There are some reports in which a condition of zinc deficiency and its associated outcomes with a change in concentration of serum copper among the thalassemic patients has been highlighted. The aim of this prospective study was to determine the serum zinc and copper levels in children with beta-thalassemia major.
In this cross sectional study all children under 12 years affected by beta thalassemia major (40 patients) were evaluated for serum zinc and copper levels in Qazvin thalassemia center (Qazvin, Iran) in 2007. Serum measurements for zinc and copper were performed by atomic absorption spectrophotometer.
The mean concentrations of serum zinc and copper levels were 67.35±20.38 and 152.42±24.17 µg/dl respectively. Twenty-six (65%) of thalassemic patients had zinc concentration under 70 µg/dl (hypozincemia). None of the thalassemic children had copper deficiency. No significant correlation between serum zinc level with age, weight, height, body mass index, duration of blood transfusion, desferrioxamine dose and ferritin level was observed in thalassemic patients (P=0.3).
This study revealed that hypozincemia is common in thalassemic patients, but in contrast, there is no copper deficiency. Further evaluation in this regard is recommended.
Beta-thalassemia; Zinc; Copper; Children
There is controversy regarding definition of vitamin D inadequacy. We analyzed threshold 25-hydroxyvitamin D (25[OH]D) below which intact parathyroid hormone (iPTH) increases, and examined age- and sex-specific changes of 25(OH)D and iPTH, and association of 25(OH)D and iPTH with bone mineral density (BMD) in elderly Koreans. Anthropometric parameters, serum 25(OH)D and iPTH, lumbar spine and femur BMD by dual-energy radiography absorptiometry (DXA) were measured in 441 men and 598 postmenopausal women. iPTH increased below serum 25(OH) of 36.7 ng/mL in men, but failed to reach plateau in women. Femur neck BMD above and below threshold differed when threshold 25(OH)D concentrations were set at 15-27.5 ng/mL in men, and 12.5-20 ng/mL in postmenopausal women. Vitamin D-inadequate individuals older than 75 yr had higher iPTH than those aged ≤ 65 yr. In winter, age-associated iPTH increase in women was steeper than in summer. In conclusion, vitamin D inadequacy threshold cannot be estimated based on iPTH alone, and but other factors concerning bone health should also be considered. Older people seemingly need higher 25(OH)D levels to offset age-associated hyperparathyroidism. Elderly vitamin D-inadequate women in the winter are most vulnerable to age-associated hyperparathyroidism.
Vitamin D; Intact Parathyroid Hormone; Bone Density; Age; Sex
Thirty patients with thalassemia major receiving repeated blood transfusion were studied to see their serum parathyroid hormone (PTH) and calcium status. Serum PTH, serum and 24 h urinary calcium, and serum alkaline phosphatase, phosphorus, and albumin-corrected calcium levels were determined. Half of these patients, in addition to transfusion, were also supplemented with vitamin D (60,000 IU for 10d) and calcium (1500 mg/day for 3 months). Serum PTH, and serum and 24 h urinary calcium concentrations of the patients receiving transfusions were found to be significantly reduced while their serum alkaline phosphatase, phosphorus, and albumin-corrected calcium levels were not significantly altered when compared to the respective mean values for the control group. Vitamin D and calcium supplementation significantly increased their serum PTH and calcium levels. Supplementations also increased urinary excretion of calcium. The results thus suggest that patients with thalassemia have hypoparathyroidism and reduced serum calcium concentrations that in turn were improved with vitamin D and calcium supplementation.
Parathyroid hormone; Calcium; Thalassemia
Thalassemia is a common hemoglobin disorder in Iran and one of the major public health problems. Although blood transfusions are lifesavers for thalassemia patients, they may be associated with some complications especially erythrocyte alloimmunization. The purpose of this study was to investigate the prevalence of red blood cell alloantibodies and to determine types of these antibodies among multiple-transfused thalassemic patients.
