INITIATION CODON MUTATION (ATG-]ATA) OF THE BETA-GLOBIN GENE CAUSING BETA-THALASSEMIA IN A SWEDISH FAMILY

被引：11
|
作者：
LANDIN, B
RUDOLPHI, O
EK, B
机构：
[1] LUND UNIV,MALMO GEN HOSP,DEPT CLIN CHEM,MALMO,SWEDEN
[2] UNIV UMEA HOSP,DEPT CLIN CHEM,UMEA,SWEDEN
[3] UNIV UMEA HOSP,DEPT INTERNAL MED,UMEA,SWEDEN
来源：
AMERICAN JOURNAL OF HEMATOLOGY | 1995年 / 48卷 / 03期
关键词：
BETA-THALASSEMIA; MICROCYTOSIS; INITIATION CODON; RETICULOCYTES;
D O I：
10.1002/ajh.2830480304
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
An initiation codon mutation ATG-->ATA of the beta-globin gene was found in seven members of three generations of a family living in northern Sweden, This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a beta(0)-thalassemic phenotype, The affected family members all present hematological findings typical for beta-thalassemic trait, with slight anemia, marked microcytosis, and increased levels of Hb A(2). (C) 1995 Wiley-Liss, Inc.
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页码：158 / 162
页数：5
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