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血红蛋白 E 地中海贫血症。

The hemoglobin E thalassemias.

机构信息

Thalassemia Research Centre, Institute of Science and Technology for Research and Development, Mahidol University, Bangkok, Thailand.

出版信息

Cold Spring Harb Perspect Med. 2012 Aug 1;2(8):a011734. doi: 10.1101/cshperspect.a011734.

DOI:10.1101/cshperspect.a011734
PMID:22908199
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3405827/
Abstract

Hemoglobin E (HbE) is an extremely common structural hemoglobin variant that occurs at high frequencies throughout many Asian countries. It is a β-hemoglobin variant, which is produced at a slightly reduced rate and hence has the phenotype of a mild form of β thalassemia. Its interactions with different forms of α thalassemia result in a wide variety of clinical disorders, whereas its coinheritance with β thalassemia, a condition called hemoglobin E β thalassemia, is by far the most common severe form of β thalassemia in Asia and, globally, comprises approximately 50% of the clinically severe β-thalassemia disorders.

摘要

血红蛋白 E(HbE)是一种极其常见的结构血红蛋白变异体,在许多亚洲国家的高频出现。它是一种β-血红蛋白变异体,产生速度略低,因此表现为β地中海贫血的轻度形式。它与不同形式的α地中海贫血相互作用,导致各种临床疾病,而与β地中海贫血的共遗传,即血红蛋白 E β地中海贫血,是迄今为止亚洲最常见的严重β地中海贫血形式,在全球范围内,约占临床严重β-地中海贫血疾病的 50%。

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本文引用的文献

1
Management of the thalassemias.地中海贫血症的治疗管理。
Cold Spring Harb Perspect Med. 2013 Jun 1;3(6):a011767. doi: 10.1101/cshperspect.a011767.
2
The molecular basis of β-thalassemia.β-地中海贫血的分子基础。
Cold Spring Harb Perspect Med. 2013 May 1;3(5):a011700. doi: 10.1101/cshperspect.a011700.
3
Clinical manifestations of α-thalassemia.α-地中海贫血的临床表现。
Cold Spring Harb Perspect Med. 2013 May 1;3(5):a011742. doi: 10.1101/cshperspect.a011742.
4
The molecular basis of α-thalassemia.α-地中海贫血的分子基础。
Cold Spring Harb Perspect Med. 2013 Jan 1;3(1):a011718. doi: 10.1101/cshperspect.a011718.
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Pathophysiology and Clinical Manifestations of the β-Thalassemias.β-地中海贫血的病理生理学和临床表现。
Cold Spring Harb Perspect Med. 2012 Dec 1;2(12):a011726. doi: 10.1101/cshperspect.a011726.
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The switch from fetal to adult hemoglobin.从胎儿血红蛋白向成人血红蛋白的转变。
Cold Spring Harb Perspect Med. 2013 Jan 1;3(1):a011643. doi: 10.1101/cshperspect.a011643.
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World distribution, population genetics, and health burden of the hemoglobinopathies.血红蛋白病的世界分布、人口遗传学和健康负担。
Cold Spring Harb Perspect Med. 2012 Sep 1;2(9):a011692. doi: 10.1101/cshperspect.a011692.
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β-thalassemia intermedia: a clinical perspective.中间型β-地中海贫血:临床视角。
Cold Spring Harb Perspect Med. 2012 Jul;2(7):a013482. doi: 10.1101/cshperspect.a013482.
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Br J Haematol. 2011 Sep;154(5):635-43. doi: 10.1111/j.1365-2141.2011.08770.x. Epub 2011 Jul 7.
10
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia.基因治疗人类β-地中海贫血后实现输血独立性和 HMGA2 激活。
Nature. 2010 Sep 16;467(7313):318-22. doi: 10.1038/nature09328.