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1.  Prevalence of fractures among the Thalassemia syndromes in North America 
Bone  2005;38(4):571-575.
Historically, fractures are cited as a frequent problem in patients with Thalassemia prior to optimization of transfusion and chelation regimens. The aim of this study was to determine the prevalence of fractures in a contemporary sample of North American patients with Thalassemia. The North American Thalassemia Clinical Research Network (TCRN) database registry was used to gather historical data on 702 patients with common alpha and beta-Thalassemia diagnoses including Thalassemia Major (TM), Intermedia (TI), E/Beta, homozygous alpha Thalassemia (AT), Hemoglobin H disease (HbH) and HbH with Constant Spring (HbH/CS), who consented to a medical record chart review. Bone mineral density (BMD) measurements by DXA were available for review in a subgroup of patients (n = 312).
The overall fracture prevalence among all Thalassemia syndromes was 12.1%, equally distributed between females (11.5%) and males (12.7%). Fractures occurred more frequently in TM (16.6%) and TI (12.2%) compared to E/Beta (7.4%) and alpha (2.3%). Prevalence increased with age (2.5% ages 0–10 years, 7.4% ages 11–19 years, 23.2% ages >20 years) and with use of sex hormone replacement therapy (SHRT) (P < 0.01). On average, BMD Z and T scores were 0.85 SD lower among patients with a history of fractures (mean Z/T score −2.78 vs. −1.93, 95% CI for the difference −0.49 to −1.22 SD, P = 0.02). Presence of other endocrinopathies (i.e. hypothyroidism, hypoparathyroidism and diabetes mellitus), anthropometric parameters, heart disease or hepatitis C were not significant independent predictors of fractures.
These data indicate that fractures remain a frequent complication among the aging patients with both TM and TI beta-Thalassemia. However, the fracture prevalence has improved compared to published reports from the 1960s to 1970s. In addition, children with Thalassemia appear to have low fracture rates compared to the general population.
PMCID: PMC4594870  PMID: 16298178
Thalassemia; Fractures; Low bone mass
2.  Endocrine and metabolic disorders in β-thalassemiamajor patients  
Background: Thalassemia is the most common hereditary anemia and beta thalassemia major is its most severe form. Endocrine abnormalities in thalassemia major are common disturbing complications that need prompt management. The purpose of this study was to determine the endocrine disorders and bone mineral density in patients with major  -thalassemia in .
Methods: In this cross- sectional study, 77 patients with - thalassemia major (15-36 years old) were enrolled. Physical examination, laboratory tests, bone radiography and bone density measurements were performed. Then, the data were analyzed.
Results: Forty patients were males. The mean age was 21.26±4.53 years old. The mean BMI was 20.15±2.79 kg/m2. Impaired puberty, short stature, hypothyroidism, diabetes mellitus, IGT, hypoparathyroidism, vitamin D deficiency and vitamin D insufficiency were observed in 46.8%, 33.8%, 18.2%, 16.9%, 13%, 7.8%, 45.5% and 24.7% of patients, respectively. Nearly 80% of patients had low bone mineral density. Bone mineral density was significantly associated with hypogonadism (p=0.001), short stature (p=0.026), hypoparathyroidism (p=0.031), hypothyroidism (p=0.048), diabetes mellitus (p=0.002) and vitamin D deficiency (p<0.001).
Conclusion: Impaired puberty and short stature were the most common endocrine complications in our population. Low bone density (osteopenia, osteoporosis) is significantly different in β-thalassemic patients with and without endocrine complications.
PMCID: PMC3755848  PMID: 24009916
Major β- thalassemia; Bone mineral density; Osteopenia; Osteoporosis; Puberty
3.  Bone Disease in Thalassemia: A Frequent and Still Unresolved Problem 
Adults with β thalassemia major frequently have low BMD, fractures, and bone pain. The purpose of this study was to determine the prevalence of low BMD, fractures, and bone pain in all thalassemia syndromes in childhood, adolescence, and adulthood, associations of BMD with fractures and bone pain, and etiology of bone disease in thalassemia. Patients of all thalassemia syndromes in the Thalassemia Clinical Research Network, ≥6 yr of age, with no preexisting medical condition affecting bone mass or requiring steroids, participated. We measured spine and femur BMD and whole body BMC by DXA and assessed vertebral abnormalities by morphometric X-ray absorptiometry (MXA). Medical history by interview and review of medical records, physical examinations, and blood and urine collections were performed. Three hundred sixty-one subjects, 49% male, with a mean age of 23.2 yr (range, 6.1–75 yr), were studied. Spine and femur BMD Z-scores < −2 occurred in 46% and 25% of participants, respectively. Greater age, lower weight, hypogonadism, and increased bone turnover were strong independent predictors of low bone mass regardless of thalassemia syndrome. Peak bone mass was suboptimal. Thirty-six percent of patients had a history of fractures, and 34% reported bone pain. BMD was negatively associated with fractures but not with bone pain. Nine percent of participants had uniformly decreased height of several vertebrae by MXA, which was associated with the use of iron chelator deferoxamine before 6 yr of age. In patients with thalassemia, low BMD and fractures occur frequently and independently of the particular syndrome. Peak bone mass is suboptimal. Low BMD is associated with hypogonadism, increased bone turnover, and an increased risk for fractures.
PMCID: PMC3276604  PMID: 18505376
DXA; BMD; fractures; vertebral morphometry; thalassemia
4.  Endocrine Function in Thalassemia Intermedia 
Thalassemias are the most common genetic disorder on a wordwide basis. β-thalassemia is a severe hemolytic anemia which results from genetic defects in the synthesis of the hemoglobin β-chain. Various endocrine abnormalities have been described in patients with thalassemia major. Endocrine disturbances have also been observed in patients with thalassemia intermedia (TI). In this study endocrine functions were investigated in TI and here the frequency of different abnormalities is reported. Ninety-three patients (40 males, 53 females) with thalassemia intermedia, 11-40 years old (mean 19.4 yr) were studied. Medical history was obtained and a complete physical examination was done for each patient. The age, sex, weight, height and serum ferritin levels were recorded using a questionnaire. Growth Hormone (GH) secretion, thyrotropin (TSH), T4, parathyroid hormone (PTH) and cortisole levels were determined in these patients. The mean ± Standard Deviation (SD) serum ferritin level was 452.4 ± 312.60 μg/L. Mean ± SD hemoglobin concentration was 9 ± 1 g/dl. Short stature was present in 46% of patients. Growth hormone deficiency was one of the most frequent (31%) endocrine abnormalities in these patients. Primary hypothyroidism was observed in 21.5% of patients. Hypoparathyroidism was found in one patient (1%). Failure of puberty was present in 2% of patients, secondary ammenorrhea was observed in 6.4% of patients and diabetes mellitus (DM) in 2% of patients. Conclusion: Growth retardation and GH deficiency should be considered as common finding in TI. Therefore endocrine evaluation of these patients is suggested to prevent complications and to improve the overall quality of life.
