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ABSTRACT INTRODUCTION: Iron overload is the most important complication in patients with thalassemia major. This study was aimed to identify the effects of a standard exercise on body iron indices in the patients with thalassemia major and in normal subjects in Sanandaj during 1999. MATERIALS & METHODS: This was a quasi-experimental study. The subjects were 32 patients with thalassemia major and 30 normal persons. The range of age in the both groups was 8-20 years. They were exercised by treadmill. Blood samples were obtained before exercise, immediatly after and 48 hours following the exercise. Then, serum iron, ferritin and TIBC were measured in all samples. RESULTS: In both groups, the body iron indices showed significant changes in both samples following exercise as comparing to pre-exercise values. These changes were identical in both sex. In both groups, serum iron and ferritin decreased and serum TIBC increased immediatly following aerobic exercise. However, all of them significanlty increased 48 hours after exercise as comparing to pre-exercise valuses. CONCLUSIONS: Regarding our study, regular exercise may be useful in the patients with thalassemia major if further studies confirm the effects of exercise (particularly in multiple courses) in decreasing iron overload. Further evaluation about iron deficiency anemia in athletes (specialy in heavy sports) is also recommended.

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Background and Aim: Trace elements have been considered to play critical roles in bone metabolism. The aim of this study was to determine serum zinc profile and its association with bone mineral density (BMD) abnormalities in thalassemic patients. Materials and Methods: Serum zinc levels of 131 transfusion-dependent β-thalassemic patients, between 10-20 years of age, were measured by flame-atomic absorption spectrophotometry (F-AAS). BMD values at lumbar (L1-L4) and femoral neck were determined by dual x-ray absorptiometry (DXA). Daily dietary zinc and calcium intake were evaluated by food frequency questionnaires. Patients’ history of treatment and demographic data were obtained. Results: Low serum zinc was present in 84.8% of the patients and severely low levels detected in 44.7%. In 68.7% and 17.6% of the patients BMD z-scores less than (-2) were observed at lumbar and femoral regions. Female patients with severe zinc deficiency had lower lumbar BMD z-scores (-3.26) in comparison to other females (-2.54). Serum zinc levels of female patients with femoral BMD z-scores less than (-2), were significantly lower than those of other females. Conclusion: Considering low serum zinc level and decreased daily zinc intake, proper nutrition of thalassemic patients showld be regarded important

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  ABSTRACT

  Background and Aim: Impaired glucose tolerance (IGT) and diabetes mellitus (DM) are well known complications in multitransfused beta thalassemia patients. Iron overload and chronic liver disease, viral infection and/or genetic factors may play important roles in the development of glucose intolerance. The aim of the present study is to determine the prevalence of hepatitis C and its relation with diabetes and impaired glucose tolerance.

  Material and Methods: The study included 195 multitransfused β thalassemic patients, 97 females and 98 males with a mean age of 14.9±6.07 years (range 5-36 years). Diagnosis of DM and IGT was based on the criteria of ADA and WHO. Hepatitis markers were detected by use of ELISA test. Results were analyzed by means of Chi-square test.

  Results: The results of ELISA test revealed forty (20.51%) patients were seropositive for HCV. After removal of confounding factors, serum ferritin level (p=0.039) and hepatitis C infection (p=0.006) were identified as independent risk factors, having significant relationship with abnormal glucose tolerance.

  Conclusion: With increasing age the number of blood transfusions increases and subsequently the possibility of iron overload and infection with hepatitis C virus increases. In our study the prevalence of diabetes in adult thalassemic patients suffering from HCV infection increased. It is probable that hemosiderosis makes the effect of HCV infection on glucose metabolism more evident clinically. Aggressive iron chelating therapy as well as prevention and treatment of hepatitis C infection are the most important measures in glucose homeostasis in transfusion dependent beta thalassemic patient.