Materials and Methods:
A total of 313 thalassemia patients in the northeast of Iran, who received regular blood transfusion, were included in this study. Screening of antibodies was performed on fresh serum of all patients and then antibodies were identified in patients’ serum that had positive antibody screening test using a panel of recognized blood group antigens.
We identified 12 alloantibodies in 9 patients (2.87%) that all were against Rhesus (Rh) blood group antigens (D, C, E). Three patients developed 2 antibodies, and others had one antibody. The most common alloantibodies were Anti-D (88.88%) and followed by Anti-C and Anti-E. Higher frequency of alloimmunization was observed in female, Rh negative and splenectomized patients.
This study showed that evaluation of the packed cells for Rh (C, E) from the start of transfusion can be helpful in decreasing the rate of alloantibody synthesis.
Alloantibody; thalassemia; transfusion
Although red cell transfusions are lifesavers for patients with thalassemia, they are responsible for a series of complications and expose the patients to a variety of risks.
Material and Methods:
This cross-sectional study included 464 Egyptian beta(β) thalassemia major patients whose age ranged between 10 months and 31 years (mean 10.2 ± 6.6 years). All patients were subjected to thorough history taking with special emphasis on blood transfusions regarding rate of blood transfusion, type of received blood, and history of previous transfusion reactions in addition to type of chelation and compliance to iron chelation therapy and history of diabetes. Serum ferritin and pretransfusion hemoglobin assessment were done for all patients.
The mean pretransfusion hemoglobin level was 5.7 ± 1.16 g/dl. Allergic reactions were observed in 3.9% of the patients during the period of the study, while the history of previous allergic reaction was given by 72% of the patients. Deferiprone showed better compliance (58.6%) than deferoxamine (26.3%). The prevalence of diabetes was 10.1% among the studied group. On comparing diabetics to nondiabetics, serum ferritin, transfusion intervals, and age were statistically higher among diabetics (P<0.001).
Lower pretransfusion hemoglobin and high rate of prevalence of diabetes, in addition to better compliance to deferiprone than deferoxamine, were detected among the patients.
β-thalassemia; blood transfusion; allergic transfusion reactions; Iron chelators
Purpose of the study
to determine the efficacy, adverse effects and safety of a new Iranian generic product of deferasirox (Osveral®) in Iranian transfusion dependent major thalassemic (TD-MT) patients.
In 9 main thalassemia treatment centers, all of TD-MT patients (aged ≥2 yrs) with serum ferritin (SF) levels≥1000 ng/ml, or >100 ml/kg of RBC transfusion,who could not tolerate parental iron chelating were recruited regardless of their previous iron chelation therapy. Periodical clinical and laboratory evaluations were conducted for adverse effects (AEs). Primary efficacy end point was Mean of Relative Change of Serum Ferritin (MRC-SF) from the baseline level during one year. Analysis of variance (ANOVA), t test, chi-square or Fisher exact test were used for statistic analysis appropriately (P values <0.05 were considered as statistical significant).
In 407 cases the male/female ratio was 0.98. Mean age was 11.5±7.4 (2–58) years. The mean of initiating dose of Osveral® and mean usage dose during the study was 23.5±4.9 mg/kg and 24.9±4.9 mg/kg respectively. MRC-SF was −11.44% ±38.92 and it showed significant decline in SF (P value<0.001) one hundred and forty eight patients out of 407 patients experienced at least one. AE, the most common of them were transient increase in serum creatinin (97;24.1%) and>5 time increase in transaminases (24;5.89%).The causes of discontinuation of treatment were non-satisfactory treatment ( 24; 5.8%), poor or non-compliance of patients (21;5.1%), and adverse effects (13; 3.1%)
A detailed comparison with similar studies on deferasirox (Exjade®) shows a promising efficacy and safety for its Iranian generic product (Osveral ®).
Thalassemia; Iron Chelation,; Osveral ®; Deferasirox; Safety; Efficacy.
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.
