• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

埃及β地中海贫血患者遗传性血色素沉着症（HFE）基因突变频率及其与铁过载的关系。

Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload.

作者信息

Enein Azza Aboul, El Dessouky Nermine A, Mohamed Khalda S, Botros Shahira K A, Abd El Gawad Mona F, Hamdy Mona, Dyaa Nehal

机构信息

Clinical Pathology Department, Kasr El Ainy Medical School, Cairo, Egypt.

National Research Center, Cairo, Egypt.

出版信息

Open Access Maced J Med Sci. 2016 Jun 15;4(2):226-31. doi: 10.3889/oamjms.2016.055. Epub 2016 Jun 1.

DOI:10.3889/oamjms.2016.055
PMID:27335591
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4908736/
Abstract

AIM

This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status.

SUBJECTS AND METHODS

The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing.

RESULTS

Neither homozygote nor carrier status for the C282Y or S65C alleles was found. The H63D heterozygous state was detected in 5/50 (10%) thalassemic patients and in 1/30 (3.3%) controls with no statistically significant difference between patients and control groups (p = 0.22). Significantly higher levels of the serum ferritin and serum iron in patients with this mutation (p = 001).

CONCLUSION

Our results suggest that there is an association between H63D mutation and the severity of iron overload in thalassemic patients.

摘要

目的

本研究旨在检测埃及重型β地中海贫血患者中最常见的HFE基因突变（C282Y、H63D和S56C）及其与铁状态的关系。

对象与方法

本研究纳入50例重型β地中海贫血患者和30例年龄及性别匹配的健康人作为对照组。检测血清铁蛋白、血清铁和总铁结合力水平。通过聚合酶链反应-限制性片段长度多态性分析检测三种HFE基因突变（C282Y、H63D和S65C）。对突变阳性病例通过测序进行确认。

结果

未发现C282Y或S65C等位基因的纯合子或携带者状态。在5/50（10%）的地中海贫血患者和1/30（3.3%）的对照组中检测到H63D杂合状态，患者组和对照组之间无统计学显著差异（p = 0.22）。该突变患者的血清铁蛋白和血清铁水平显著更高（p = 0.01）。

结论

我们的结果表明，H63D突变与地中海贫血患者铁过载的严重程度之间存在关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31cc/4908736/6e7746c1ec01/OAMJMS-4-226-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31cc/4908736/fcae4740ae0e/OAMJMS-4-226-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31cc/4908736/6e7746c1ec01/OAMJMS-4-226-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31cc/4908736/fcae4740ae0e/OAMJMS-4-226-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31cc/4908736/6e7746c1ec01/OAMJMS-4-226-g002.jpg

相似文献

1
Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload.埃及β地中海贫血患者遗传性血色素沉着症（HFE）基因突变频率及其与铁过载的关系。
Open Access Maced J Med Sci. 2016 Jun 15;4(2):226-31. doi: 10.3889/oamjms.2016.055. Epub 2016 Jun 1.
2
Investigation of correlation between H63D and C282Y mutations in HFE gene and serum Ferritin level in beta-thalassemia major patients.重型β地中海贫血患者HFE基因H63D和C282Y突变与血清铁蛋白水平的相关性研究。
Transfus Clin Biol. 2019 Nov;26(4):249-252. doi: 10.1016/j.tracli.2019.05.003. Epub 2019 May 29.
3
Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.巴基斯坦重型β地中海贫血患者遗传性血色素沉着症（HFE）基因突变（H63D和C282Y）频率与铁过载的关联
Saudi Med J. 2019 Sep;40(9):887-892. doi: 10.15537/smj.2019.9.24482.
4
Frequency of Hereditary Hemochromatosis Gene Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level.斯里兰卡依赖输血的β地中海贫血患者遗传性血色素沉着症基因变异的频率及其与血清铁蛋白水平的关联。
Front Pediatr. 2022 Jul 12;10:890989. doi: 10.3389/fped.2022.890989. eCollection 2022.
5
[Mutations in the HFE gene (C282Y, H63D, S65C) in alcoholic patients with finding of iron overload].酒精性患者出现铁过载时HFE基因（C282Y、H63D、S65C）的突变情况
Rev Clin Esp. 2002 Oct;202(10):534-9. doi: 10.1016/s0014-2565(02)71137-5.
6
The role of HFE mutations on iron metabolism in beta-thalassemia carriers.HFE 突变在β地中海贫血携带者铁代谢中的作用。
J Hum Genet. 2004;49(12):651-655. doi: 10.1007/s10038-004-0202-z. Epub 2004 Nov 5.
7
The influence of hemochromatosis mutations on iron overload of thalassemia major.血色素沉着症突变对重型地中海贫血铁过载的影响。
Haematologica. 1999 Sep;84(9):799-803.
8
Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait.印度北部HFE基因H63D突变的患病率：其存在不会导致β地中海贫血特征性铁过载。
Eur J Haematol. 2005 Apr;74(4):333-6. doi: 10.1111/j.1600-0609.2004.00390.x.
9
Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.在立陶宛人群中，遗传性 HFE 血色病基因 C282Y、H63D 和 S65C 突变的流行情况。
Ann Hematol. 2012 Apr;91(4):491-5. doi: 10.1007/s00277-011-1338-5. Epub 2011 Sep 27.
10
Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.携带HFE S65C基因突变患者的轻度铁过载：一项针对疑似铁过载患者和健康对照者的回顾性研究
Gut. 2002 Nov;51(5):723-30. doi: 10.1136/gut.51.5.723.