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  ABSTRACT

  Background and Aim: β -thalassemia is the most common autosomal recessive disorder. More than 200 different mutations in the β-globin gene have been detected which can lead to decreased or absent β -globin chain synthesis . Since the Iranian population is a mixture of different ethnic groups, it is necessary to determine the frequency and distribution of these mutations in the different ethnic groups of our country. Therefore, in this study we determined the spectrum and the frequency of β-thalassemia mutations in the patients with β-thalassemia major in the Kurd population of Kurdistan and West Azerbaijan provinces of Iran.

  Material and Methods: To detect mutations, extracted DNA of 110 chromosomes from 55 unrelated patients, were studied by PCR-ARMS (Polymerase Chain Reaction-Amplification Refractory Mutation System), SSCP (Single Strand Conformation Polymorphism) and direct sequencing methods.

  Results: The results of this study showed that IVS-II-1 ¨ (G→A) was the most common mutation with a frequency of 31% FSC * 8/9(+G) with a frequency of 19% was the second most prevalent mutation among all chromosomes. Other mutations were IVS-I-1(G→A), FSC8 (-AA), IVS-I-110(G→A), FSC36/37(-T), IVS-I-5(G→C), IVS-I-128(T→G), FSC44 (-C), FSC 5(-CT) and +22UTR · (G→A). These mutations comprised 79 % of β -thalassemia mutations in this region and 21% of the mutations still remains to be explored.

  Conclusion: The results of this study showed that, there are similarities and differences between this region and other parts of Iran and also neighboring countries. Therefore, determination of β-thalassemia mutations in this region seems to be necessary and beneficial for designing prenatal diagnosis programs.

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  ¨ . Intervening Sequence-II-nucleotide 1

  * . Frame Shift Codon

  · . Untranslated Region

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Background and Aim: The thalassemia is belived to be the most prevalent of all human genetic diseases and caused by mutations of the synthesis of hemoglobin.Regular blood transfusions are necessary in major thalassemia patients. The combination of transfusion and chelation therpy has dramatically extended the life expectancy of thalassemic patients but an important complication is iron overload in different organs of the body. Despite improved hematologic care in recent years, in these patients primary hypothyroidism and other endocrine disorders due to iron overload are still common complication and affect the patient's quality of life. The aim of this study was to identify the prevalence of thyroid dysfunction and to determine its correlation with ferritin plasma level, amount of blood transfused and liver function in thalassemic patients. Material and Methods: In this cross sectional study, fourty patients with beta thalassemia (20 males and 20 females mean age, 12.7 ± 5.8 yrs) were evaluated. Serum ferritin levels, SGOT, SGPT were evaluated by ELISA method and TSH were evaluated byIRMA. Hypothyroid index was defined according to the criteria of Kronberg et al. Results: Normal thyroid hormone values were found in 34 patients (85%) and 6 (15%) had subclinical hypothyroidism. Mean ferritin levels in hypothyroid and normal patients were2220 ± 1056 mg/l and 2028 ± 1548 mg/l respectively, (p= 0.2). Thyroid dysfunction could not be correlated with amount of blood transfused, liver function or ferritin plasma level. Conclusions: The high rate of thyroid dysfunction may be the result of poor disease control and manegment in early life when irreversible tissue damage ocuures due to iron overload and chronic hypoxia, and indicates the importance of regular follow-up of beta thalassemia patients for early detection and manegment of associated complications. Key words: Thalassemia, Thyroid function, serum ferrin Conflict of Interest: Nill Received: December 5, 2008 Accepted: January 27, 2009

