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PMID: 14636643 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Blood cells, molecules & diseases ·Vol. 31 ·No. 3 ·2003-00-00 ·Pages 305-9

Beutler E, Barton JC, Felitti VJ, Gelbart T, West C, Lee PL, Waalen J, Vulpe C

Abstract

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.

MeSH Terms
Africa/ethnology African Americans/genetics Aging/blood Cation Transport Proteins/genetics Female Ferritins/blood Genetic Predisposition to Disease/genetics Genotype Humans Iron Overload/blood,genetics Male Mutation/genetics Mutation, Missense/genetics Polymorphism, Genetic/genetics Sex Characteristics Whites
Chemicals
Cation Transport Proteins metal transporting protein 1 Ferritins
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Beutler Ernest
Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA. beutler@scripps.edu
Barton James C
Felitti Vincent J
Gelbart Terri
West Carol
Lee Pauline L
Waalen Jill
Vulpe Chris
Article Info
Journal
Blood cells, molecules & diseases
Abbr.
Blood Cells Mol Dis
ISSN
1079-9796
Published
2003-00-00
Pages
305-9
Language
English
Region
United States
NLM ID
9509932
Subset
IM
Grants
NIDDK NIH HHS · DK 53505-04 · United States
NCRR NIH HHS · RR 00833 · United States
NIGMS NIH HHS · U01 GM 61390 · United States
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