Background: Thalassemia is a chronic disease with serious clinical and psychological challenges. The incidence of thalassemia in a family member may cause a psychological crisis in all family members and in this case coping strategies are required. This clinical trial study aimed to determine the impact of training coping strategies on their use by major thalassemic adolescents referred to Dastgheib Hospital in Shiraz.
Methods: In this randomized clinical trial, 87 adolescents with major thalassemia who were randomly assigned to two groups of experiment and control were enrolled. Then the experiment group attended six sessions of coping strategies training program in isolation, each lasting for one and half hour. In order to examine the coping strategies, Jalowice’s coping strategy questionnaire was used in three periods including pre-intervention period and one month and two months after the intervention. The collected data were analyzed using independent t-test and Chi-square.
Results: Mean scores of problem-focused coping strategies in the experiment group increased in one month and two months after the intervention from 45±12.7 to 54.8±7.3 and 55.7±7.2, respectively. Also, the difference in mean scores of problem-focused coping strategies was significant in the two groups (P<0.001). Furthermore, the difference in mean scores of emotion-focused coping strategies was significantly different between the two groups in two months after the intervention (P=0.007).
Conclusion: Based on the obtained results, teaching coping strategies has improved the use of problem-focused coping strategies and also effective coping with stress and disease problems in patients with thalassemia major. Therefore, it is recommended that authorities should consider this as a part of treatment program.
Trial Registration Number: IRCT2013112215484N1
Coping; Education; Thalassemia major
Endocrine dysfunction is not uncommon complication in patients with transfusion-dependent thalassemia and is thought to occur as a consequence of excessive iron overload. The primary objective of this study is to determine the frequency of adrenal insufficiency in patients with thalassemia major and thalassemia intermediate.
This cross-sectional study was done at the Shiraz University of Medical Sciences, Shiraz, Southern Iran, in 2013. One hundred and ninety patients were divided into two groups; thalassemia major(TM) and thalassemia intermediate (TI) groups. We measured 8 AM serum cortisol, ACTH and ferritin concentrations in all patients.
The mean age of the TM and TI group were 22.5±5.7 and 23.8±6 years, respectively. 90 patients (47.4%) were splenectomized, 34 (36.2%) with TM and 56 (58.2%) with TI (p :<0.001). The median and interquartile range of serum ferritin levels were 2184±3700 ng/ml and 437±443ng/ml in TM and TI respectively (p< 0.001). Three patients with TM (1.6%) had low basal cortisol and ACTH levels. However, their cortisol response to ACTH stimulation was normal.
Low basal concentrations of cortisol and ACTH occurred in 1.6% of our adolescents young adult patients with TM suggesting a central defect in cortisol secretion at the basal state. However, cortisol response to standard – dose ACTH was normal in all patients with TM and TI.
Background: High serum level of cancer antigen 15.3 (CA15.3) has been reported in some malignant and nonmalignant conditions including thalassemia major which could have been resulted from ineffective erythropoiesis. We aimed to evaluate the serum level of CA15.3 in carriers of beta-thalassemia by comparing them with cancer patients and healthy individuals.
Methods: This cross-sectional study was done from February to December 2011 in Southern Iran. Participants consisted of 32 subjects with beta-thalassemia minor, 49 with cancer and 25 healthy individuals. The serum levels of CA15.3 were measured and compared in different groups.
Results: The serum levels of CA 15.3 in all participants were in the normal range (<35 U/mL). Also it did not significantly differ among various groups of the participants (p=0.723). Age was not significantly correlated with the serum level of CA 15.3 (r= 0.039, p=0.702). The most frequent cancer in the group of patients with malignancies was hematologic malignancies (96%) with the highest frequency for acute lymphoblastic leukemia (37 patients). Frequency of thalassemia minor in patients with cancer was 11 (22.4%).
Conclusion: No correlation was found between CA 15.3 serum level with beta-thalssemia minor or with childhood malignancies. Compared to general population, a high proportion of beta-thalssemia minor was observed in patients with cancer in our study. Future prospective studies are needed to evaluate the relationship between cancer and beta-thalassemia minor accurately.