PMCID: PMC3614602  PMID: 23674986
thalassemia intermedia; endocrinopathies
5.  Bone density in transfusion dependent thalassemia patients in Urmia, Iran 
Patients with thalassemia major and intermedia are susceptible to osteopenia and osteoporosis. The mechanism of osteoporosis in these patients is multifactorial. Transfusion related iron overload in endocrine organs leads to impaired growth hormone secretion, diabetes mellitus, hypothyroidism, hypoparathyroidism, lack of sex steroids and vitamin D deficiency that contribute to impairment in achieving an adequate bone mass .The aim of this study was assessment of frequency of bone loss in patients with thalassemia major and intermedia in Urmia City of West Azerbaijan, Iran
Materials and Methods
In this cross sectional descriptive study,10 patients (lower than 18 y/o)with transfusion dependent thalassemia attending to Motahari and Emam Khomeini hospitals in Urmia city of Iran were enrolled and scanned for Bone Mineral Density (BMD) starting at around 10 years old.
Tenatients (6 male and 4 female) with transfusion dependent thalassemia (β-thalassemia major and intermedia) aged 13to 17 years in Urmia city of Iran were enrolled. Mean age of patients was 15.1±.37year old. Among them, 8 patients (80%)had low BMD and2 of them (20%) had normal BMD in lumbar spine. Only 30% of patients had low BMD in the neck of femur.
We should perform annual BMD in patients with thalassemia major and intermedia and hemoglobin H disease in age of higher than 8 year old and treat low BMD with administration of bisphosphonate, calcium and vitamin D supplements. Medical consultation with a rheumatologist and /or an endocrinologist should be performed in these patients. Changing lifestyle with mild daily exercise, adequate calcium containing foods, avoiding heavy activities, stop smoking, iron chelation therapy in adequate dosage, early diagnosis and treatment of endocrine insufficiency and regular blood transfusions can help to achieve an optimal bone density in these patients.
PMCID: PMC4083203  PMID: 25002928
Thalassemia; Bone mineral density; Osteoporosis; Bone Loss
6.  Growth Parameters and Vitamin D status in Children with Thalassemia Major in Upper Egypt 
The aim of this study is to assess the growth parameters, vitamin D, calcium, and phosphorous status in children with thalassemia major receiving packed red cells transfusion with chelation therapy.
Patients and Methods
In a case control study, 100 patients with beta thalassemia major (aged from 4 to 15 years) were compared with 100 sex- and age-matched children serves as a control group. Anthropometric measurement, Serum level of calcium, phosphorus and vitamin D (25 hydroxycholecalciferol) were estimated for all patients & controls.
49% of our patients had short stature. 47% were underweight. BMI of 43 (43%) patients were low. The mean total serum calcium (6.6±1.2 mg/dl) and 25-hydroxycholecalciferol (25-OH Vit D) (10.4±4.6 mcg/dl) levels were significantly lower in our patients than in controls (10.2±1.06 mg/dl and 40.2±12.3 mcg/dl, respectively); each P< 0.001.
Children with beta thalassemia major have delayed growth and metabolic abnormalities that signify the importance of therapeutic interventions. The presence of these abnormalities may be due to iron overload and poor nutritional support.
PMCID: PMC3915427  PMID: 24505537
Thalassemia major; Calcium; Growth; Vitamin D
7.  Cortisol response to low dose versus standard dose (back-to-back) adrenocorticotrophic stimulation tests in children and young adults with thalassemia major 
Thalassemia major patients with repeated blood transfusion have high prevalence of endocrinopathies due to iron overload.
Materials and Methods:
We examined the adrenocortical function in 23 thalassemic patients (10 children and 13 young adults) aged 8-26 years. Serum cortisol and dehydroepiandrosterone sulfate (DHEA-S) concentrations were determined in each subject before blood transfusion both in basal condition and after low dose (LD) (1 μg), followed by standard dose (SD) (250 μg, respectively) with synthetic corticotrophin beta 1-24 ACTH (Synacthen, Ciba). Normal controls were a group of 13 age- and sex-matched normal subjects.
Using a peak total cortisol cutoff level of 550 nmol/L and increments of 200 μg above basal cortisol, adrenal insufficiency (AI) was demonstrated in 8 patients (34.7%) after the LD ACTH and in 2 patients (8.7%) after SD cosyntropin (ACTH) test, but none of the controls. Using a peak total cortisol cutoff level of 420 nmol/L and increments of 200 μg above basal cortisol, AI was demonstrated in 5 patients (21.7%) after the LD ACTH and in 2 patients after SD ACTH test (8.7%), but none of controls. All patients with biochemical AI were asymptomatic with normal serum sodium and potassium concentrations and had no history suggestive of adrenal pathology. The peak cortisol concentrations in thalassemic patients with impaired adrenal function both after 1 μg and 250 μg cosyntropin (294 ± 51 nmol/L and 307 ± 58.6) were significantly lower than those with patients with normal (454 ± 79.7 nmol/L and 546.1 ± 92.2 nmol/L, respectively) and controls (460.2 ± 133.4 nmol/L and 554.3 ± 165.8 nmol/L, respectively). Adolescents and young adults, but not children with thalassaemia, had significantly lower peak cortisol concentration after SD ACTH versus controls. Peak cortisol response to LD ACTH was correlated significantly with peak cortisol response to SD in all patients (r = 0.83, P < 0.0001). In adolescents and young adults with thalassemia, DHEA-S levels before and after LD ACTH stimulation were significantly lower and the cortisol/DHEA-S ratios were significantly higher than the controls.
The use of LD ACTH test diagnoses more adrenal abnormalities versus SD ACTH in thalassemic patients. The relatively high prevalence of AI in thalassemic adolescents and young adults necessitates that these patients have to be investigated for AI before major surgery and those with impaired cortisol secretion should receive stress doses of corticosteroids during the stressful event.
