α地中海贫血:临床表型的多样性及治疗进展

IF 0.6 Q4 HEMATOLOGY Thalassemia Reports Pub Date : 2022-11-22 DOI:10.3390/thalassrep12040020
D. Songdej, S. Fucharoen
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引用次数: 2

摘要

全世界最常见的单基因疾病之一是α-地中海贫血,在所有热带和亚热带国家都发现了频率可变(>1%)的携带者。16号染色体上每个等位基因上的两个连锁的α-珠蛋白基因调节α-珠链的产生。一个或多个α-珠蛋白基因的缺失是α-地中海贫血中最常见的分子缺陷,而非缺失突变也会发生,导致α-珠链不稳定。HbH是临床上最常见的重要α-地中海贫血疾病,当三个α-珠蛋白基因缺失/突变,只留下一个完整的基因拷贝时就会发生。HbH可分为缺失型(-/-α)和非缺失型(--/αTα)。前者的临床表型通常为轻度至中度,后者的临床表型可能多种多样。由于HbH疾病在东南亚和地中海地区的一些地区特别流行,β-地中海贫血也很流行,因此受影响的患者有时治疗不足。因此,血液学家和普通医生需要接受教育,以提供最佳的疾病监测和早期识别那些具有更严重表型的人。关于输血和铁螯合处理的一些问题与β地中海贫血的问题不同,这些问题需要认识到。Hb-Bart's胎儿水肿综合征(BHFS)是最严重的α-地中海贫血;受影响的患者缺乏α-珠蛋白链的产生。胎儿医学和新生儿重症监护的最新进展使BHFS不再是一种普遍致命的疾病。罕见幸存者的输血和螯合策略是不同的,需要更新。
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Alpha-Thalassemia: Diversity of Clinical Phenotypes and Update on the Treatment
One of the more common single-gene disorders worldwide is α-thalassemia, carriers of which are found at variable frequencies (>1%) across all tropical and subtropical countries. Two linked α-globin genes on each allele of chromosome 16 regulate α-globin chain production. Deletion of one or more α-globin genes is the most frequent molecular defect found in α-thalassemia, whereas non-deletional mutations also occur, leading to unstable α-globin chains. HbH is the most common clinically important α-thalassemia disease and occurs when three α-globin genes are deleted/mutated, leaving only one copy of the gene intact. HbH can be divided into deletional (--/-α) and non-deletional genotypes (--/αTα). Whereas clinical phenotypes of the former are usually homogenously mild to moderate, those of the latter can be diverse. As HbH disease is particularly prevalent in Southeast Asia and some parts of the Mediterranean region, where β-thalassemia is also prevalent, affected patients are sometimes left undertreated. Therefore, hematologists and general physicians need to be educated to provide optimal disease monitoring and early identification of those with more severe phenotypes. Some issues regarding transfusion and iron chelation management differ from those of β-thalassemia, and these need to be recognized. Hb Bart’s hydrops fetalis syndrome (BHFS) is the most severe form of α-thalassemia; affected patients lack production of α-globin chains. Recent advances in fetal medicine and neonatal intensive care have made it possible for BHFS to no longer constitute a universally fatal disorder. Transfusion and chelation strategies for rare survivors are distinct and require updating.
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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
期刊最新文献
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