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ABSTRACT Background and Aim: Regular blood transfusions in beta thalassemic patients can lead to accumulation of extra iron in the body which may result in cardiac complications and death. Deferrioxamin (DFO) is the standard treatment for this condition but 12-8 hours subcutaneous (SQ) injection of this drug per day can cause local pain which together with lack of patients´ compliance, it is necessary to use another drug to improve the condition of the patients. Deferiprone (DFP), is an approved drug for this purpose and removes iron from cells including cardiac muscle cells. The aim of this study is to compare efficacy of deferrioxamin with that of combined deferiprone and deferrioxamin on echocardiographic indices in beta thalassemic patients. Material and Methods: In this randomized clinical trial 40 thalassemic patients who met the inclusion criteria of this study were divided into two equal groups. Controls group received SQ deferrioxamin for six days/week and intervention group received deferrioxamin for three days/week and deferiprone orally for four days/week. Cardiac indices were measured and compared before and after the study. Results: Mean values of the age of the patients were 15.65.1 and 14.16 years in the intervention and control group respectively. Right ventricle diameter (RVD) indices in control group was 18.77.6 and 20.86.6 mm before and after treatment respectively (P<0.05). In the intervention group RVD indices were 19.55.8 and 18.0 4.7 mm before and after treatment respectively (P>0.05). Other indices such as LVEDD, LVESD, aortic root diameter, EF and Fs of left ventricle and also indices of the heart valves revealed no significant differences between the two groups. We didn’t observe any side effect of the drugs in the patients. Conclusion: We concluded combined therapy with 4 days DFP and 3 days DFO per week did not lead to cardiac complications and deterioration of echocardiographic indices. Key words: Major thalassemia, Deferrioxamin, Deferiprone, Echocardiographic indices. Conflict of Interest: Nill Received: May 25, 2009 Accepted: August 11, 2009

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ABSTRACT Background and Aim: Thalassemia is one of the most prevalent heamoglobinopathies in the world in particular in Iran. Major thalassemia patients need blood transfusion and desferrioxamin injections throughout their life. Regarding improved life quality of thalassemic patients, new clinical problems, such as hearing loss, need more attention. This study was done to determine the frequency of hearing loss and otolaryngeal disorders together with their related factors in major beta thalassemic patients. Material and Methods: This was a descriptive analytic study and 84 beta thalassemia patients were examined and evaluated for hearing loss by an otolaryngologist. Standard pure tone audiometry was performed for the patients. Serum ferritin level was measured. Considering blood transfusion the patients were divided into two groups: those with suitable transfusions and those with unsuitable transfusions. Also in regard to desferrioxamin injections again the patients were divided into two groups: those with regular injections and those with irregular injections. Results: Among 84 beta thalassemic patients (40 M, 44 F) with mean age of 12.8±5.7 years, 10 (11.9%) had sensorineural hearing loss, 8 (9.5%) had conductive hearing loss, while 8 (9.5%) showed mixed hearing loss. There was no relationship between hearing loss and age, sex, ferritin level, but hearing loss had a significant relationship with doses and duration of desferrioxamine therapy (P<0.01). Also hearing loss had no significant relationship with regular and irregular blood transfusions and desferrioxamine injections (P<0.01). Conclusion: The results of this study implicated that high dose desferrioxamine was the main factor in the pathogenesis of ototoxicity in thalassemic patients. For management of these patients it is necessary to use proper doses of desferoxamine. Also blood transfusions should be proportional to body iron burden and hemoglobin. In addition, regular periodic otolaryngologic and audiometric follow up examinations are required for early diagnosis of hearing disorders in prevention of permanent hearing loss. Key words: Thalassemia, Ferritin, Desferrioxamine, Audiomety, Hearing loss Conflict of Interest: Nill Received: November 24, 2009 Accepted: December 3, 2009

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ABSTRACT Background and Aim: β-thalassemia (β-thal) is one of the most prevalent hereditary diseases in Iran. There are more than two million carriers of β-thal in Iran. Detection of the beta globin gene mutations is necessary for a definitive diagnostic and management plan such as prenatal diagnosis of β-thalassemia. In our country, the PCR-Amplification Refractory Mutation System (PCR-ARMS) has been frequently used for detection of beta globin gene mutations. Material and Methods: Here, we used the PCR-single strand conformation polymorphism (PCR-SSCP) assay for detection of mutations of beta globin gene. In the patients with confirmed mutations, we amplified 281base pairs containing exon of one of a beta globin gene by PCR. Based on SSCP technique 2.5 µl of the reaction products appeared in polyacryamide gel electrophoresis and the bands were visualized by silver staining. Seven mutations and one polymorphism were evaluated by PCR-SSCP assay. Results: The results of this study demonstrated that the patterns of mobility of single strands were different from each other and those of control sample. Conclusion: Our study showed the PCR-SSCP technique can meet the need for direct genomic sequencing of DNA and could be applied in the developing countries where financial resources are limited but genetic hemoglobin disorders are highly prevalent. Key words: Thalassemia, SSCP, β- globin gene. Conflict of Interest: Nill Received: June 12, 2010 Accepted: Nov 11, 2010

