一个有β地中海贫血和甲型血友病风险的家庭中的产前诊断：一种罕见的关联。

Prenatal diagnosis in a family at risk for beta-thalassemia and hemophilia A: an uncommon association.

作者信息

Colah Roshan B, Shetty Shrimati D, Surve Reema R, Phanasgaonkar Supriya P, Nadkarni Anita H, Gorakshakar Ajit C, Ghosh Kanjaksha, Parekh Sunil J, Mohanty Dipika

机构信息

Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, India.

出版信息

Hemoglobin. 2004;28(4):343-6. doi: 10.1081/hem-200037719.

DOI:10.1081/hem-200037719

PMID:15658191

Abstract

beta-Thalassemia (thal) is an autosomal recessive disorder with a prevalence of 2-3% in Indians, while hemophilia A is X-linked with a prevalence of 1 in 5,000-10,000 male births. The chances of both these disorders being present together is extremely rare (1 in 250,000). We report an interesting consanguineous family from Western India with a combination of these two disorders, which was referred to us for prenatal diagnosis.

摘要

β地中海贫血是一种常染色体隐性疾病，在印度人群中的患病率为2%-3%，而甲型血友病是X连锁疾病，在每5000-10000例男性新生儿中的患病率为1例。这两种疾病同时出现的几率极其罕见（25万分之一）。我们报告了来自印度西部一个有意思的近亲家庭，该家庭中这两种疾病同时存在，他们前来我们这里进行产前诊断。