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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene
Blood Cells, Molecules, and Diseases, Volume 31, No. 3, Year 2003
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Description
The product of the SLC40A1 gene, ferroportin 1, is a main iron export protein. Pathogenic mutations in ferroportin 1 lead to an autosomal dominant hereditary iron overload syndrome characterized by high serum ferritin concentration, normal transferrin saturation, iron accumulation predominantly in macrophages, and marginal anemia. Iron overload occurs in both the African and the African-American populations, but a possible genetic basis has not been established. We analyzed the ferroportin 1 gene in 19 unrelated patients from southern Africa (N = 15) and the United States (N = 4) presenting with primary iron overload. We found a new c. 744 C→T (Q248H) mutation in the SLC40A1 gene in 4 of these patients (3 Africans and 1 African-American). Among 22 first degree family members, 10 of whom were Q248H heterozygotes, the mutation was associated with a trend to higher serum ferritin to amino aspartate transferase ratios (means of 14.8 versus 4.3 μg/U; P = 0.1) and lower hemoglobin concentrations (means of 11.8 versus 13.2 g/dL; P = 0.1). The ratio corrects serum ferritin concentration for alcohol-induced hepatocellular damage. We also found heterozygosity for the Q248H mutation in 7 of 51 (14%) southern African community control participants selected because they had a serum ferritin concentration below 400 μg/L and in 5 of 100 (5%) anonymous African-Americans, but we did not find the change in 300 Caucasians with normal iron status and 25 Caucasians with non-HFE iron overload. The hemoglobin concentration was significantly lower in the African community controls with the Q248H mutation than in those without it. We conclude that the Q248H mutation is a common polymorphism in the ferroportin 1 gene in African populations that may be associated with mild anemia and a tendency to iron loading. © 2003 Elsevier Inc. All rights reserved.
Authors & Co-Authors
Gordeuk, Victor R.
United States, Washington, D.c.
Howard University
Caleffi, Angela
Italy, Modena
Azienda Ospedaliero - Universitaria Di Modena
Corradini, Elena
Italy, Modena
Azienda Ospedaliero - Universitaria Di Modena
Ferrara, Francesca
Italy, Modena
Azienda Ospedaliero - Universitaria Di Modena
Jones, Russell A.
United States, Chattanooga
Chattanooga Oncology Hematology Associates
Castro, Oswaldo Ido
United States, Washington, D.c.
Howard University
Onyekwere, Onyinye C.
United States, Washington, D.c.
Howard University
Kittles, Rick A.
United States, Washington, D.c.
Howard University
Pignatti, Elisa
Italy, Modena
Azienda Ospedaliero - Universitaria Di Modena
Montosi, Giuliana
Italy, Modena
Azienda Ospedaliero - Universitaria Di Modena
Garuti, Cinzia
Italy, Modena
Azienda Ospedaliero - Universitaria Di Modena
Gangaidzo, Innocent Tichaona
Zimbabwe, Harare
University of Zimbabwe
Gomo, Zvenyika Alfred R.
Zimbabwe, Harare
University of Zimbabwe
Moyo, Victor M.
United States, Storrs
University of Connecticut
Rouault, Tracey Ann
United States, Bethesda
National Institute of Child Health and Human Development Nichd
MacPhail, Andrew Patrick
South Africa, Johannesburg
University of the Witwatersrand
Pietrangelo, Antonello
Italy, Modena
Azienda Ospedaliero - Universitaria Di Modena
Statistics
Citations: 192
Authors: 17
Affiliations: 7
Identifiers
Doi:
10.1016/S1079-9796(03)00164-5
ISSN:
10799796
Research Areas
Cancer
Genetics And Genomics
Substance Abuse
Study Approach
Qualitative