Suppr超能文献

[溶血性贫血的基因诊断]

[Gene diagnosis of hemolytic anemia].

作者信息

Miyazaki S

机构信息

Department of Pediatrics, Saga Medical School.

出版信息

Nihon Rinsho. 1996 Sep;54(9):2416-22.

PMID:8890572
Abstract

Gene analysis in hemolytic anemia has been reported recently. It is now recognized that inherited molecular defects of red blood cell membrane proteins have at least five phenotypes. The recent cloning of the G-6-PD gene has given us an entirely new perspective on the population genetics of G-6-PD deficiency and provided new and useful diagnostic tools. Prenatal diagnosis of thalassemia has been possible. Deficiency of the GPI anchor protein may be caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

摘要

最近已有关于溶血性贫血的基因分析报道。目前已认识到红细胞膜蛋白的遗传性分子缺陷至少有五种表型。最近G - 6 - PD基因的克隆为我们提供了关于G - 6 - PD缺乏症群体遗传学的全新视角,并提供了新的有用诊断工具。地中海贫血的产前诊断已成为可能。阵发性夜间血红蛋白尿中糖基磷脂酰肌醇(GPI)锚定蛋白的缺乏可能由PIG - A基因的体细胞突变引起。

相似文献

1
[Gene diagnosis of hemolytic anemia].
Nihon Rinsho. 1996 Sep;54(9):2416-22.
2
Hereditary disorders of the erythrocyte.
Clin Perinatol. 1976 Mar;3(1):161-75.
3
Red blood cell enzyme disorders: an overview.
Pediatr Ann. 2008 May;37(5):303-10. doi: 10.3928/00904481-20080501-08.
4
[Congenital hemolytic anemia].
Schweiz Med Wochenschr. 1971 Feb 13;101(6):187-90.
9
Laboratory Approach to Hemolytic Anemia.
Indian J Pediatr. 2020 Jan;87(1):66-74. doi: 10.1007/s12098-019-03119-8. Epub 2019 Dec 10.
10
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Orphanet J Rare Dis. 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验