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ABSTRACT Background and Aim: HTLV-I is the etiological cause of adult T-lymphocytic leukemia (ATL) and a chronic degenerative neurologic disorder, called tropical spastic paraparesis (TSP). HTLV infection can be transmitted through different ways: from mother to child or fetus, sexual intercourse, transfusion of contaminated blood or blood products, and sharing contaminated syringe needles. As the presence of these infections in high risk groups can be an approximate indicator of their prevalence in the society and blood donors, in this study was tried to find prevalence of HTLV in HIV positive or negative intravenous drug users (IVDU patients with major thalassemia, and hemodialysis patients, in Sanandaj. Materials and Methods: This descriptive study included 351 cases: 130 HIV positive and 110 HIV negative intravenous drug users (IVDU), 46 cases of major thalassemia, and 65 hemodialysis patients. All participants completed written informed consent forms. After obtaining blood samples and serum separation, all specimens were kept in freezer at -20oC up to the time of analysis. Serum samples were screened for measurement of the titers of HTLV I&II antibodies by Dia-Pro ELISA kits, manufactured in Italy. Positive and suspicious reactions were reanalyzed. For confirmation of positive and suspicious reactions, samples with one positive reaction were examined by use of western blot kid (HTLV blot 2.4, manufactured by MP Diagnostics in Switzerland). Data were entered into SPSS 16 software and the prevalence rates of these viruses were obtained by using frequency distribution table. Results: The results of this study showed that one HIV positive, one HIV negative patient and another patient with major thalassemia were HTLV I positive (0.85%). None of the hemodialysis patients had antibody against HTLV type 1. We did not find any antibody against HTLV type 2 in our study. Conclusions: The prevalence rate of HTLV (types 1 and 2) among these high risk groups was not high in Sanandaj. This may reflect its low prevalence in general population and in blood donors. However, it is necessary to take preventive measures to reduce its spread. To assess the exact prevalence rate we recommend screening of all donated blood samples and general population. Conflict of Interest: Nil Received: May 24, 2012 Accepted: Oct 11, 2012

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Background and Aim: Alpha Thalassemia is an autosomal recessive genetic disease by reduced or absent synthesis of alpha globin polypeptide chains. One of the severe forms of disease with 3 alpha globin genes inactivation is H disease. In this study genotype of H disease was assessed in some patients with blood abnormalities referred to hospitals of Kermanshah and Kurdistan provinces. Materials and method: In this descriptive research, 110 patients with microcytic and hypochromic anemia were recruited. Based on CBC and hemoglobin electro‌phoresis tests in patients before blood transfusion or their parents, alpha thalassemia was diagnosed. DNA was extracted by salting out method. The common deletions, alpha globin point mutations and direct sequencing were investigated using multiplex PCR and Sanger methods respectively. Results: In twelve alpha thalassemia patients, it has been shown the deletion mutations of --Med in 5 patients (20.8%), -α3.7 in 4 patients (6.6%) and -α20.5 in 3 patients (12.5%) and also point mutations polyA1 in 3 patients (12.5%),-αcd59 in 2 patients (8.3%) and -αIVSI (-5nt) in 2 patients (8.3%). In 4 cases deletion (-α/--) and in 3 cases (40%) non-deletion H disease (--/ααT) were diagnosed. Two cases showed point mutation of ααT/ααT. Two patients were blood-transfusion dependent. The first one who received regu‌lar blood monthly, showed --Med/αcd59 genotype. The second one with -α20.5/-α3.7 genotype received blood occasionally. In 7 patient’s enlargement of spleen was observed and in 3 patients splenectomy was performed earlier. Conclusion: The results showed the genetic diversity in alpha-globin and the importance of point mutations in the H disease. However, further study should be done to determine the accurate genotype and phenotype relationship and to diagnose of H disease in prenatal cases. Keywords: Alpha Thalassemia, H disease, Kurdistan, Kermanshah. Received: Jul 16, 2014 Accepted: Feb 7, 2015

