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血红蛋白病的产前诊断。

Prenatal diagnosis of hemoglobinopathies.

作者信息

Fischel-Ghodsian N

机构信息

UCLA School of Medicine.

出版信息

Clin Perinatol. 1990 Dec;17(4):811-28.

PMID:2286030
Abstract

Hemoglobinopathies are frequently occurring disorders for which prenatal diagnosis is possible. Couples in which one parent has microcytic hypochromic red blood cells; is of Southeast Asian, Mediterranean, Middle Eastern, Indian, or African origin; or had one previous child with a known hemoglobinopathy or a previous hydropic stillbirth should be investigated. The hemoglobinopathies have been the paradigm of prenatal diagnosis, and the lessons learned from their study are now being applied to a range of other genetic disorders for which the responsible genes have been identified.

摘要

血红蛋白病是常见疾病,可进行产前诊断。父母一方有小细胞低色素性红细胞、来自东南亚、地中海、中东、印度或非洲、或曾育有一名已知患血红蛋白病的儿童或曾有过水肿性死产的夫妇均应接受检查。血红蛋白病一直是产前诊断的范例,从对其研究中吸取的经验教训现正应用于一系列已确定致病基因的其他遗传疾病。

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