Major thalassemia; Hypothyroidism; Serum ferritin
Human β-thalassemia major is one of the most prevalent genetic diseases characterized by decrease/absence of β-globin chain production with reduction of erythrocyte number. The main cause of death of treated β-thalassemia major patients with chronic blood transfusion is early cardiac complications that have been attributed to secondary iron overload despite optimal chelation. Herein, we investigated pathophysiological mechanisms of cardiovascular dysfunction in a severe murine model of β-thalassemia from 6 to 15-months of age in the absence of confounding effects related to transfusion. Our longitudinal echocardiography analysis showed that β-thalassemic mice first display a significant increase of cardiac output in response to limited oxygen-carrying erythrocytes that progressed rapidly to left ventricular hypertrophy and structural remodeling. Following this compensated hypertrophy, β-thalassemic mice developed age-dependent deterioration of left ventricular contractility and dysfunction that led toward decompensated heart failure. Consistently, murine β-thalassemic hearts histopathology revealed cardiac remodeling with increased interstitial fibrosis but virtual absence of myocardial iron deposits. Importantly, development of thalassemic cardiac hypertrophy and dysfunction independently of iron overload has uncoupled these cardiopathogenic processes. Altogether our study on β-thalassemia major hemoglobinopathy points to two successive phases resulting from severe chronic anemia and from secondarily induced mechanisms as pathophysiologic contributors to thalassemic cardiopathy.
AIMS: Serum concentrations of tumour necrosis factor-alpha (TNF) were determined in beta thalassemic patients before and after bone marrow transplantation (BMT) to evaluate whether changes in TNF concentrations after BMT were related to immune mediated complications. METHODS: Serum TNF concentrations were determined by enzyme linked immunoassay (EIA) in paired samples from 71 patients with beta thalassemia before and after BMT. Serial samples from 13 patients were also studied for up to six months after BMT. Forty one normal healthy children matched for sex and age were studied as controls. RESULTS: beta thalassemic patients had high serum TNF concentrations before transplantation compared with controls. These were not related to sex, age, duration of disease, number of blood transfusions, transferrin concentrations or splenectomy. DQw1 positive patients showed significantly lower TNF concentrations than non-DQw1 cases. Patients with severe liver fibrosis had significantly higher TNF concentrations. No correlation was found between TNF values and BMT outcome before transplantation but TNF alpha values fell significantly after BMT. The decrease persisted only in patients with successful engraftment. In serial samples studied for up to six months after BMT, TNF values decreased but in four out of five patients with graft rejection and in all five with acute graft versus host disease (GVHD) sharp increases occurred at the time of clinical symptoms. No correlation was found between the degree of GVHD and serum TNF-alpha concentrations nor between TNF-alpha concentrations after BMT and the presence of bacterial, viral, and fungal infections. CONCLUSIONS: About 50% of beta thalassemic patients have increased serum TNF, and the changes after BMT are related to the occurrence of immune mediate complications. The persistence of low TNF concentrations after successful engraftment may be due to the preparative regimen and the lack of adverse immune reactions.
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.
DXA; BMD; fractures; vertebral morphometry; thalassemia
Beta thalassemia major is an inherited disease resulting from reduction or total lack of beta globin chains. Patients with this disease need repeated blood transfusion for survival. This may cause oxidative stress and tissue injury due to iron overload, altered antioxidant enzymes, and other essential trace element levels. The aim of this review is to scrutinize the relationship between oxidative stress and serum trace elements, degree of damage caused by oxidative stress, and the role of antioxidant enzymes in beta thalassemia major patients. The findings indicate that oxidative stress in patients with beta thalassemia major is mainly caused by tissue injury due to over production of free radical by secondary iron overload, alteration in serum trace elements and antioxidant enzymes level. The role of trace elements like selenium, copper, iron, and zinc in beta thalassemia major patients reveals a significant change of these trace elements. Studies published on the status of antioxidant enzymes like catalase, superoxide dismutase, glutathione, and glutathione S-transferase in beta thalassemia patients also showed variable results. The administration of selective antioxidants along with essential trace elements and minerals to reduce the extent of oxidative damage and related complications in beta thalassemia major still need further evaluation.