PMCID: PMC3872683  PMID: 24381882
Cortisol; dehydroepiandrosterone sulfate; low dose adrenocorticotropic hormone test; standard dose adrenocorticotropic hormone test; thalassemia
8.  Linear growth and endocrine function in children with ataxia telangiectasia 
Ataxia telangiectasia (AT) is a rare, genetic, primary immune deficiency disease characterized by immunodeficiency and neurological manifestations, with an increased tendency to infection, malignancy, and autoimmune diseases. Both growth delay and endocrine abnormalities are occasionally reported in these patients.
Patients and Methods:
We studied growth parameters height (Ht), weight, body mass index (BMI) and calculated the Ht standard deviation scores (HtSDS) of 13 patients (age 7.7 ± 3.5 years-age range: 3–14.5 years) with AT in relation to their mid-parental Ht SDS (MPHtSDS). We measured their serum calcium (Ca), phosphorus (PO4), alkaline phosphatase, alanine transferase (ALT), serum ferritin, creatinine and albumin concentrations. Endocrine investigations included the assessment of serum free thyroxine (FT4), thyrotropin (TSH), insulin-like growth factor-I (IGF-I) and morning cortisol. Complete blood count and serum immunoglobulins (IgG, IgM and IgA antibodies) were also measured. Growth data were correlated to hormonal and immune data.
About 31% of patients with AT had short stature (HtSDS <−2). However, their MPHtSDS denoted that their short stature was familial because four out of 13 had MPHtSDS <−2. They had low BMI, and two of them had low serum albumin and IGF-I, denoting malnutrition or disturbed growth hormone secretion. Elevated serum ALT and ferritin in some patients suggest immune-related inflammation in the liver. 30% of patients had high TSH, two of them had low FT4 diagnosing overt (15%) and sub-clinical (15%) hypothyroidism. Anti-thyroid peroxidase antibodies were high in two out of 13 patients denoting immune-related thyroid aggression. Eight out of 13 patients had Vitamin D deficiency (<20 ng/ml) however, their serum Ca and PO4 levels were in the normal range. One adolescent girl (14.5 years) had hyper-gonadotropic hypogonadism (low estradiol and high follicle stimulating hormone). All patients had normal 8 AM cortisol and renal function. None of the growth parameters were correlated with the IgG, IgM or IgA levels.
In summary:
Patients with AT had a high prevalence of growth retardation and endocrine dysfunction in the form of low IGF-I, overt and subclinical hypothyroidism and hypogonadism. Physicians should be aware of these possible endocrinopathies for an early diagnosis and proper treatment.
PMCID: PMC4266876  PMID: 25538885
Ataxia telangiectasia; endocrine functions; growth
9.  Increased Microerythrocyte Count in Homozygous α+-Thalassaemia Contributes to Protection against Severe Malarial Anaemia 
PLoS Medicine  2008;5(3):e56.
The heritable haemoglobinopathy α+-thalassaemia is caused by the reduced synthesis of α-globin chains that form part of normal adult haemoglobin (Hb). Individuals homozygous for α+-thalassaemia have microcytosis and an increased erythrocyte count. α+-Thalassaemia homozygosity confers considerable protection against severe malaria, including severe malarial anaemia (SMA) (Hb concentration < 50 g/l), but does not influence parasite count. We tested the hypothesis that the erythrocyte indices associated with α+-thalassaemia homozygosity provide a haematological benefit during acute malaria.
Methods and Findings
Data from children living on the north coast of Papua New Guinea who had participated in a case-control study of the protection afforded by α+-thalassaemia against severe malaria were reanalysed to assess the genotype-specific reduction in erythrocyte count and Hb levels associated with acute malarial disease. We observed a reduction in median erythrocyte count of ∼1.5 × 1012/l in all children with acute falciparum malaria relative to values in community children (p < 0.001). We developed a simple mathematical model of the linear relationship between Hb concentration and erythrocyte count. This model predicted that children homozygous for α+-thalassaemia lose less Hb than children of normal genotype for a reduction in erythrocyte count of >1.1 × 1012/l as a result of the reduced mean cell Hb in homozygous α+-thalassaemia. In addition, children homozygous for α+-thalassaemia require a 10% greater reduction in erythrocyte count than children of normal genotype (p = 0.02) for Hb concentration to fall to 50 g/l, the cutoff for SMA. We estimated that the haematological profile in children homozygous for α+-thalassaemia reduces the risk of SMA during acute malaria compared to children of normal genotype (relative risk 0.52; 95% confidence interval [CI] 0.24–1.12, p = 0.09).
The increased erythrocyte count and microcytosis in children homozygous for α+-thalassaemia may contribute substantially to their protection against SMA. A lower concentration of Hb per erythrocyte and a larger population of erythrocytes may be a biologically advantageous strategy against the significant reduction in erythrocyte count that occurs during acute infection with the malaria parasite Plasmodium falciparum. This haematological profile may reduce the risk of anaemia by other Plasmodium species, as well as other causes of anaemia. Other host polymorphisms that induce an increased erythrocyte count and microcytosis may confer a similar advantage.
Karen Day and colleagues show that increased microcytic erythrocyte count may contribute substantially to the protection of α+-thalassaemia-homozygous children against severe malaria anaemia.
Editors' Summary
Mutations (changes in the DNA that encodes proteins) continually arise within human populations. Harmful mutations that affect an individual's ability to reproduce usually disappear, but most other mutations persist at a low frequency. Some mutations, however, protect their human carriers against specific disease-causing organisms, and consequently occur at high frequencies in human populations that live in places where these organisms are common. For example, the inherited blood disorder α+-thalassemia, which is common in Africa and Southeast Asia, provides protection against malaria, a parasitic disease that occurs in tropical and subtropical parts of the world. α+-Thalassemia is caused by the loss of one or more of the genes that encode the α chains of hemoglobin, the red blood cell (erythrocyte) protein that carries oxygen around the body. These α chains are normally encoded by four genes, two on each Chromosome 16 (all chromosomes come in pairs). People with heterozygous α+-thalassemia lack one copy of the α chain gene and have a –α/αα genotype (genetic makeup). People with homozygous α+-thalassemia lack one copy of the gene on each chromosome (they have a –α/–α genotype) and have mild “microcytic anemia,” a condition characterized by increased numbers of abnormally small erythrocytes (microcytosis) that contain reduced amounts of hemoglobin.
Why Was This Study Done?
