在伊朗克尔曼省发现的一个家族，其β-珠蛋白基因存在619碱基对的缺失。
A family with the 619 bp deletion on the beta-globin gene found in Kerman Province, Iran.
作者信息
Saleh-Gohari Nasrollah, Mashizi Arezu Khosravi
机构信息
Genetic Department, Kerman University of Medical Sciences, Kerman, Iran.
出版信息
Hemoglobin. 2009;33(6):515-8. doi: 10.3109/03630260903335935.
PMID:19958199
Abstract
In the present study, we report the first case of a 619 bp deletion on the beta-globin gene, found in a family from Kerman Province, Iran. This mutation is frequent in Pakistan, but it has not been previously reported in any part of Iran. This study revealed that all family members have this beta(0)-thalassemia (beta(0)-thal) mutation.
摘要
在本研究中，我们报告了在伊朗克尔曼省的一个家族中发现的首例β-珠蛋白基因619 bp缺失病例。这种突变在巴基斯坦很常见，但此前在伊朗的任何地区均未报道过。这项研究表明，该家族所有成员都有这种β0-地中海贫血（β0-地贫）突变。
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