因α地中海贫血-1纯合子导致的胎儿水肿，-(α)-20.5 kb：土耳其一家系中的首例观察报道
Hydrops fetalis due to homozygosity for alpha-thalassemia-1, -(alpha)-20.5 kb: the first observation in a Turkish family.
作者信息
Gurgey A, Altay C, Beksaç M S, Bhattacharya R, Kutlar F, Huisman T H
机构信息
Department of Pediatrics, Hacettepe University, Ankara, Turkey.
出版信息
Acta Haematol. 1989;81(3):169-71. doi: 10.1159/000205553.
PMID:2496567
Abstract
We report data on a fetus with hydrops fetalis due to a homozygosity for alpha-thalassemia-1, type -(alpha)-20.5 kb; this is the first reported case in a Turkish family. Characterization of the abnormality was based on data from family studies and from alpha-globin gene mapping of the DNA from the parents.
摘要
我们报告了一例因α地中海贫血-1纯合子（-(α)-20.5 kb型）导致胎儿水肿的病例；这是土耳其家庭中首例报告病例。该异常的特征基于家系研究数据以及父母DNA的α珠蛋白基因图谱分析。
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