Paradoxically, although homozygous α+-thalassemia causes mild anemia, it provides protection against severe malarial anemia, a potentially fatal complication of malaria. Malaria parasites cause anemia because they multiply inside erythrocytes and rupture them. Scientists originally thought that α+-thalassemia protects against malaria by interfering with the parasite's ability to infect erythrocytes, but the evidence collected so far does not support this hypothesis. In this study, therefore, the researchers have investigated whether the microcytosis and increased erythrocyte count associated with α+-thalassemia might be responsible for the protection that this blood disorder provides against severe malarial anemia. Specifically, they asked whether this hematological (blood) profile protects against severe malarial anemia because people with the –α/–α genotype lose less hemoglobin for a given degree of malaria-induced erythrocyte loss than do those with the normal genotype.
What Did the Researchers Do and Find?
A study done in the mid 1990s in children living on the north coast of Papua New Guinea (where 68% of the population has α+-thalassemia) showed that homozygous α+-thalassemia protects against severe malaria. To investigate why, the researchers re-analyzed the genotype-specific reduction in erythrocyte counts and hemoglobin levels associated with acute malarial disease in these children and developed a simple mathematical model to predict hemoglobin levels after malaria infection. They found that when malarial infection reduced the number of erythrocytes per liter of blood by more than 1.1 × 1012 (the average measured loss of erythrocytes in this population because of malaria was 1.5 × 1012 per liter), children with homozygous α+-thalassemia lost less hemoglobin than did those with the normal genotype. Furthermore, children with homozygous α+-thalassemia needed a 10% greater reduction in their red blood cell count than children with the normal genotype for their hemoglobin levels to fall below the value that defines severe malarial anemia.
What Do These Findings Mean?
These findings suggest that the increased number of abnormally small erythrocytes associated with homozygous α+-thalassemia might be responsible for the protection against severe malarial anemia that this blood disorder provides, because more erythrocytes have to be destroyed by the parasite to reduce hemoglobin concentrations to a dangerous level than in people with the normal genotype. In other words, a lower concentration of hemoglobin per erythrocyte coupled with a larger population of erythrocytes might be advantageous in the face of the large reduction in erythrocyte numbers caused by infection with malaria parasites. The researchers note that their study population was infected with only one type of malaria parasite (Plasmodium falciparum), but speculate that the hematological profile associated with α+-thalassemia might also prevent other Plasmodium species causing anemia. Futhermore, they suggest, other mutations that increase the erythrocyte count and cause microcytosis might protect against severe malaria anemia in a similar fashion.
Additional Information.
Please access these Web sites via the online version of this summary at
The MedlinePlus encyclopedia contains pages on thalassemia and on malaria (in English and Spanish)
Detailed information is available on thalassemia (including useful links to other resources) from the US National Heart Lung and Blood Institute, from the US National Human Genome Research Institute, from the Cooley's Anemia Foundation, and from MedlinePlus
The US Centers for Disease Control and Prevention provide information on malaria (in English and Spanish)
Information is also available from the World Health Organization on malaria (in English, Spanish, French, Russian, Arabic, and Chinese)
PMCID: PMC2267813  PMID: 18351796
10.  Thyroid function in major thalassemia patients: Is it related to height and chelation therapy?  
Background: One of the most common endocrine problems in major beta-thalassemia is hypothyroidism (HT). The aim of this study was to evaluate thyroid function status in major β-thalassemia patients older than 10 years old.
Methods: This cross sectional study was carried out on thalassemia major patients registered on Thalassemia Center of Amirkola Children Hospital in Babol. A questionnaire was filled out by the patients to evaluate the demographic information, quality of their last transfusions and chelation therapy. Growth parameters were evaluated. We assessed serum T4, TSH, T3RU and FTI in all patients and those with hypothyroidism, anti-thyroglobulin and anti-thyroid proxidase antibodies were checked
Results: One hundred-thirty patients (56 males and 74 females) were enrolled in this study. The mean age was 20.95±7.8 years. Short stature was seen in 41(31.3%) patients. In 53(40.8%) patients, weight was under normal range. HT was found in 19 patients (14.6%); 2 primary overt HT, 3 secondary HT and 14 subclinical HT were detected. No patient with HT had significant serum level of anti-thyroid antibodies. Correlation between HT and serum ferritin level was not significant (p=0.584) but it was significant for HT and short statures (p=0.002), also regular transfusion and chelation therapy were correlated with ferritin level.
Conclusion: High prevalence of HT among thalassemic patients signifies the importance of regular screening for evaluation of endocrine function in these patients; especially when short stature is present.
PMCID: PMC3766932  PMID: 24024013
Major thalassemia; Hypothyroidism; Serum ferritin
11.  Beta-thalassemia 
Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia). Genetic counseling is recommended and prenatal diagnosis may be offered. Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management of secondary complications of iron overload. In some circumstances, spleen removal may be required. Bone marrow transplantation remains the only definitive cure currently available. Individuals with thalassemia intermedia may require splenectomy, folic acid supplementation, treatment of extramedullary erythropoietic masses and leg ulcers, prevention and therapy of thromboembolic events. Prognosis for individuals with beta-thalassemia has improved substantially in the last 20 years following recent medical advances in transfusion, iron chelation and bone marrow transplantation therapy. However, cardiac disease remains the main cause of death in patients with iron overload.
PMCID: PMC2893117  PMID: 20492708
12.  Frequency and Risk Factors of Endocrine Complications in Turkish Children and Adolescents with Sickle Cell Anemia 
Turkish Journal of Hematology  2013;30(1):25-31.
Objective: To define frequency and risk factors of abnormalities in growth, puberty, thyroid function, and bone and carbohydrate metabolisms in children and adolescents with sickle cell disease (SCD).
Materials and Methods: Endocrine problems including short stature, puberty and thyroid disorders, and carbohydrate and bone metabolisms in 50 Turkish children and adolescents with SCD were evaluated. Relationships among sex, disease type, blood transfusions, exchange and exacerbation frequency, ferritin levels, and endocrine pathologies were investigated.
Results: The mean age of the study group was 13.1±2.9 years. Weights and heights of 12 participants (24%) were below -2 standard deviations and 4 participants (8%) had malnutrition. Mean difference (±standard deviation) between bone and chronological age of patients was -1.73±1.86 years. Fifty percent of patients had at least one endocrine abnormality other than vitamin D deficiency and insufficiency. Hypergonadotropic hypogonadism in 3 patients (6%), hypogonadotropic hypogonadism in 1 female patient (2%), and small testicular volume in respect to age in 3 male patients (8.5%) were seen. Growth hormone deficiency was detected in 1 (2%) female patient, and hypothyroidism was diagnosed in 3 patients (6%; 1 central case, 2 cases of primary hypothyroidism). At vertebral level, 5 patients (11.1%) had osteopenia and 1 patient (2.2%) had osteoporosis, while 5 patients (11.1%) had osteopenia at femur neck level. The most common endocrine abnormality was vitamin D deficiency. 25-Hydroxyvitamin D was deficient in 63.2% and insufficient in 18.4% of patients. Sex, disease type, blood transfusion frequency, exacerbation frequency, and ferritin levels were not related to endocrine pathologies. As the age was increased, standard deviation scores of femur neck bone mineral density was decreased (r =-0.56; p<0.05). Vitamin D was lower in patients whose weights and/or heights were below -2 standard deviations from the mean (p<0.05).