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Background and Aim: Beta-thalassemia is a common autosomal recessive disorder of hemoglobin synthesis. About 200 mutations of beta globin genes have been detected .This study was performed to determine beta globin gene mutations in blood transfusion dependent pa­tients in Kurdistan Province hospitals from June 2012 to April 2014 .

Material and Methods: This descriptive study included sixthy eight blood transfusion dependent pa­tients with beta- thalassemia major who had referred to Kurdistan Province hospital.Patients and their parents completed our  questionnaires. Based on CBC and hemoglobin electro­phoresis results diagnosis of beta thalassemia was made. 5 ml blood was obtained from every participant and DNA was extracted by using standard salting out method. Then we investigated beta globin gene mutations by ARMS-PCR  method and DNA sequencing.

Results: The most prevalent mutations were IVS-II-1 in 30 allels (22.5%), Fr8-9(+G) in 22 allels (15.94%), IVS-I-1 in 13 allels (9.42%) and C36/37 in 11 allels (7.97%). Among 138 allels, types of mutations in 42 allels of assessed 138 allels remained unknown.

Conclusion: The results of this study were compatible with those of another study performed in Sanandaj in 2003, but in our study, mutation of C36/37 was more prevalent.

Keywords: Beta thalassemia, ARMS-PCR, Kurdistan

 

Received: Sep 28, 2014      Accepted: Jul 6, 2015

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Background and Aim: Hypothyroidism is one of the most common endocrine complications in the patients with Beta thalassemia major. A simple review of the studies shows different prevalence rates of hypothyroidism in the patients with Beta thalassemia major in Iran. This meta-analysis study was performed to evaluate the prevalence of hypothyroidism in the patients with Beta thalassemia major in Iran.

Material and Methods: Using standard key words, we obtained the data from Magiran, Iran medex, IranDoc, SID, Medlib databases and also international databases including Scopus, Web of Science, PubMed, ScienceDirect and Google Scholar without any time limit up to December 2015. Statistical analyses were performed using random effects model by Stata Ver.11.1.

Results: We evaluated 4851 patients who had participated in 27 eligible studies (23 articles and 4 thesis). Prevalence of hypothyroidism in the patients with thalassemia major in Iran was estimated as 5.7 %( 95% CI:, 4.7-6.8). The prevalence of the overt and subclinical hypothyroidism in the patients were 3.1 %( 95% CI:, 4.1-4.8) and 6.7 % (95% CI:, 3.3- 10), respectively. The highest prevalence of hypothyroidism belonged to the north of Iran (15%).

Conclusion: We found similar prevalence rates of hypothyroidism in Iran and other reports provided by scientific resources (5-7%). Therefore, we recommend annual performance of thyroid function tests for these patients.

Keywords: Prevalence, Hypothyroidism, Thalassemia major, Systematic review, Meta-analysis, Iran.

 

Received: Jul 20, 2015      Accepted: Dec 20, 2015

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Background and Aim: Beta thalassemia is one of the most common single gene disorders in the world which occurs due to a defect in the beta globin chain synthesis. In general, the majority of the patients with thalassemia, are suffering from decreased bone density. Osteoporosis is characterized by low bone mass and disorder of osteogenesis resulting in reduced bone strength. Considering the serious consequences of osteoporosis, this study was performed to evaluate the prevalence of osteoporosis in the patients with beta thalassemia major.

Materials and Methods: This study included 46 beta thalassemia patients above 5 years of age who had been admitted to the oncology ward of  Besat Hospital in Sanandaj. Chemical biomarkers were measured and the results of densitometry of the lumbar spine and femoral head were investigated for the presence of osteoporosis, osteopenia and normal findings. Using SPSS 20 software, we used one-way analysis of variance to assess the association between chemical biomarkers.