Serum immunoreactive parathyroid hormone (iPTH) and plasma total calcium, ionized calcium, magnesium, and phosphorus levels were determined during the first 9 days of life in 137 normal term infants, 55 “sick” infants, and 43 hypocalcemic (Ca <7.5 mg/100 ml; Ca++<4.0 mg/100 ml) infants.
In the cord blood, elevated levels of plasma Ca++ and Ca were observed, while levels of serum iPTH were either undetectable or low. In normal newborns during the first 48 h of life there was a decrease in plasma Ca and Ca++, while the serum iPTH level in most samples remained undetectable or low; after 48 h there were parallel increases in plasma Ca and Ca++ and serum iPTH levels. Plasma Mg and P levels increased progressively after birth in normal infants.
In the sick infants, plasma Ca, Ca++ and P levels were significantly lower than in the normal newborns, while no significant differences were found in the plasma Mg levels. The general pattern of serum iPTH levels in the sick infants was similar to that observed in the normal group, though there was a tendency for the increase in serum iPTH to occur earlier and for the iPTH levels to be higher in the sick infants.
In the hypocalcemic infants, plasma Mg levels were consistently lower than in the normal infants after 24 h of age, while no significant differences were found in the plasma P levels. Hyperphosphatemia was uncommon and did not appear to be a contributing factor in the pathogenesis of hypocalcemia in most infants. Most of the hypocalcemic infants, including those older than 48 h, had inappropriately low serum iPTH levels.
Evidence obtained from these studies indicates that parathyroid secretion is normally low in the early new born period and impaired parathyroid function, characterized by undetectable or low serum iPTH, is present in most infants with neonatal hypocalcemia. Additional unknown factors appear to contribute to the lowering of plasma Ca in the neonatal period. The net effect of unknown plasma hypocalcemic factor(s) on the one hand and parathyroid activity on the other may account for differences in plasma Ca levels observed between normal, sick, and hypocalcemic infants. Depressed plasma Mg is frequently present in hypocalcemic infants. To what degree the hypomagnesemia reflects parathyroid insufficiency or the converse, to what degree parathyroid insufficiency and hypocalcemia are secondary to hypomagnesemia, is uncertain.
Bone mineral densiy (BMD) is known to be affected by serum 25-hydroxyvitamin D (25(OH) D) levels, intact parathyroid hormone (iPTH) levels. Indian data pertinent to above observation is scant. Our study aimed to investigate the relationships between serum 25-hydroxyvitamin D (25(OH) D) levels, intact parathyroid hormone (iPTH) levels and bone mineral density (BMD) in a cohort of Indian patients.
Materials and Methods:
Adults with or without fragility fractures with low BMD at the hip or lumbar spine were evaluated clinically along with laboratory investigations. T-scores of the hip and spine were derived from BMD-DEXA (dual-energy X-ray absorptiometry). Multivariate regression models were used to investigate the relationships between serum 25(OH) D, iPTH and BMD.
Total of 102 patients (male:female = 38:64) with a mean age of 62.5 ± 6.4 years were included in the study. Forty-four patients had osteopenia. Osteoporosis was present in 58 patients. The mean values for serum 25(OH) D and iPTH levels were 21.3 ± 0.5 ng/ml and 53.1 ± 22.3 pg/ml, respectively. In 84.3% of patients, serum 25(OH) D levels were below 30 ng/ml (Normal = 30-74 ng/ml), confirming vitamin D deficiency. There was no association between 25(OH) D levels and BMD at the hip or lumbar spine (P = 0.473 and 0.353, respectively). Both at the hip and lumbar spine; iPTH levels, male gender, body mass index (BMI) and age were found to be significant predictors of BMD. Patients with higher BMI had significantly lower BMD and T-score. At levels <30 ng/ml, 25(OH) D was negatively associated with iPTH (P = 0.041).