Conclusion: Endocrine organ dysfunctions are commonly detected in children and adolescents with SCD, and vitamin D deficiency is the most commonly encountered endocrine disorder. Regular follow- ups of patients for endocrine complications, starting from early ages of patients, and initiation of appropriate treatments will elongate expectancy and quality of life.
Conflict of interest:None declared.
PMCID: PMC3781645  PMID: 24385749
Sickle cell disease; Nutritional status; Endocrine system diseases; children
13.  AB157. Evaluation of thalassemia screening program by using red blood count in pregnant women at Hung Vuong Hospital, Ho Chi Minh City, Vietnam 
Annals of Translational Medicine  2015;3(Suppl 2):AB157.
To evaluate thalassemia carrier screening program using red blood count indices (RBC) at Hung Vuong hospital, Ho Chi Minh City, Viet Nam, from June 2010 to March 2013.
All pregnant women visiting Hung Vuong hospital were screened thalassemia carrier by using RBC. Serum ferritin and hemoglobin electrophoresis were performed among microcytic hypochromic anemia women [mean cellular volume (MCV) <80 fL or mean cellular hemoglobin (MCH) <28 pg]. Their partners were also asked to be screened by these tests. The anemia couples were consulted to identify thalassemia mutation. The couples who were at high risk of having thalassemia major fetus were then advised to undergo invasive procedure such as amniocentesis or cordocentesis. The couples having confirmed thalassemia major fetus were offered pregnancy termination.
Among 2,982 microcytic hypochromic anemia pregnant women, 21% of them (633/2,982) have their partners detected to have the same condition. Among those anemia couples, 51% (324/633) were both alpha thalassemia carriers, 10% (62/633) were both beta thalassemia carriers and 39% (247/633) were two different types of thalassemia carriers. Among alpha thalassemia mutations, --SEA mutation has the highest proportion (67%, 337/502). The mean of MCV and MCH of --SEA mutation carriers were 67.9±4.7 and 21.9±1.5 respectively. Among 1,249 beta thalassemia cases diagnosed through RBC and hemoglobin electrophoresis, 54% (678/1,249) had HbE peak with 75.7±5.1 MCV and 25.2±1.9 MCH and the other 46% (571/1,249) had 67.7±6.7 MCV and 22±2.3 MCH. Among the couples who were both microcytic hypochromic anemia, only 33% (209/633) of them agreed to undergo amniocentesis or cordocentesis to identify the affected fetuses. We found 40 hemoglobin Bart hydrops fetalis syndrome cases and 4β thalassemia major cases. All the thalassemia major fetuses were terminated, except 1β thalassemia major fetus carrying Cd 26 (HbE disease) and Cd 41/42 mutations.
Thalassemia is a common inherited condition in Viet Nam. The number of α thalassemia carriers is twice as many as beta thalassemia carriers. --SEA and CD 26 (HbE disease) mutations are the most common mutations of α thalassemia and beta thalassemia, respectively. In order to reduce the number of major thalassemia fetuses, thalassemia screening strategy by RBC in preconceptional couples or in first-visit pregnant women is effective and applicable in Viet Nam.
PMCID: PMC4563475
Thalassemia; red blood count indices (RBC); mean cellular volume (MCV); mean cellular hemoglobin (MCH)
14.  Prevalence of Hypoparathyroidism (HPT) in Beta Thalassemia Major 
Introduction: The aim of this study was to assess the parathyroid functions and bone mineral density (BMD) in patients with beta thalassemia and to correlate them with serum ferritin, calcium, phosphorus and alkaline phosphatase levels.
Materials and Methods: This is a case control study which was done on 55 subjects (40 cases and 15 controls) in the age group of 2-18 years. The cases included were with confirmed diagnosis of beta thalassemia major, more than ten blood transfusions and serum ferritin levels >2000 μg/L irrespective of chelation therapy.
Results: Significant Hypoparathyroidism (HPT) observed along with low BMD levels in beta thalassemia patients (p < 0.01).
A significant decrease in serum calcium level was seen in cases when compared to controls, where as the levels of both serum phosphorus and alkaline phosphatase levels increased in cases when compared to controls.
Conclusion: BMD and PTH levels are very useful tools for diagnosing HPT. As a routine, in beta thalassemia major, screening for vitamin D deficiency and hypocalcemia should be done in second decade of life and as a preventive measure they should be supplemented with calcium and vitamin D to prevent hypocalcemic tetany, to facilitate bone growth and to prevent fractures.
PMCID: PMC3972574  PMID: 24701472
Bone mineral density (BMD); Parathyroid hormone (PTH); Dual energy X-ray absorptiometry (DEXA)
15.  Thalassaemia and Aberrations of Growth and Puberty 
Endocrine dysfunction in Thalassaemia major (TM) is a common and disturbing complication, which requires prompt recognition and treatment. The contribution of the underlying molecular defect in TM to the development of endocrinopathies is significant because the patients with the more severe genetic defects have a greater rate of iron loading through higher red cell consumption. TM patients frequently present delay of growth and puberty with reduction of final height. The pathogenesis of growth failure is multifactorial and is mainly due to chronic anemia and hypoxia, chronic liver disease, zinc and folic acid deficiency, iron overload, intensive use of chelating agents, emotional factors, and endocrinopathies (hypogonadism, delayed puberty, hypothyroidism) and GH-IGF-1 axis dysregulation. Although appropriate iron chelation therapy can improve growth and development, TM children and adolescents treated intensively with desferrioxamine remain short as well, showing body disproportion between the upper and lower body segment. Body disproportion is independent of pubertal or prepubertal period of greater height gain. Treatment with recombinant GH (rhGH) is recommended when GH deficiency is established, and even so, the therapeutic response is often non satisfactory. Growth acceleration is mostly promoted with sex steroids in children with associated pubertal delay. Sexual complications in TM, which include Delayed Puberty, Arrested Puberty and Hypogonadism, present the commonest endocrine complication. Iron deposition on gonadotroph cells of the pituitary leads to disruption of gonadotrophin production which is proven by the poor response of FSH and LH to GnRH stimulation. In the majority of patients gonadal function is normal as most women with Amenorrhea are capable of achieving pregnancy with hormonal treatment and similarly men with azoospermia become fathers. Secondary Hypogonadism appears later in life, and is manifested in women as Secondary Amenorrhea and in men as decline in sexual drive and azzoospermia. The damage to the hypothalamus and pituitary is progressive, even when intensive chelating therapy is given and the appearance of Hypogonadism in both sexes is often unavoidable. Close follow up and proper management is crucial for every patient with TM. Early recognition of growth disturbance and prevention of hypogonadism by early and judicious chelation therapy is mandatory for the improvement of their quality of life. Patients with TM can now live a better life due to modern advances in their medical care and our better understanding in the pathogenesis, manifestation and prevention of endocrine complications.