引用本文的文献

1
Frequency of Hereditary Hemochromatosis Gene Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level.斯里兰卡依赖输血的β地中海贫血患者遗传性血色素沉着症基因变异的频率及其与血清铁蛋白水平的关联。
Front Pediatr. 2022 Jul 12;10:890989. doi: 10.3389/fped.2022.890989. eCollection 2022.
2
Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.评估一组依赖输血的β地中海贫血的斯里兰卡患者的铁过载情况及其与 HBB、HFE、SLC40A1 和 TFR2 基因中的致病性变异的相关性。
BMC Pediatr. 2022 Jun 15;22(1):344. doi: 10.1186/s12887-022-03191-8.
3

本文引用的文献

1
H63D mutation in HFE gene is common in Indians and is associated with the European haplotype.HFE基因中的H63D突变在印度人中很常见，且与欧洲单倍型相关。
J Genet. 2012 Aug;91(2):229-32. doi: 10.1007/s12041-012-0163-5.
2
Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a Group of Iranian Patients With Cryptogenic Cirrhosis.一组伊朗隐源性肝硬化患者中两种常见HFE基因突变（C282Y和H63D）的频率
Hepat Mon. 2011 Nov;11(11):887-9. doi: 10.5812/kowsar.1735143x.781. Epub 2011 Nov 30.
3
Effect of co-inheritance of β-thalassemia and hemochromatosis mutations on iron overload.
Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis.
通过可扩展的联合地中海贫血和血色素沉着症突变分析实现常规β地中海贫血预防和患者管理。
BMC Med Genet. 2020 May 15;21(1):108. doi: 10.1186/s12881-020-01017-x.
4
Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.巴基斯坦重型β地中海贫血患者遗传性血色素沉着症（HFE）基因突变（H63D和C282Y）频率与铁过载的关联
Saudi Med J. 2019 Sep;40(9):887-892. doi: 10.15537/smj.2019.9.24482.
5
Hepcidin and Polymorphisms and Ferritin Level in β-Thalassemia Major.重型β地中海贫血患者中的铁调素、多态性与铁蛋白水平
Int J Hematol Oncol Stem Cell Res. 2019 Jan 1;13(1):42-48.
6
The Correlation of Cardiac and Hepatic Hemosiderosis as Measured by T2*MRI Technique with Ferritin Levels and Hemochromatosis Gene Mutations in Iranian Patients with Beta Thalassemia Major.通过T2*MRI技术测量的伊朗重型β地中海贫血患者心脏和肝脏铁沉积与铁蛋白水平及血色素沉着症基因突变的相关性
Oman Med J. 2018 Jan;33(1):48-54. doi: 10.5001/omj.2018.09.
7
Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations.迟发性血色素沉着症：一个中国家庭中β地中海贫血与遗传性血色素沉着症的共同遗传：病例报告及不同人群的流行病学分析
Intern Med. 2018 Dec 1;57(23):3433-3438. doi: 10.2169/internalmedicine.8628-16. Epub 2017 Sep 25.
β地中海贫血与血色素沉着症突变共同遗传对铁过载的影响。
Hemoglobin. 2012;36(1):85-92. doi: 10.3109/03630269.2011.637148. Epub 2011 Nov 28.
4
Role of HFE gene mutations on developing iron overload in beta-thalassaemia carriers in Egypt.埃及β-地中海贫血携带者中铁过载发生中 HFE 基因突变的作用。
East Mediterr Health J. 2011 Jun;17(6):546-51.
5
Beta-thalassemia.β-地中海贫血。
Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11.
6
Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR.使用淬灭荧光共振能量转移实时聚合酶链反应同时检测血色素沉着症基因中的C282Y、H63D和S65C突变。
Braz J Med Biol Res. 2008 Oct;41(10):833-8. doi: 10.1590/s0100-879x2008001000001.
7
HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood transfusions.HFE基因H63D突变可预测中间型地中海贫血患者铁过载风险，与输血情况无关。
Indian J Pathol Microbiol. 2007 Jan;50(1):82-5.
8
[HFE gene mutations in Tunisian major beta-Thalassemia and iron overload].[突尼斯重型β地中海贫血与铁过载中的HFE基因突变]
Transfus Clin Biol. 2006 Dec;13(6):353-7. doi: 10.1016/j.tracli.2006.12.002. Epub 2007 Feb 15.
9
HFE gene mutations in Brazilian thalassemic patients.巴西地中海贫血患者的HFE基因突变
Braz J Med Biol Res. 2006 Dec;39(12):1575-80. doi: 10.1590/s0100-879x2006005000041.
10
Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait.印度北部HFE基因H63D突变的患病率：其存在不会导致β地中海贫血特征性铁过载。
Eur J Haematol. 2005 Apr;74(4):333-6. doi: 10.1111/j.1600-0609.2004.00390.x.