Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans

被引：95

作者：

Beutler, E

Barton, JC

Felitti, VJ

Gelbart, T

West, C

Lee, PL

Waalen, J

Vulpe, C

机构：

[1] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA

[2] So Iron Disorders Ctr, Birmingham 35209, W Midlands, England

[3] Kaiser Permanente, Dept Prevent Med, San Diego, CA 92111 USA

[4] Univ Calif Berkeley, Dept Nutr Sci & Toxicol, Berkeley, CA 94720 USA

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2003年 / 31卷 / 03期

关键词：

D O I：

10.1016/S1079-9796(03)00165-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We find that in the Black American population average ferritin levels are higher than those in Whites, both among men and women. African-Americans have an increased prevalence of iron storage disease characterized by prominent iron deposition in macrophages of the liver and other organs. The iron distribution in patients with mutations of the ferroportin gene is similar. A c.744 G-->T (Gln 248 His) mutation was detected among African-Americans at polymorphic frequencies. This variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload. (C) 2003 Elsevier Inc. All rights reserved.

引用

页码：305 / 309

页数：5

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