PMCID: PMC3033154  PMID: 21415985
16.  Metabolic and endocrinologic complications in beta-thalassemia major: a multicenter study in Tehran 
The combination of transfusion and chelation therapy has dramatically extended the life expectancy of thalassemic patients. The main objective of this study is to determine the prevalence of prominent thalassemia complications.
Two hundred twenty patients entered the study. Physicians collected demographic and anthropometric data and the history of therapies as well as menstrual histories. Patients have been examined to determine their pubertal status. Serum levels of 25(OH) D, calcium, phosphate, iPTH were measured. Thyroid function was assessed by T3, T4 and TSH. Zinc and copper in serum were determined by flame atomic absorption spectrophotometry. Bone mineral density (BMD) measurements at lumbar and femoral regions have been done using dual x-ray absorptiometry. The dietary calcium, zinc and copper intakes were estimated by food-frequency questionnaires.
Short stature was seen in 39.3% of our patients. Hypogonadism was seen in 22.9% of boys and 12.2% of girls. Hypoparathyroidism and primary hypothyroidism was present in 7.6% and 7.7% of the patients. About 13 % of patients had more than one endocrine complication with mean serum ferritin of 1678 ± 955 micrograms/lit. Prevalence of lumbar osteoporosis and osteopenia were 50.7% and 39.4%. Femoral osteoporosis and osteopenia were present in 10.8% and 36.9% of the patients. Lumbar BMD abnormalities were associated with duration of chelation therapy. Low serum zinc and copper was observed in 79.6% and 68% of the study population respectively. Serum zinc showed significant association with lumbar but not femoral BMD. In 37.2% of patients serum levels of 25(OH) D below 23 nmol/l were detected.
High prevalence of complications among our thalassemics signifies the importance of more detailed studies along with therapeutic interventions.
PMCID: PMC194672  PMID: 12914670
17.  Prevalence of Endocrinopathies in Patients with Beta-Thalassaemia Major - A Cross-Sectional Study in Oman 
Oman Medical Journal  2008;23(4):257-262.
Beta-thalassaemia major is a common medical problem worldwide. There is little data dealing with the nature and prevalence of different endocrine disorders in this disease in the Sultanate of Oman.
To establish the prevalence and times of occurrence of endocrine disorders in patients with beta-thalassaemia major.
This cross-sectional study was conducted during Jan-Jul 2008 and dealt with 30 Omani patients with transfusion-dependent homozygous beta-thalassaemia major who were consulting Thalassaemia Clinic, Royal Hospital. They included 15 males and 15 females, aged 16 to 32 years with median of 21 years and mean ± SD of 21.23 ± 3.42 years. The medical records of these patients were reviewed and their endocrine functions were assessed. This assessment included pituitary and gonadal function, thyroid function, bone profile (including Parathyroid Hormone), morning cortisol and fasting glucose. These profiles were reviewed to exclude hypogonadism, hypothyroidism, hypoparathyroidism, hypoadrenalism or diabetes mellitus.
Hypogonadism was reported in 22 (73.3%) patients (13 female, 9 male). Low levels of Follicle-Stimulating Hormone (FSH) and low Luteinizing Hormone (LH) with low estradiol (in females) or testosterone (in males) was noted in 15 (50.0%) patients (7 female, 8 male). Normal (but inappropriately low) levels of FSH and LH with low estradiol (in females) or testosterone (in males) was noted in 7 (23.3%) patients (6 female, 1 male). Primary hypothyroidism was present in only 1 (3.3%) patient (female) who Hypoparathyroidism was found in 3 (10.0%) patients (2 female, 1 male). Diabetes mellitus with high fasting glucose was noted in 8 (26.7%) patients (2 female, 6 male). Morning cortisol levels for all patients were within the reference range with no suspicion of hypoadrenal cortical function. Eight (26.7%) patients had no endocrine disorder, 12 (40.0%) patients had one disorder, 8 (26.7%) patients had 2 disorders, and 2 (6.7%) patients had 3 endocrine disorders. There was no significant difference (p>0.050) in mean serum ferritin in thalassaemics with or without endocrinopathy, regardless of the number of endocrinopathy.
There is high prevalence of endocrine disorders among Omani beta-thalassaemic adult patients. This signifies the importance of awareness for their development and monitoring for early detection and replacement therapy. No relationship between serum ferritin and development of endocrinopathy was noted.
PMCID: PMC3273922  PMID: 22334838
Beta-thalassaemia; Endocrinopathy
18.  Hypoparathyroidism in Adult Patients with Beta-Thalassemia Major 
To evaluate the prevalence of hypoparathyroidism in adult transfusion-dependent patients with beta-thalassemia major in a teaching referral hospital in Oman.
All adult (>13 years) patients with beta-thalassemia major seen at Royal Hospital in Oman between 2004 and 2006 were studied. Demographic, pharmaceutical, clinical and biochemical data were collected for all the subjects. Analyses were performed using both descriptive and univariate statistics.
A total of 31 patients were included into the study with an overall mean age of 19±3 years ranging from 14 to 30 years. Just over half of the subjects were males (n=16; 52%). All the patients were on hypertransfusion and combined chelation therapy with desferrioxamine 40–60 mg/kg 5 days per week and deferiprone 75 mg/kg/day. Three of the patients had low levels of parathyroid hormone (<1.6 pmol/l). A further three patients had normal levels of parathyroid hormone (1.6 – 9.3 pmol/l) in the presence of low serum calcium levels (<2.1 mmol/l). These patients (with normal hypoparathyroid hormone levels, but lower calcium levels) were also defined to have hypoparathyroidism bringing the total prevalence of hypoparathyroidism in this cohort of adult patients with Beta-thalassemia major to 19% (6 out of 31). The patients with hypoparathyroidism had statistically significantly lower levels of parathyroid hormone (2.7 versus 5.3 pmol/l; p=0.031) and serum calcium (1.7 versus 2.3 pmol/l; p=0.004) compared to those without hypoparathyroidism.