Results:  The mean (SD) age was 19.8 (7.7) years, 24 patients (52.2%) were women and 32 (69.6%) were above 15 years of age. In this study, the most frequent findings of densitometry were osteoporosis (34.8%) and normal lumbar spine (34.8%). Comparison between the chemical biomarkers and findings of the densitometry of the femoral head revealed different levels of ferritin in these patients (P = 0.011). This difference was observed in the patients who had osteoporosis and normal densitometry results (P = 0.009).

Conclusion: The results of this study showed no significant statistical relationship between chemical biomarkers and the densitometry results. Therefore, use of bisphosphonate is recommended for prevention of bone damage.

Keywords: Osteoporosis, Osteopenia, Thalassemia major, Biochemical marker, Densitometry, Sanandaj.

Received: Apr 25, 2015      Accepted: Aug 20, 2016

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Background and Aim: Serum ferritin in patients with thalassemia major is an indicator of iron overload, which is the main cause of damage to various organs of the body in patients with thalassemia major. The aim of this study was to investigate the relationship between serum ferritin level and renal function in thalassemia major patients.
Materials and Methods: This descriptive and cross-sectional study was performed on patients with thalassemia major in Kurdistan province (west region of Iran) in 2019. All patients with thalassemia major were evaluated in terms of having regular blood transfusions for at least 1 year. The obtained data were entered into SPSS 22 software and statistically analyzed after measuring serum ferritin, creatinine and calculating glomerular filtration rate (GFR).
Results: In this study, 122 patients were evaluated according to the inclusion and exclusion criteria. 54.1% were male and 45.9% were female. The mean age of patients was 20.28 ± 8.14 years, the mean hemoglobin was 8.95 ± 1.17gr/dl, the mean ferritin was 2812 ± 2134 ng/ml, the mean creatinine was 0.65 ± 0.17 mg/dl and the mean GFR (ml/min) was 122.19 ± 24.13. No significant correlation was found between GFR and serum ferritin (P> 0.05).
Conclusion: Due to the lack of correlation between serum ferritin and GFR, it can be concluded that iron overload has no role in possible glomerular damage in thalassemia major patients.

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Background and Aim: Patients with beta-thalassemia need frequent blood transfusions and bone disorders are common in these patients. The objective of this study was to evaluate bone mineral density (BMD) in these patients.
Material and Methods: In this cross-sectional study, seventy-nine patients, with intermediate and major thalassemia who had referred for bone mineral densitometry to Kowsar Hospital in Sanandaj in 2021, were assessed. The patients were divided into two groups: group A including 20 patients (9 males, 11 females) who were less than 20 years of age, and group B including 59 patients (32 males and 27 females) that were equal to or older than 20 years old. In both groups, bone mineral density (BMD) was measured by dual energy X-ray absorptiometry (DXA) method. Total body less head (TBLH) and lumbar spine BMDs were measured in group A. In group B, total hip, femoral neck and lumbar spine BMDs were measured.
Results: In 55.7 % of the patients, the Z-score was below the expected range for the age. Prevalence of the abnormal Z-score in the two groups showed no statistically significant difference (P value=0.942). Gender and history of fracture showed no statistically significant relationship with abnormal Z-score (P values 0.069 and 0.066, respectively).  The mean lumbar spine Z-score in group A was lower (-1.7±1.5) than that in group B (-1.6±1.2) but the difference was not statistically significant (P value= 0.639). The mean lumbar spine Z-score was lower than the mean Z-score of TBLH (0.7±1.7) in group-A patients. Likewise, in group B patients, the mean lumbar spine Z-score was lower than the mean Z-scores of total hip (-0.9±1.0) and femoral neck (-0.5±1.0).
Conclusions: Low bone mineral density was common in the thalassemia patients. Measurement of lumbar spine BMD was more reliable than TBLH, total hip and femoral neck BMDs for evaluation of bone mass in these patients.