Among our cohort of patients with low BMD, no direct relationship between serum 25(OH) D levels and BMD was observed. However, a negative correlation between iPTH and 25(OH) D at serum 25(OH) D concentrations <30 ng/ml. Serum iPTH levels showed a significant negative association with BMD at the hip and lumbar spine. Our findings underscore the critical role of parathyroid hormone in bone metabolism and health.
Bone mineral density; osteoporosis; parathyroid hormone; vitamin D
Iron overload is an important issue in the state of thalassemic patients due to the harmful effect of high concentration of iron deposited in different tissues in human body including endocrine glands. In the present work, an attempt is carried out to estimate the effect of iron overload in thalassemic patients on the function of endocrine glands through the estimation of their ability to secrete adequate amounts of certain hormones.
Materials and Methods:
Seventy eight male children with beta-thalassemia, in the age-group of 4–11 years, were enrolled for this research. These children were being treated with frequent transfusions and long-term iron chelation therapy. Thirty age and sex matched children without thalassemia constituted the control group. Ferritin and different hormones were estimated by ELISA technique.
The results showed a mild reduction in the function of endocrine glands through the decrease in the level of some hormones. These changes due mainly to the hypoxia and precipitation of iron in certain glands and overlapping with the synthesis or secretion of the hormones.
There is a different hormonal disturbances in beta thalassemia patients. Reduction of total body iron store is an important goal of the treatment of thalassemia and measuring the hormones concentration is necessary for the follow up of the thalassemic patients especially during puberty.
Glands; hormones; iron overload; thalassemia
Transfusional hemosiderosis is a frequent complication in patients with transfusion dependent chronic diseases such as thalassemias and severe type of sickle cell diseases. As there are no physiological mechanisms to excrete the iron contained in transfused red cells (1 unit of blood contains approximately 200 mg of iron) the excess of iron is stored in various organs. Cardiomyopathy is the most severe complication covering more than 70% of the causes of death of thalassemic patients. Although the current reference standard iron chelator deferoxamine (DFO) has been used clinically for over four decades, its effectiveness is limited by a demanding therapeutic regimen that leads to poor compliance. Despite poor compliance, because of the inconvenience of subcutaneous infusion, DFO improved considerably the survival and quality of life of patients with thalassemia. Deferiprone since 1998 and Deferasirox since 2005 were licensed for clinical use. The oral chelators have a better compliance because of oral use, a comparable efficacy to DFO in iron excretion and probably a better penetration to myocardial cells. Considerable increase in iron excretion was documented with combination therapy of DFO and Deferiprone. The proper use of the three chelators will improve the prevention and treatment of iron overload, it will reduce complications, and improve survival and quality of life of transfused patients.
Repeated blood transfusion in beta thalassemia major patients may lead to peroxidative tissue injury by secondary iron overload. In the present study, 72 children with beta thalassemia major were included. Serum levels of total lipid peroxides, Iron, Total Iron Binding Capacity, Copper, Zinc, Vitamin E, plasma Total Antioxidant Capacity, activity of Erythrocyte Superoxide Dismutase, were measured. The findings were compared with 72 age matched healthy controls irrespective of sex. A significant increase in the levels of lipid peroxide and Iron (p<0.001), whereas, significant decrease in the levels of vitamin-E, Total Antioxidant Capacity and Total Iron Binding Capacity (p<0.001) was observed. Serum Zinc was significantly increased (p<0.001) with significant decrease in the levels of copper (p<0.001). Non Significant increase in the activity of Erythrocyte Superoxide Dismutase (p>0.05) was found in the patients when compared with controls. This suggest that oxidative stress and reduced antioxidant defense mechanism play an important role in pathogenesis of beta thalassemia major.