The prevalence of hypoparathyroidism in adult beta-thalassemia major patients at this referral center was significantly higher (19%) than those reported elsewhere (2.5 and 10.7%).
PMCID: PMC3074875  PMID: 21748106
Hypoparathyroidism; Thalassemia major; Beta-thalassemia; Oman
19.  Glucose homeostasis in Egyptian children and adolescents with β-Thalassemia major: Relationship to oxidative stress 
Oxidative stress in children with β-thalassemia may contribute to shortened life span of erythrocytes and endocrinal abnormalities.
This study was aimed to evaluate glucose homeostasis in Egyptian children and adolescents with β-thalassemia major and its relation to oxidative stress.
Materials and Methods:
Sixty children and adolescents with β-thalassemia major were studied in comparison to 30 healthy age and sex-matched subjects. Detailed medical history, thorough clinical examination, and laboratory assessment of oral glucose tolerance test (OGTT), serum ferritin, alanine transferase (ALT), fasting insulin levels, plasma malondialdehyde (MDA) as oxidant marker and serum total antioxidants capacity (TAC) were performed. Patients were divided into two groups according to the presence of abnormal OGTT.
The prevalence of diabetes was 5% (3 of 60) and impaired glucose tolerance test (IGT) was 8% (5 of 60). Fasting blood glucose, 2-hour post-load plasma glucose, serum ferritin, ALT, fasting insulin level, homeostatic model assessment for insulin resistance index (HOMA-IR) and MDA levels were significantly elevated while TAC level was significantly decreased in thalassemic patients compared with healthy controls (P < 0.001 for each). The difference was more evident in patients with abnormal OGTT than those with normal oral glucose tolerance (P < 0.001 for each). We also observed that thalassemic patients not receiving or on irregular chelation therapy had significantly higher fasting, 2-h post-load plasma glucose, serum ferritin, ALT, fasting insulin, HOMA-IR, oxidative stress markers OSI and MDA levels and significantly lower TAC compared with either those on regular chelation or controls. HOMA-IR was positively correlated with age, serum ferritin, ALT, MDA, and negatively correlated with TAC.
The development of abnormal glucose tolerance in Egyptian children and adolescents with β--thalassemia is associated with alteration in oxidant-antioxidant status and increase in insulin resistance.
1- Glucose tolerance tests, HOMA-IR, and MDA should be an integral part of the long-term follow-up of children and adolescents with β-thalassemia major. 2- Regular iron chelation and antioxidant therapy should be advised for thalassemic patients to improve glucose hemostasis.
PMCID: PMC4056131  PMID: 24944927
β-thalassemic major; diabetes mellitus; insulin resistance; oxidative stress
20.  A study of the prevalence of thalassemia and its correlation with liver function test in different age and sex group in the Chittagong district of Bangladesh 
Thalassemia is the name of a group of genetic, inherited disorders of the blood. More specifically, it is a disorder of the hemoglobin molecule inside the red blood cells. According to World health Organization (WHO), there are about 3% beta-thalassemia carrier and about 4% Hb E/beta-thalassemia carrier in Bangladesh. Our objective is to identify the prevalence of beta-thalassemia in our adolescent populations and to review risk factors that would most easily identify a subset of adolescent patients at greatest risk for the development of beta-thalassemia. We also made a study of clinical profile of 53 thalassemic patients, observing the relationship between the patients with their verity ages and sex. The cases are taken on the basis of their age (2-30 years), beta-thalassemia major, clinical jaundice with history of chronic blood transfusion. The cases excluded those who had jaundice due to viral hepatitis or hepatitis due to heavy metal poisoning (Arsenic) and those with spleenectomy. Liver function test has been evaluated in 53 patients. That were recorded with some relevant demographical data such as age, sex, blood group where median age was of 16 years and mean (±SD) age 15.4151 ± 7.90918. Among them were 21 (39.6%) female and 32 (60.4%) male. With an average 15.1% (8 in no.) beta-thalassemia, 7.5% (4 in no.) beta-thalassemia major and 77.4% (41 in no.) E-beta-thalassemia cases have been found in the study. Mean (±SD) TSB in total 53 subjects with age group 2-10 years and 21-30 years is significant. The study revealed that in thalassemic patients when the age is more, the disease progresses with their complication. Hepatic complication is mainly due to being hepatocellular in nature than that of obstructive one.
PMCID: PMC3979250  PMID: 24826050
Beta-thalassemia; Chittagong; liver function test; spleenectomy; total serum billirubin; world health organization
21.  Prevalence and Risk Factors for Complications in Patients with Nontransfusion Dependent Alpha- and Beta-Thalassemia 
Anemia  2015;2015:793025.
Background. Nontransfusion dependent thalassemia (NTDT) is a milder form of thalassemia that does not require regular transfusion. It is associated with many complications, which differ from that found in transfusion-dependent thalassemia (TDT). Currently available information is mostly derived from beta-NTDT; consequently, more data is needed to describe complications found in the alpha-NTDT form of this disease. Methods. We retrospectively reviewed the medical records of NTDT patients from January 2012 to December 2013. Complications related to thalassemia were reviewed and compared. Results. One hundred patients included 60 females with a median age of 38 years. The majority (54 patients) had alpha-thalassemia. Overall, 83 patients had one or more complications. The three most common complications were cholelithiasis (35%), abnormal liver function (29%), and extramedullary hematopoiesis (EMH) (25%). EMH, cardiomyopathy, cholelithiasis, and pulmonary hypertension were more commonly seen in beta-thalassemia. Osteoporosis was the only complication that was more common in alpha-thalassemia. The risk factors significantly related to EMH were beta-thalassemia type and hemoglobin < 8 g/dL. The risk factors related to osteoporosis were female gender and age > 40 years. Iron overload (ferritin > 800 ng/mL) was the only risk factor for abnormal liver function. Conclusion. The prevalence of alpha-NTDT complications was lower and different from beta-thalassemia.
PMCID: PMC4667021  PMID: 26664743
22.  AB035. Thalassemia in Vietnam 
Annals of Translational Medicine  2015;3(Suppl 2):AB035.
