Molecular characterization of thalassemia intermedia in Indians

被引：0

作者：

Panigrahi, Inusha ^{[1
]}

Agarwal, Sarita ^{[2
]}

Pradhan, Mandakini ^{[2
]}

Choudhry, Dharma R. ^{[1
]}

Choudhry, Ved P. ^{[1
]}

Saxena, Renu ^{[1
]}

机构：

[1] All India Inst Med Sci, Dept Haematol, New Delhi 29, India

[2] Sanjay Gandhi Postgrad Inst Med Sci, Dept Med Genet, Lucknow 14, Uttar Pradesh, India

来源：

HAEMATOLOGICA | 2006年 / 91卷 / 09期

关键词：

alpha gene deletions; alpha anti 3.7 triplication; jaundice; molecular analysis; thalassemia intermedia;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Thalassemia intermedia shows considerable heterogeneity. The purpose of this study was to evaluate the prevalence and effect of common molecular determinants in thalassemia intermedia. In 73 cases of thalassemia intermedia, the possible molecular basis was co-existent alpha-deletions (n=16/50), homozygous XmnI polymorphism (n=17/50), both factors (n=3/50), and milder beta-alleles (n=9/50) in homozygous beta-thalassemia (total 50 cases). In heterozygous beta-thalassemia, alpha alpha alpha(anti-3.7) triplication was the predominant factor (14/23 cases).

引用

页码：1279 / 1280

页数：2

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