Beta-thalassemia minor; Cancer; Cancer antigen 15.3
Recent studies regarding the effect of hydroxyurea (HU) in thalassemia have revealed favorable effects on the reduction of ineffective erythropoiesis.
The aim of the current study was to evaluate whether or not HU can have an effect on the gallstone formation rate in patients with beta-thalassemia intermedia (BTI).
Patients and Methods:
In this case control cross-sectional study, from a total of 250 transfusion-independent BTI patients, 51 patients who were taking HU, participated in the study. Patients were registered in the Thalassemia clinic of Shiraz University of Medical Sciences, Shiraz, which is a referral center located in southern Iran, during 2011-2012. Mean dose of HU consumption in the case group was 10 ± 2.5 mg/kg/day (range of 8-15 mg/kg/day), with a mean duration of consumption of 7.5 ± 3.8 years (range 1-14 years). In addition, 41 age- and sex-matched BTI patients who did not use HU were randomly selected as a control group. All patients underwent abdominal ultrasound by a radiologist for evaluation of gallstones.
Mean age of the participants was 21.4 ± 6.5 years (10-40 years). There was no statistically significant difference regarding the frequency of cholelithiasis between the two groups of patients (P = 0.822). Our study showed significantly lower hemoglobin levels and a higher percentage of nucleated red blood cells in the HU group compared with the control group (P = 0.001 and P = 0.005, respectively).
It seems that taking HU for long periods can reduce hemolysis and bone marrow suppression, and that decreases the rate of cholelithiasis. We believe that if these patients had not been treated with HU, we would probably have observed a significantly higher frequency of cholelithiasis, due to more hemolysis compared with patients not taking HU. Further studies with larger sample sizes are suggested.
Beta Thalassemia Intermedia; Cholelithiasis; Hydroxyurea
β-Thalassemia is an inherited hemoglobin disorder caused by defective synthesis of ß-globin chains. Hemoglobin (Hb) F induction is a possible therapeutic approach which can partially compensate for α and non-α globin chains imbalance.
We aimed to investigate the efficacy and safety of Hydroxyurea (HU) in diminishing transfusion requirements of patients with β-thalassemia major in Southern Iran.
Patients and Methods:
In this single-arm clinical trial, all transfusion-dependent β-thalassemia patients older than two years old (n = 97) who had inclusion criteria of the study and had been registered for at least six months in Dastgheib thalassemia outpatient clinic (a referral center affiliated to Shiraz University of Medical Sciences) were evaluated from October 2010 to December 2011. The patients were treated with HU with a mean dose of 10.5 mg/kg for a mean duration of 8 months (range 3-14 months). Transfusion needs and Hb levels were compared before and after HU treatment.
The mean volume of blood transfusion decreased significantly following HU treatment (0.71 mL/kg/day vs. 0.43 mL/kg/day, P < 0.001). Two-thirds of the patients showed good and partial response. No serious adverse reaction was observed except persistent neutropenia in two patients.
Hydroxyurea can be safely used in some transfusion-dependent β-thalassemia patients to decrease their transfusion needs.
Hydroxyurea; Blood Transfusion; β-Thalassemia
Objective: The diagnosis of hereditary red blood cell (RBC) membrane disorders, and in particular hereditary spherocytosis (HS) and Southeast Asian ovalocytosis (SAO), is based on clinical history, RBC morphology, and other conventional tests such as osmotic fragility. However, there are some milder cases of these disorders that are difficult to diagnose. The application of eosin-5’-maleimide (EMA) was evaluated for screening of RBC membrane defects along with some other anemias. We used EMA dye, which binds mostly to band 3 protein and to a lesser extent some other membrane proteins, for screening of some membrane defects such as HS.
Materials and Methods: Fresh RBCs from hematologically normal controls and patients with HS, SAO, hereditary elliptocytosis, hereditary spherocytosis with pincered cells, severe iron deficiency, thalassemia minor, and autoimmune hemolytic anemia were stained with EMA dye and analyzed for mean fluorescent intensity (MFI) using a flow cytometer.
