Frequency of C282Y and H63D Mutations of HFE Gene and Their Correlation with Iron Status in Iranian Beta-Thalassemia Major Patients
نویسندگان
چکیده مقاله:
Background: Co-inheritance of hemochromatosis (HFE) gene mutations may play an essential role in the pathogenesis of iron overload in beta-thalassemia major (BTM) patients. The present study aimed to investigate the prevalence of HFE C282Y and H63D mutations in BTM patients and their correlation with some demographic data and biochemical iron markers. Materials and Methods: The study population consisted of 65 BTM patients and 200 apparently healthy matched controls. The genotyping of HFE gene mutations were conducted by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism method. Plasma ferritin levels were determined by enzyme immunoassay. Plasma iron and transferrin levels were assessed by routine laboratory methods. Data analysis was performed using SPSS (version 22). Results: The carrier frequency of the H63D mutation was 20% with an allele prevalence of 12.31% in BTM patients, while in the control subjects these values were 21% and 11.75%, respectively (p>0.05 for both). The HFE C282Y gene mutation was not detected in BTM patients and only detected in the 1.5% of controls. The carriers of HFE H63D mutation had significantly higher plasma ferritin levels, iron levels and transferrin saturation levels than non-carriers (p=0.005, p=0.008, p=0.042, respectively). Moreover, no significant differences were observed regarding the mean volume of transfused blood and splenectomy rate between BTM patients with and without HFE H63D mutation. Conclusion: The present study demonstrated HFE H63D mutation as a significant contributing factor for iron overload in BTM patients. However, the genotype and allele distribution of HFE H63D and C282Y mutations didn’t differ significantly between the two groups.
منابع مشابه
Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a Group of Iranian Patients With Cryptogenic Cirrhosis
BACKGROUND The human HFE gene (a key component of iron homeostasis in humans) is involved in hereditary hemochromatosis, a common autosomal recessive genetic disorder that is characterized by excessive intestinal iron absorption and progressive iron overload. OBJECTIVES In this study, we assessed the frequency of two common forms of hemochromatosis HFE gene mutation (C282Y and H63D) in patien...
متن کاملfrequency of two common hfe gene mutations (c282y and h63d) in a group of iranian patients with cryptogenic cirrhosis
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author’s reply: hfe gene mutations (c282y and h63d) in a group of patients with cryptogenic cirrhosis
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Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina.
Genetic epidemiology studies of hereditary hemochromatosis (HHC) have shown a high prevalence of the C282Y mutation in individuals of the North Western European origin, whereas lower prevalence of HFE gene mutations was detected in the populations from southern European countries. However, no HFE mutation prevalence data have been provided for the population of Bosnia-Herzegovina so far. Theref...
متن کاملAuthor’s Reply: HFE Gene Mutations (C282Y and H63D) in a Group of Patients With Cryptogenic Cirrhosis
I would like to thank Dr Sendi and Mohseni for their interest in our study.In this letter the authors have summarized the contributory effects of hereditary hemochromatosis (HH) in liver diseases in different populations (1). I completely agree with them concerning the underlying causes of cryptogenic cirrhosis which in countries such as Iran is most commonly nonalcoholic steatohepatitis (NASH)...
متن کاملCytokine Gene Polymorphisms in Iranian Patients with Beta-Thalassemia Major
Background: β-thalassemia as a hereditary disease is defined as defective synthesis of β-globin chains, resulting in erythropoiesis abnormalities and severe anemia. Different studies have shown that cytokines and cytokine gene polymorphisms play a major role in the pathogenesis of β-thalassemia. Single nucleotide polymorphisms (SNPs) within the promoter region or other regulatory sequences ...
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عنوان ژورنال
دوره 7 شماره 3
صفحات 154- 162
تاریخ انتشار 2017-07
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