Beta thalassemia major; Oxidative stress; Antioxidants
Introduction. Outside of Wilson's Disease, abnormal copper metabolism is a rare condition. In pregnancy, excess copper levels can be associated with intrauterine growth restriction, preeclampsia and neurological disease. Case Report. A 32 year old Gravida 4 para 2012 with an obstetrical history complicated by elevated copper levels presented for routine prenatal care. Her children had elevated copper levels at birth, with her firstborn child being diagnosed with autism and suffering three myocardial infarctions and being treated for elevated copper levels. During her prior pregnancies, she declined treatment for her elevated copper levels. During this pregnancy, she had declined chelation therapy and instead choose zinc therapy. She delivered a healthy infant with normal copper levels. Conclusion. Alterations in copper metabolism are rare, the consequences in pregnancy can be devastating. While isolated elevations of copper in pregnancy is exceedingly rare, it is treated the same as Wilson's disease. The goal is to prevent fetal growth restricting and neurological sequelae in the newborn and preeclampsia in the mother. Counseling, along with treatment options and timely delivery can greatly improve neonatal and maternal outcome.
The basis of allogeneic hemopoietic stem cell (HSC) transplantation in thalassemia consists in substituting the ineffective thalassemic erythropoiesis with and allogeneic effective one. This cellular replacement therapy is an efficient way to obtain a long lasting, probably permanent, clinical effective correction of the anaemia avoiding transfusion requirement and subsequent complications like iron overload. The first HSC transplant for thalassemia was performed in Seattle on Dec 2, 1981. In the early eighties transplantation procedure was limited to very few centres worldwide. Between 17 December 1981 and 31 January 2003, over 1000 consecutive patients, aged from 1 to 35 years, underwent transplantation in Pesaro. After the pioneering work by the Seattle and Pesaro groups, this therapeutic approach is now widely applied worldwide. Medical therapy of thalassemia is one of the most spectacular successes of the medical practice in the last decades. In recent years advances in knowledge of iron overload patho-physiopathology, improvement and diffusion of diagnostic capability together with the development of new effective and safe oral chelators promise to further increase success of medical therapy. Nevertheless situation is dramatically different in non-industrialized countries were the very large majority of patients live today. Transplantation technologies have improved substantially during the last years and transplantation outcome is likely to be much better today than in the ‘80s. Recent data indicated a probability of overall survival and thalassemia free survival of 97% and 89% for patients with no advanced disease and of 87% and 80% for patients with advanced disease. Thus the central role of HSC in thalassemia has now been fully established. HSC remains the only definitive curative therapy for thalassemia and other hemoblobinopathies. The development of oral chelators has not changed this position. However this has not settled the controversy on how this curative but potentially lethal treatment stands in front of medical therapy for adults and advanced disease patients. In sickle cell disease HSC transplantation currently is reserved almost exclusively for patients with clinical features that indicate a poor outcome or significant sickle-related morbidity.
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin. This disorder results in excessive destruction of red blood cells, and there is no effective treatment. Patients require lifelong blood transfusion, usually started within 6 to 12 months of birth of patient, which on other hand has its own complications. It is a chronic disease that manifests so early in life that it leads to psychological and social problems for parents . We focused on parents to assess the impact of their child’s disease.
To determine the psychosocial problems of parents of thalassemic children.
This cross sectional study was conducted among the parents of thalassemic children attending THALASSEMIA CENTRE, BAHAVAL VICTORIA HOSPITAL (BVH), BAHAWALPUR, PAKISTAN during the year 2011. A self designed questionnaire was used that contained questions regarding psychological and social aspects. Patient Health Questionnaire-9 (PHQ-9) was used to assess the depression of parents of thalassemic children.
Of the 100 parents interviewed, the majority were mothers (71%) , with a mean age of 32 ± 8.07 years for both sexes. 29 percent of the parents had moderate to severe depression, 16 percent had sleep disturbances. 56 percent were downgraded by relatives. There was a significant relationship between respondent education and depression (p < 0.05).
A substantial number of parents have psychosocial problems due to the disease of their child. Parent counseling is needed on regular basis.
