Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers

IF 0.6 Q4 HEMATOLOGY Thalassemia Reports Pub Date : 2023-03-17 DOI:10.3390/thalassrep13010010
María E. Mónaco, Natalia S. Alvarez Asensio, C. Haro, Magdalena M Terán, M. E. Ledesma Achem, B. Issé, S. Lazarte
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引用次数: 1

Abstract

The human hemochromatosis protein HFE is encoded by the HFE gene and participates in iron regulation. The aim of this study was to detect the most frequent HFE gene mutations in a control population and in β-thalassemia trait (BTT) carriers, and to study their relationship with iron metabolism. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2 quantification, iron (Fe), total Fe binding capacity and ferritin were assayed. HFE gene mutations were analyzed by real-time PCR. A total of 119 individuals (69 normal and 50 BTT) were examined. In the control group, 9% (6/69) presented a codon 282 heterozygous mutation (C282Y), and 19% a codon 63 mutation (H63D) (13/69, 11 heterozygotes and 2 homozygotes). In the BTT group, 3 carriers (6%) were heterozygous for C282Y, 14 (28%) for H63D, 1 (2%) for a codon 65 mutation and 1 (2%) was H63D and C282Y double heterozygous. Control group Fe metabolism did not show significant differences (p > 0.05) according to whether or not they carried an HFE gene mutation; while the BTT group with and without HFE mutation showed higher Fe and ferritin than the control group (p < 0.05). However, no increases in iron parameters were detected in BTT carriers that simultaneously exhibited an H63D mutation compared to BTT subjects without a mutation. Therefore, the iron metabolism alterations observed in BTT carriers could not be attributed to the presence of HFE gene mutations. It is likely that BTT individuals have other genetic modifiers that affect their iron balance.
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HFE基因突变对β地中海贫血携带者铁代谢的影响
人类血色素沉着症蛋白HFE由HFE基因编码,并参与铁调节。本研究的目的是检测对照人群和β地中海贫血(BTT)携带者中最常见的HFE基因突变,并研究它们与铁代谢的关系。测定全血细胞计数、碱性pH下血红蛋白电泳、HbA2定量、铁(Fe)、总铁结合能力和铁蛋白。通过实时PCR分析HFE基因突变。共检查了119名个体(69名正常人和50名BTT)。在对照组中,9%(6/69)出现密码子282杂合突变(C282Y),19%出现密码子63突变(H63D)(13/69,11个杂合子和2个纯合子)。在BTT组中,3名携带者(6%)为C282Y杂合子,14名携带者(28%)为H63D杂合子,1名携带者(2%)为密码子65突变,1名(2%)是H63D和C282Y双杂合子。对照组Fe代谢根据是否携带HFE基因突变没有显示出显著差异(p>0.05);而有和没有HFE突变的BTT组显示出比对照组更高的Fe和铁蛋白(p<0.05)。然而,与没有突变的BTT受试者相比,同时表现出H63D突变的BTT-携带者的铁参数没有增加。因此,在BTT携带者中观察到的铁代谢变化不能归因于HFE基因突变的存在。BTT个体可能有其他影响其铁平衡的基因修饰因子。
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来源期刊
Thalassemia Reports
Thalassemia Reports HEMATOLOGY-
自引率
0.00%
发文量
17
审稿时长
10 weeks
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