Thalassemia is a common inherited hemoglobin disorder in Vietnam. The alpha thalassemia, beta thalassemia, and HbE are popular in Vietnam but its variance depends on ethnics. The research for frequency of some ethnics almost in electrophoresis includes: Kinh (beta thalassemia carrier 1.49%, HbE 1.24%), Muong (beta thalassemia carrier 10.7%, HbE 11.7%), Tay (beta thalassemia carrier 11%, HbE 1%). In the recent years, we have conducted researches on thalassemia gene in the Northern and Southern areas of Vietnam. The two researches on beta thalassemia conducted at National Hospital of Pediatrics were Cd17 (33.8%), Cd41/42 (29.4%) following are HbE (19.1%), Cd 71/72 (7.3%), -28 (5.9%), IVS 2-625 (1.5%), IVS 1-5 (1.5%), IVS 1-1 (1.5%). In Vietnam, we have a thalassemia centre at the National Institute of Hematology and Blood Transfusion and several outpatient clinics at National Hospital of Pediatrics, Children No. 1 Hospital, Blood Transfusion and Hematology Hospital Ho Chi Minh city, Central Hue Hospital. In provincial hospitals, we have transfusion service but very variance. That the number of patients with thalassemia requires regular blood transfusion has been increasing results in big shortage of blood supply. At Department of Clinical Hematology-NHP, we provide patients with screening for HIV, HCV and HBV in every 6 months. Patients were done antibody screening test. Deferoxamine, deferiprone and deferasirox are currently used but in short supply. We are facing the difficulty that almost hospitals in Vietnam lack the drug which is unique for each type of chelation. We have to apply ferritin level to follow the chelation effective and MRI to measure iron overload in patients’ liver and heart. We are only able to provide SCT for the modest number of patients with thalassemia. In almost cases, we used sibling donor in SCT for patients with thalassemia. Regarding prevention service, we offer genetic counseling and prenatal diagnosis at three hospitals. We organized prevention program in Hoa Binh province on national budget. The most important future planning is expanding prevention program in provinces with high prevalence and after that in the all country. Our future plan is to set up more thalassemia centres in provincial and central hospitals where overload with patient’s demand. We also launch for appeal for blood and iron chelation to patients with thalassemia. In near future, use of haplo SCT to treatment thalassemia patients will be more.
PMCID: PMC4563497
Thalassemia; gene; treatment; planning; prevalence
23.  Psychological Aspects in Children and Adolescents With Major Thalassemia: A Case-Control Study 
Iranian Journal of Pediatrics  2015;25(3):e322.
Thalassemia is an inherited blood disease. It is a serious public health problem throughout the Mediterranean region, the Middle East and the Indian subcontinent, as well as in Southeast Asia.
Thalassemia is an inherited blood disease. It is a serious public health problem. In this study we assessed psychological aspects in Iranian children and adolescents with thalassemia major.
Patients and Methods:
In this case-control study sixty healthy subjects aged 7-18 years and Sixty Patients with confirmed diagnosis of major thalassemia were enrolled. After obtaining informed consent from parents of all participating thalassemia patients and healthycontrols, we assessed psychological aspects and quality of life by Pediatric Quality of LifeTM (PedsQL™), Strengths and Difficulties Questionnaires (SDQ), State and Trait Anxiety, Children's Depression Inventory (CDI).
The results of this study indicate that there are significant changes in depression, anxiety, QOL and behavioral screening between children with thalassemia major compared with healthy subjects by means of both parents and children reports. According to the results, children with thalassemia major have more psychological problems than healthy ones. Patients with thalassemia have a lower QOL than their peers (P = 0.001), the rate of depression is higher in this group (P = 0.015), Also behavioral problems in these children are more than healthy subjects (P = 0.009).
We recommend appropriate treatment and counseling procedures in addition to specific treatment of thalassemia. According to the results we suggest to establish pediatric psychiatric clinics beside thalassemic clinics to cure psychological aspects of the disease.
PMCID: PMC4505986  PMID: 26199704
Adolescents; Children; Quality of Life; Thalassemia Major
24.  α-Thalassemia in the American Negro 
Journal of Clinical Investigation  1972;51(2):412-418.
In Italian and Chinese patients with the α-thalassemia syndromes the production of α-chain of normal hemoglobin is decreased relative to that of β-chain in reticulocytes. In this study the relative rates of α- and β-chain synthesis were determined in members of three Negro families with α-thalassemia. Two of the families had members with hemoglobin H disease and α-thalassemia trait, while the mother of several children with α-thalassemia trait in the third family was doubly heterozygous for α-thalassemia and an α-chain mutant. The α/β ratios of globin synthesis in the patients with hemoglobin H disease and α-thalassemia trait indicated less severe biochemical defects in the peripheral blood than those previously determined in Italian and Chinese patients. In the third family, there was a heterogeneity of expression of the gene for α-thalassemia, including patients with normal red cell indices and synthesis ratios. These findings differ from those previously described in patients with α-thalassemia from other racial groups. Hydrops fetalis due to homozygous α-thalassemia may not occur in the Negro because of the relatively mild thalassemic defect.
PMCID: PMC302140  PMID: 5061833
25.  Growth and endocrine disorders in thalassemia: The international network on endocrine complications in thalassemia (I-CET) position statement and guidelines 
The current management of thalassemia includes regular transfusion programs and chelation therapy. It is important that physicians be aware that endocrine abnormalities frequently develop mainly in those patients with significant iron overload due to poor compliance to treatment, particularly after the age of 10 years. Since the quality of life of thalassemia patients is a fundamental aim, it is vital to monitor carefully their growth and pubertal development in order to detect abnormalities and to initiate appropriate and early treatment. Abnormalities should be identified and treatment initiated in consultation with a pediatric or an adult endocrinologist and managed accordingly. Appropriate management shall put in consideration many factors such as age, severity of iron overload, presence of chronic liver disease, thrombophilia status, and the presence of psychological problems. All these issues must be discussed by the physician in charge of the patient's care, the endocrinologist and the patient himself. Because any progress in research in the field of early diagnosis and management of growth disorders and endocrine complications in thalassemia should be passed on to and applied adequately to all those suffering from the disease, on the 8 May 2009 in Ferrara, the International Network on Endocrine Complications in Thalassemia (I-CET) was founded in order to transmit the latest information on these disorders to the treating physicians. The I-CET position statement outlined in this document applies to patients with transfusion-dependent thalassemia major to help physicians to anticipate, diagnose, and manage these complications properly.
PMCID: PMC3659911  PMID: 23776848
Endocrine complications; growth; guidelines; iron overload; thalassemia; treatment

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