Parents; Psychological morbidity; Thalassemia; Social relationship; Adjustment disorder; Pakistan
Acute PTH administration enhances final urine acidification in the rat. HCl was infused during 3 h in rats to determine the parathyroid and renal responses to acute metabolic acidosis. Serum immunoreactive PTH (iPTH) concentration significantly increased and nephrogenous adenosine 3H,5H-cyclic monophosphate tended to increase during HCl loading in intact and adrenalectomized (ADX) rats despite significant increments in plasma ionized calcium. Strong linear relationships existed between serum iPTH concentration and arterial bicarbonate or proton concentration (P less than 0.0001). Serum iPth concentration and NcAMP remained stable in intact time-control rats and decreased in CaCl2-infused, nonacidotic animals. Urinary acidification was markedly reduced in parathyroidectomized (PTX) as compared with intact rats during both basal and acidosis states; human PTH-(1-34) infusion in PTX rats restored in a dose-dependent manner the ability of the kidney to acidify the urine and excrete net acid. Acidosis-induced increase in urinary net acid excretion was observed in intact, PTX, and ADX, but not in ADX-thyroparathyroidectomized rats. We conclude that (a) acute metabolic acidosis enhances circulating PTH activity, and (b) PTH markedly contributes to the renal response against acute metabolic acidosis by enhancing urinary acidification.
Transient hypocalcemia is one of the postoperative complications of thyroidectomy for thyroid nodules, and intraoperative and postoperative intact parathyroid hormone (iPTH) assays are used to predict postoperative hypocalcemia.
The current study was conducted to evaluate a single serum iPTH measurement on postoperative day 1 (POD 1) as a means to predict hypocalcemia occurrence after total thyroidectomy (TT).
Patients and Methods
The subjects consisted of 36 patients who underwent TT and 260 patients who underwent TT plus lymph node (LN) dissection for thyroid nodules treatment. The TT performance procedure to prevent postoperative hypoparathyroidism combines parathyroid gland preservation in situ with autotransplantation of resected or devascularized parathyroid glands. The patients’ serum iPTH level was measured on POD 1, and their serum calcium level was measured on POD 1 and on POD 3 while they were still inpatients. The serum iPTH level was subequently measured at each outpatient clinic visit until it recovered to the normal range.
Hypoparathyroidism after TT and TT plus LN dissection was ultimately diagnosed in a total of 229 patients, and in 69 of them hypocalcemia was diagnosed on POD 1. All of the 69 patients diagnosed with hypocalcemia received calcium and vitamin D supplementation therapy. The serum iPTH level of 67 of 229 patients was within normal range on POD 1, and four of them developed hypocalcemia on POD 1. Permanent hypoparathyroidism developed in 37 of 296 patients after undergoing TT or TT plus LN dissection for thyroid nodules in the hospital.
A single serum iPTH measurement on POD 1 is useful to determine whether or not to start calcium and vitamin D supplementation in order to maintain normocalcemia after surgery.
Hypoparathyroidism; Hypocalcemia; Thyroidectomy, Thyroid Nodule; Parathyroid
Zinc and copper have important effects on T cell mediated immunity and on neutrophil function, but it is not known how the causes or effects, of low serum zinc and high serum copper relate to the clinical picture of rheumatoid arthritis (RA). In this study serum zinc and copper determined by flame atomic absorption spectrometry and 30 other clinical, immunological, and laboratory parameters in 60 patients with RA were analysed by stepwise multiple linear regression analysis. Joint score index, rheumatoid factor titre, seropositivity, haemoglobin, and C reactive protein (CRP) were among the nine independent variables which together predicted 73% of the serum zinc variation. This suggests that there is an association between the immune-inflammatory rheumatoid process and the serum zinc concentration. CRP alone had only a 3% independent predicting value for serum zinc, however. This suggests that metallothionein mediated sequestration in the liver, induced by interleukin 1, is not an important explanatory factor in a cross sectional study of chronic inflammation. Furthermore, serum zinc did not have any predictive value at all for serum copper concentration. This does not support the hypothesis suggesting that serum zinc deficiency leads to high serum copper by inducing gastrointestinal metallothionein and high caeruloplasmin.
Objective: Adiponectin and its receptors are known to be expressed in osteoblasts and may have important functions in normal bone cells. The aim of this study was to investigate the effect of vitamin D therapy on serum adiponectin levels in children with vitamin D deficiency rickets (VDDR).