Results: RBCs from patients with HS and iron deficiency showed a significant reduction in MFI compared to those from normal controls (p<0.0001 and p<0.001, respectively), while macrocytic RBCs showed a significant increase in MFI (p<0.01). A significant correlation was shown between mean corpuscular volume and MFI, with the exceptions of HS and thalassemia minor.
Conclusion: Our results showed that the flow cytometric method could be a reliable diagnostic method for screening and confirmation, with higher sensitivity and specificity (95% and 93%, respectively) than conventional routine tests for HS patients prior to further specific membrane protein molecular tests.
RBC; Membrane disorders; Band 3; Flow cytometry
IGF-1 deficiency in TM patients in children and adolescents has been attributed to chronic anemia and hypoxia, chronic liver disease, iron overload and other associated endocrinopathies, e.g. growth hormone deficiency (GHD). Few data are available in the literature regarding adult TM patients and growth disorders. The aim of this study was to measure IGF-1 values and other clinical data in a large number of adult patients with TM to evaluate the possible relationships between them.
Patients and Methods
A cohort of 120 adult patients with TM was studied for plasma levels of IGF-1. Plasma total IGF-1 was determined by chemiluminescent immunometric assay (CLIA) method. In eleven patients (3 females) the GH response during glucagon stimulation test (GST) was also evaluated.
Fifty percent of patients (33 males and 27 females) had IGF-1 levels <- 2 SDs below normative values for healthy subjects matched for age and sex. In these patients endocrine complications and elevations of aminotransferases (ALT) were more common compared to TM patients with IGF1 > -2SDs. In multivariate regression analyses, height, weight, BMI, serum ferritin, ALT, HCV serology and left ventricular ejection fraction (LVEF) were not significantly related to IGF-1, but a significant correlation was found in females between HCV-RNA positivity and IGF-1, ALT and serum ferritin. AGHD was diagnosed in 6 (4 males) out of 11 patients (54.5%) who had glucagon stimulation tests and in 5 out of 8 (62.5%) with IGF-1 <-2SD. The mean age of patients with GHD was 39.3 years (range: 25–49 years, median: 39 years) versus 35.8 years (range: 27–45 years, median: 37.5 years) in non-GHD patients. A positive correlation between GH peak after GST and IGF-1 level was found (r: 0.6409; p: < 0.05).
In 50% of TM patients the IGF-1 levels were 2SDs below average values for healthy individuals. IGF-1 deficiency was more common in TM patients with associated endocrine complications, and a significant correlation was found in HCV-RNA positive females among IGF-1, ALT, and serum ferritin. Further data in a larger group of patients are needed to confirm whether IGF-1 level <-2 SDs may be a potential criterion for additional studies in TM patients. This datum could avoid performing GH stimulation tests in the majority of them.
Hydroxyurea (HU) has been successfully used in patients with β-thalassemia intermedia (β-TI). We aimed to evaluate the effect of the long-term use of HU on thyroid function in patients with β-TI. Seventy-five patients with β-TI aged≥11 years and taking HU were randomly selected during 2010 in southern Iran. Thirty-one patients with β-TI without HU were considered as a control group. Serum levels of thyroid stimulating hormone (TSH) and T4 were measured. The mean age of the participants was 22.7±5.1 years (age range=12-41 years). Serum ferritin level had no significant correlation with HU consumption (P>0.05). Overall, we detected 10 (9.4%) patients with hypothyroidism. We found that the use of HU at a dose of 8-15 mg/kg/day has no significant association with thyroid function in β-TI patients. However, due to the small sample size in our study, documentation of this finding needs further studies with higher numbers of patients.
Thalassemia intermedia; Hydroxyurea; Thyroid function
To evaluate the efficacy of prothrombin complex concentrate (PCC) in the management of bleeding in patients with liver disease and patients undergoing surgery or biopsy who had a high uncorrected international normalized ratio (INR).
