伊朗小细胞低色素性贫血患者α-珠蛋白基因缺失及点突变分析
alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia.
作者信息
Garshasbi Masoud, Oberkanins Christian, Law Hai Yang, Neishabury Maryam, Kariminejad Roxana, Najmabadi Hossein
出版信息
Haematologica. 2003 Oct;88(10):1196-7.
PMID:14555321
Abstract
We tested 67 Iranian individuals, presenting with low mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) levels, normal hemoglobin electrophoresis and iron status, for the presence of twelve common alpha-thalassemia gene deletions and point mutations. Five different mutations (-alpha(3.7), -alpha(4.2), --MED, -(alpha)20.5, Hb Constant Spring) were identified in a total of 43 cases
摘要
我们检测了67名伊朗个体，这些个体呈现低平均红细胞体积（MCV）和平均红细胞血红蛋白（MCH）水平，血红蛋白电泳和铁状态正常，以检测是否存在十二种常见的α地中海贫血基因缺失和点突变。在总共43例病例中鉴定出五种不同的突变（-α(3.7)、-α(4.2)、--MED、-(α)20.5、血红蛋白Constant Spring）
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