Methods: 21 patients with VDDR were included in the study. Patients were treated with 300,000 U D3 (IM) and calcium lactate (50mg/kg/ day, PO, for 10 days). Anthropometric parameters and serum biochemical markers including calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), intact parathormone (iPTH), 25-hydroxyvitamin D (25(OH)D), and adiponectin levels were measured before and after one month of therapy.
Results: Weight and length, but not BMI, increased significantly after treatment. Serum 25(OH)D level increased significantly after treatment, while serum adiponectin level decreased (4.21±1.84 vs 52.73±17.63 ng/ml, p<0.000; 150.1±66.14 vs 84.29±9.06 mg/ml, p<0.000, respectively). No significant correlations were found between serum adiponectin and 25(OH)D levels before and after treatment or between delta adiponectin concentrations and delta 25(OH)D levels.
Conclusion: Serum adiponectin levels are increased in patients with VDDR, a finding which is probably related to increased osteoblastic activity.
Conflict of interest:None declared.
treatment; Vitamin D; Adiponectin; rickets
Effective transfusion and chelation have prolonged the quality and longevity of life in thalassemics, who now survive into adulthood. Hence, adult physicians need to be aware of their clinical and laboratory profile and the problems faced by them.
The present study was aimed to evaluate the clinical profile of adult thalassemics.
Materials and Methods:
Adult (>18 years) thalassemia major patients (n=19) were evaluated clinically and fasting pretransfusion blood samples were analyzed for complete blood counts, kidney and liver function tests, plasma glucose, serum ferritin, and thyroid hormone levels.
Average age was 21.65±2.47 years (range 19–28 years), 42.1% had Body mass index (BMI) <18.5. Splenectomy had been performed in 47.4% before reaching adulthood, males significantly outnumbered females (72% vs. 12.5%). Hemoglobin levels <8 g/dl were observed in 31.6% and none had serum ferritin levels in the recommended range suggesting inadequacy of both transfusion and chelation. Indirect hyperbilirubinemia was observed in 21.1% patients although kidney functions, serum protein, and albumin were normal in all patients. Electrocardiographic abnormalities, diabetes mellitus or hypothyroidism were absent. Five patients (26.3%) had contracted transfusion-transmitted viral infections – 21.1% and 5.3% respectively had antibodies to hepatitis C virus and HIV, while 5.3% were positive for Australia antigen. All patients were receiving chelation therapy – deferiprone alone (78.9%) or along with desferrioxamine (21.1%). Average dose of deferiprone being used was 95±8 mg/kg.
Adult thalassemia major patients present with a distinct clinical profile having low BMI, generalized hyperpigmentation, most are splenectomized, have low hemoglobin, inadequate chelation and harbor transfusion-transmitted infections. Adult physician needs to be aware of this profile.
Adult; Chelation; Thalassemia major; Transfusion
The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region. The aim of this study was to determined frequency of sensory-neural hearing loss in major ß- thalassemias transfusion dependent patients in south of Iran.
A cross sectional study on 308 cases of major beta-thalassemia patients referring to Thalassemia Center of Shiraz University of Medical Sciences between 2006–2007 years. The diagnosis of ß- thalassemia major was based on clinical history, complete blood count and hemoglobine electrophoresis. Clinical data such as serum ferritin level, deferoxamine (DFO) dose, mean daily doses of DFO (mg/kg) and audiometric variables was recorded.
Out of 308 cases, 283 (96.5%) had normal hearing and 10 (3.5%) sensorineural hearing loss. There was no statically significant difference between two groups regarding mean age, weight, age at the first blood transfusion, age at the first DFO infusion.
We found the lowest incidence of sensorineural hearing loss in a large population of patients suffered from major thalassemia who received DFO. We show that DFO is not ototoxic at a low dose. When considering all related literature, as a whole there has been much critical misrepresentation about DFO ototoxicity.
Thalassemia; Sensorineural Hearing Loss; Blood Transfusion; Deferoxamine; Ferritin