金奈居民地中海贫血患者遗传性血色素沉着症基因突变频率及其对铁超载的影响

IF 0.7 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Bhuvana Selvaraj, S. Soundararajan, Shettu Narayanasamy, Ganesan Subramanian, Senthil Kumar Ramanathan
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引用次数: 1

摘要

遗传性血色素沉着症(HH)是一种与HFE基因突变相关的常染色体隐性铁代谢疾病,其特征是铁吸收和积累增加,导致铁过载毒性引起多器官损伤。地中海贫血是由人类-珠蛋白基因突变引起的。不平衡的珠蛋白链产生导致-地中海贫血,其中不配对的α链沉淀在红细胞前体中,导致红细胞生成无效和红细胞存活率降低。HH和β地中海贫血都会导致铁的快速积累,导致组织和器官中的铁超载。该研究旨在分析-地中海贫血病例中HFE变异的频率及其对铁超载的影响。采用PCR RFLP方法分析β地中海贫血性状(BTT) (n = 203)、β地中海贫血重度(BTM) (n = 19)和年龄、性别匹配对照(n = 200)中3种HFE变异C282Y、H63D、S65C的频率。BTT、BTM和对照中H63D变异的等位基因频率分别为8.13%、15.8%和6%。33个杂合H63D变异体中有10个表现出铁超载,铁蛋白水平较高,表明HFE变异体可能加剧铁的吸收。β -地中海贫血携带者中有1例C282Y变异呈杂合状态。BTM和对照病例中不存在C282Y变异。本研究中未发现S65C HFE变异。在所有三种HFE基因型的对照病例中,铁过载完全不存在。因此,从本研究推断,分析HFE基因和铁状态将显著有助于找出铁状态背后的可能原因,并支持对-地中海贫血病例的适当管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Frequency of hereditary hemochromatosis gene mutations and their effects on iron overload among beta thalassemia patients of Chennai residents
Hereditary Hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism associated with HFE gene mutations, characterized by increased iron absorption and accumulation leading to multi-organ damage caused by iron overload toxicity. Beta thalassemia is caused by a mutation in the human beta globin gene. Imbalanced production of globin chain results in beta thalassemia, where the unpaired alpha chains precipitates in red cell precursors leading to ineffective erythropoiesis and reduced RBC survival. Both HH and beta thalassemia condition results in rapid accumulation of iron lead to iron overload in tissues and organs. The study aims to analyze the frequency of HFE variants among beta thalassemia cases and their effect on iron overload. The frequency of three HFE variants C282Y, H63D, S65C was analyzed by PCR RFLP method among Beta Thalassemia Trait (BTT) (n = 203), Beta Thalassemia Major (BTM) (n = 19) and age and sex-matched control samples (n = 200). The present study furnished allele frequency of H63D variant in BTT, BTM and controls 8.13, 15.8 and 6% respectively. Ten out of 33 heterozygous H63D variants exhibited iron overload with higher ferritin levels indicating HFE variant might aggravate the absorption of iron. The C282Y variant was present in heterozygous state in 1 case among beta thalassemia carriers. The C282Y variant was absent among BTM and control cases. S65C HFE variant was absent in the present study. Iron overload was completely absent in the control cases among all three HFE genotypes. Hence it is inferred from the present investigation, analysis of HFE genes and iron status will remarkably help to reason out the probable reason behind the iron status and support in proper management of beta thalassemia cases.
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AIMS Molecular Science
AIMS Molecular Science BIOCHEMISTRY & MOLECULAR BIOLOGY-
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