In this study, we examined an Iranian sample and investigated the efficacy of PCC to manage bleeding in patients with liver disease and also patients with high uncorrected INR who were scheduled for surgery or biopsy.
Materials and Methods:
A total of 25 patients including 16 patients with post-liver disease bleeding (group 1) and 9 patients with high uncorrected INR who were scheduled for surgery or biopsy (group 2) were enrolled. All patients were treated with 25 IU/kg PCC, and efficacy was defined as any reduction in or cessation of bleeding episodes and correction of INR before surgery or biopsy. The patients were also evaluated for any adverse effects.
INR decreased significantly in both groups of patients, with no bleeding episodes during or after the study in group 1 and during or after surgery/biopsy in group 2. All patients tolerated the therapy well without any significant adverse effects.
The efficacy of PCC therapy was satisfactory in this study. PCC therapy in patients with liver disease and patients undergoing surgery or biopsy seems to be effective and safe, and may be a good treatment strategy for these patients, if fresh frozen plasma or vitamin K are not effective.
Prothrombin Complex Concentrates; Liver Diseases; General Surgery; International Normalized Ratio
Recurrent pregnancy loss (RPL) is a common health problem. The polymorphisms G20210A of prothrombin gene (FII G 20210A), and G 1691A of factor V gene (Factor V Leiden, FVL) are the most extensively studied thrombophilic mutations in association to recurrent miscarriage.
To determine the frequency of FII G20210A and FVL polymorphisms as well as protein C and protein S deficiency in a series of patients with RPL compared with control group.
Patients and Methods:
The study group included 90 randomly selected patients with three or more consecutive miscarriages with the same partner in <20 weeks gestation in 2012. The control population consisted of 44 age-matched women with at least one live born children and no history of pregnancy loss. Functional activity of protein C and S, activated protein C resistance, FVL assay by polymerase chain reaction and prothrombin gene mutation were assessed. The polymorphism frequencies were recorded for each group and comparisons were made.
The mean functional activity of protein C and protein S were not significantly different between case and control groups (P >0.05). Frequency of protein C deficiency was also not significantly different between the case and control groups (P=0.906), but frequency of protein S deficiency was significantly higher in patients than controls (P=0.03). Genotype pattern of the patients and healthy individuals were not significantly different with regard to either FVL or Prothrombin G20210A (P > 0.05).
We determined a significant higher frequency of protein S deficiency in patients with RPL compared with controls. But the frequency of protein C deficiency and the frequency of two common thrombophilic mutations (Factor V Leiden and Prothrombin G20210A), were not significantly different between patients with recurrent miscarriage and healthy women.
Inherited; Pregnancy loss; Thrombophilia
Meningoencephalitis caused by Acanthamoeba spp. is a rare opportunistic infection, difficult to diagnose and treat, which causes death in almost all cases. Here, the authors report a 5-year-old Iranian immunocompetent girl who died of fulminant acanthamoeba meningoencephalitis. To the authors’ knowledge, this is the first case of acanthamoeba meningoencephalitis in Iran.
Hepatic calcification is usually associated with infectious, vascular, or neoplastic processes in the liver. We report the first case of beta-thalassemia major with isolated diffuse hepatic calcification in a 23 year old woman, who had been transfusion-dependent since the age of 6 months. She was referred to our center with a chief complaint of abdominal pain. Computed tomography scan of the abdomen revealed diffuse hepatic calcification in the right, left, and caudate lobes of the liver. Her medical history disclosed hypoparathyroidism as well as chronic hepatitis C virus infection, which was successfully treated but led to early micronodular cirrhosis on liver biopsy. Other studies done to search for the cause of hepatic calcification failed to reveal any abnormalities. We suspect that hypoparathyroidism caused liver calcification, and should be, therefore, considered in the differential diagnosis of hepatic calcification if other causative factors have been ruled out.
Beta-Thalassemia major; Hepatic; Calcification; Hypoparathyroidism
DDAVP; preeclampsia; Pregnancy; deficiency; Platelet
Prematurity is an issue related to increasing the neonatal morbidity and mortality and smoking pregnant women cause the risk of low birth weight and prematurity increase, compared to non-smoking ones.
This study investigates second-hand smoke (SHS) exposure’s effects over pregnant women on gestational age and birth weight.
Materials and Methods
In this descriptive-analytic study, 205 women referred to both public and private hospitals in the third trimester were questioned about second-hand smoke (SHS) exposure during pregnancy. In addition to birth weight and gestational age, other variables including mother’s education and job and sex of the newborns were also assessed.
Of all 205 women, 43 (20.97%) women exposed to SHS during pregnancy and 162 (79.02%) women did not. In SHS exposure group, 11 infant (25.6%) and in non- SHS exposure group, 17 infant (10.5%), were born prematurely (< 37 weeks) (P = 0.01). Also birth weight of newborn in non-SHS exposure group was 118 gram more than other group but the differences were not significant (P = 0.09).
Our findings showed that the secondhand smoke (SHS) exposure of pregnant women may be significantly associated with early preterm delivery.
Smoke; Pregnancy; Preterm Delivery; low birth weight
Beta-thalassemia is a type of anemia in which the patients may require splenectomy and this can lead to thrombocytosis with increased risk of stroke. Transcranial Doppler ultrasound is a method for determining cerebral vessel stenosis.
The aim of this study was to investigate whether the risk of a future stroke secondary to cerebral artery stenosis can be predicted with the use of transcranial Doppler ultrasound in beta-thalassemia major patients.
Patients and Methods
This study included 54 beta-thalassemia major patients divided into 2 groups; group A consisted of 28 patients who have thrombocytosis secondary to a previous splenectomy and group B comprised of 26 patients who did not have a splenectomy with normal platelet count, as well as a control group of 30 healthy individuals.
Transcranial Doppler ultrasound of the cerebral vessels were performed in all participants, and the results for each group were compared with the controls. In addition, patients were evaluated for evidence of high flow velocity in the cerebral vessels that met the clinically significant criteria of ≥ 50% stenosis. Transcranial Doppler ultrasound velocity criteria for > 50% stenosis, indicating a risk of stroke, were not documented in any patients but increase in cerebral blood velocities in many arteries in group A and in some arteries in group B were revealed.
Following splenectomy, thrombocytosis can predispose the patients to an increase in cerebral blood velocities more than respected with anemia. But by transcranial doppler ultrasonography no evidence of significant stenosis were found in intracerebral arteries to conclude that the beta-thalassemia major patients were more prone to the development of stroke secondary to this abnormality.
Beta-thalassemia; Thrombocytosis; Ultrasonography, Doppler, Transcranial
Leukemia is the most prevalent type of cancer in children. The aim of this study was to estimate the 5-year survival rates of Acute Lymphoblastic Leukemia (ALL) and Acute Myeloblastic Leukemia (AML) as well as factors influencing them.
This is a nonrandomized retrospective study conducted on 280 patients with ALL and AML. They were all below 15 years old children admitted to Shahid Faghihi hospital, Shiraz, Iran from 2004 to 2008.The survival rates were estimated by applying the Kaplan-Meier method. In addition, the log rank test was used to estimate the statistical significance of differences in the survival probability. Cox regression model was applied to conduct multivariate analysis for adjusting confounding variable. All analyses were performed in SPSS statistical software (version 16). P-values less than 0.05 were considered as statistically significant.
The mean (± standard deviation) of the observation period was 28.2±16.1 months. In this period, 60 (24.7%) patients (47 ALL and 15 AML) passed away. The cumulative rate of survival in this study was 53.3±0.1 percent. This probability was 56.6±0.1% and 44.2±0.1% for ALL and AML patients, respectively, which indicates no statistically significant difference between them (P=0.8). According to Cox model, there was a significant relationship among the variables of platelet count and relapse with the survival rate.
Platelet count was identified as a positive prognostic factor of the survival rate in ALL patients. However, on the base of our results and other studies, incidence of relapse and the number of relapses are significant factors of survival rates of leukemia.
Lymphoblastic Leukemia; Myeloblastic Leukemia; Survival Rate; Relapse
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.
Endocrine complications; growth; guidelines; iron overload; thalassemia; treatment
Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory autonomic neuropathies type IV (HSAN type IV) is an extremely rare autosomal recessive disorder initially described by Swanson in 1963.
We report a 2.5-year-old boy with clinical features of CIPA as the first case in Iran. The symptoms included recurrent episodes of hyperthermia and unexplained fever that began in early infancy, anhidrosis (inability to sweat), profound loss of pain sensitivity, neurodevelopmental delay, unconscious self-mutilation of fingers, lips and tongue, corneal lacerations, palmar hyperkeratosis, non-painful fracture and joint deformities in the right ankle. Tearing, deep tendon reflexes and motor and sensory nerve action potentials were normal.
Prenatal screening is the sole accessible option to prevent the birth of an affected child as no cure is available. Early recognition of CIPA patients and its orthopedic complications, prevention of accidental injuries, regular visual and eye follow-up and specific dental management could be useful in the reduction of frequency and severity of complications.
HSAN type IV; Congenital insensitivity to pain; Anhidrosis
Introduction. Patients with β-thalassemia intermedia have a higher incidence of thromboembolic events compared to the general population. Previous studies have shown that patients with sickle cell disease, who are also prone to ischemic events, have higher intracranial arterial blood flow velocities measured by transcranial Doppler sonography (TCD). The aim of this study is to evaluate intracranial arterial flow velocities in patients with β-thalassemia intermedia and compare the results with those found in healthy subjects. Methods. Sixty-four patients with β-thalassemia intermedia and 30 healthy subjects underwent transcranial Doppler sonography. Results. Significantly higher flow velocities were found in intracranial arteries of patients compared to controls (P = 0.001). Previously splenectomized patients with thrombocytosis showed higher flow velocities than nonsplenectomized patients without thrombosis. Conclusion. The increased flow velocities in patients with β-thalassemia intermedia may point to a higher risk of ischemic events. Preventive measures such as blood transfusion or antiplatelet treatment may be beneficial in these patients.
Acute lymphoblastic leukaemia and acute myeloblastic leukaemia are the most common malignancies diagnosed in children. Facial palsy is an acute peripheral palsy involving the facial nerve and is an unusual presentation of childhood acute leukaemia. We present three cases (a 9-year-old boy, a 14-year-old boy and a 10-year-old boy) of acute leukaemia with initial presentation of facial palsy. It is important for physicians to recognise the neurological manifestations of childhood leukaemia and extensive work-up should be carried out to exclude secondary causes of facial palsy.
Background: β-thalassemia is the most common hereditary disease in Iran and more than 2 million carriers of the β-thalassemia mutant gene are living in this country.
Objective: To determine pregnancy outcome of women with β-thalassemia minor.
Materials and Methods: In this retrospective, case-control study in two universities affiliated hospitals in Shiraz, all pregnancies occurred between 2006 and 2008 were included. Patients were divided in two groups regarding the presence of β-thalassemia minor. Patients in case and control groups were matched according to maternal age, gestational age and number of previous pregnancies. Cesarean delivery, hypertensive disorders, gestational diabetes mellitus, premature rupture of membranes and preterm labor were recorded in each group and were compared using the χ2 or Fisher exact tests.
Results: Overall 510 β-thalassemia minor subjects and 512 healthy controls were studied. Cases with β-thalassemia minor had significantly higher prevalence of oligohydramnios (p<0.001) and cesarean section delivery (p=0.001). There was no significant difference regarding Apgar score in 1st (p=0.65) and 5th minute (p=0.25), IUGR (p=0.073), gestational diabetes mellitus (DM) (p=0.443) and preeclampsia (p=0.116) between two study groups.
Conclusion: β-thalassemia minor does not significantly influence the pregnancy outcome in the negative way.
Minor β-thalassemia; Pregnancy outcome; Gestational diabetes mellitus; Oligohydramnios
Beta thalassemia major is a prevalent hereditary disease in Mediterranean region especially Iran. Early blood transfusion is necessary for most of the patients and frequent transfusion can cause various medical problems for the patients. The aim of this study was to find major causes of hospital admission in beta thalassemia major patients to reach the accurate preventive and therapeutic plans for these patients.
Four hundred twenty six patients were admitted to the Nemazee Hospital (the main University referral Hospital Center affiliated to Shiraz University of Medical Sciences in Fars Province, southern Iran) during 3 years period (January 2007 to January 2010). A questionnaire was filled containing age, gender, hemoglobin level, frequency of blood transfusions, deferoxamine injection, cause of hospital admission and hospital course.
The mean age of patients was 11.28 years. The mean serum ferritin level was 1820±749 µg/lit. Two hundred fifty five (59.75%) patients were male and 171 (40.25%) patients were female. The top five most prevalent causes of hospital admission were splenectomy (21.8%), infections (19.9%), congestive heart failure (19.0%), diabetes mellitus (13.4%), and Liver biopsy (11.5%). (P=0.0002)
Results of this study revealed that infections and complications due to iron overload are major causes of hospital admission in beta thalassemia major patients.
Beta Thalassemia major; Hospitalization; Complication; Iran
In developing countries, the treatment of hemophilia patients with inhibitors is presently the most challenging and serious issue in hemophilia management, direct costs of clotting factor concentrates accounting for >98% of the highest economic burden absorbed for the health care of patients in this setting. In the setting of chronic diseases, cost-utility analysis, which takes into account the beneficial effects of a given treatment/health care intervention in terms of health-related quality of life, is likely to be the most appropriate approach.
The aim of this study was to assess the incremental cost-effectiveness ratios of immune tolerance induction (ITI) therapy with plasma-derived factor VIII concentrates versus on-demand treatment with recombinant-activated FVIIa (rFVIIa) in hemophilia A with high titer inhibitors from an Iranian Ministry of Health perspective.
This study was based on the study of Knight et al, which evaluated the cost- effectiveness ratios of different treatments for hemophilia A with high-responding inhibitors. To adapt Knight et al’s results to the Iranian context, a few clinical parameters were varied, and cost data were replaced with the corresponding Iranian estimates of resource use. The time horizon of the analysis was 10 years. One-way sensitivity analyses were performed, varying the cost of the clotting factor, the drug dose, and the administration frequency, to test the robustness of the analysis.
Comparison of the incremental cost-effectiveness ratios between the three ITI protocols and the on-demand regimen with rFVIIa shows that all three ITI protocols dominate the on-demand regimen with rFVIIa. Between the ITI protocols the low-dose ITI protocol dominates both the Bonn ITI protocol and the Malmö ITI protocol and would be the preferred ITI protocol. All of the three ITI protocols dominate the on-demand strategy, as they have both a lower average lifetime cost and higher quality-adjusted life-years (QALYs) gained. The cost per QALY gained for the Bonn ITI protocol compared with the Malmö ITI protocol was $249,391.84. The cost per QALY gained for the Bonn ITI protocol compared with the low-dose ITI protocol was $842,307.69.
The results of data derived from our study suggest that the low-dose ITI protocol may be a less expensive and/or more cost-effective option compared with on-demand first-line treatment with rFVIIa.
cost-utility analysis; immune tolerance induction; on-demand; rFVIIa
Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphyseal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease.
The present report describes, for the first time, a Schimke immuno-osseous dysplasia child with SMARCAL1 missense mutation (R561H) and manifestations of intussusception secondary to Epstein-Barr virus-negative non-Hodgkin lymphoma, who expired due to septicemia following chemotherapy. The report emphasizes the necessity of more limited immunosuppressive protocols in Schimke immuno-osseous dysplasia patients with lymphoproliferative disorders.
Schimke immunoosseous dysplasia; lymphoproliferative; intussusception