Cited by 198Iron Metabolism and DisordersNeurological diseases and metabolismHemoglobinopathies and Related Disorders

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Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene☆

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Gordeuk, Victor R, Caleffi, Angela, Corradini, Elena, Ferrara, Francesca, Jones, Russell A, Castro, Oswaldo, Onyekwere, Onyinye, Kittles, Rick, Pignatti, Elisa, Montosi, Giuliana, Garuti, Cinzia, Gangaidzo, Innocent T, Gomo, Z.A.R, Moyo, Victor M, Rouault, Tracey A, MacPhail, Patrick, Pietrangelo, Antonello·2003·Blood Cells, Molecules, and Diseases

DOI 10.1016/s1079-9796(03)00164-5

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Abstract

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 microg/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 microg/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.

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Self-citation
Computational Studies of the Dynamics of the Human Iron Exporter Ferroportin and Insight into the Role of Crucial Residues Involved in Pathogenic Mutations
Vulterini, S., di Patti, M. C. B., Musci, G., & Polticelli, F. (2026) · Biomolecules · doi:10.3390/biom16101382

Authors: Gordeuk, V. R., Caleffi, A., Corradini, E., Ferrara, F., Jones, R. A., Castro, O., Onyekwere, O., Kittles, R., Pignatti, E., Montosi, G., Garuti, C., Gangaidzo, I. T., Gomo, Z. A. R., Moyo, V. M., Rouault, T. A., MacPhail, P., & Pietrangelo, A.
Affiliations: Howard University (US)
University of Modena and Reggio Emilia (IT)
University of Zimbabwe (ZW)
University of Connecticut (US)
National Institutes of Health (US)
University of the Witwatersrand (ZA)
Corresponding author: Pietrangelo, Antonello
ORCID: Gordeuk, Victor R
Corradini, Elena
Castro, Oswaldo
Kittles, Rick
Pignatti, Elisa
Gangaidzo, Innocent T
Moyo, Victor M
Rouault, Tracey A
Pietrangelo, Antonello
Venue: Blood Cells, Molecules, and Diseases
Publisher: Elsevier BV
Published: 2003-11
Volume: 31
Issue: 3
Pages: 299-304
ISSN: 1079-9796 (ISSN-L)
DOI: 10.1016/s1079-9796(03)00164-5
OpenAlex: W2057358785
Cited by: 198
References: 18
Citations by year: 2026: 1 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 8 · 2020: 5 · 2019: 3 · 2018: 8 · 2017: 6 · 2016: 8 · 2015: 5 · 2014: 5 · 2013: 6 · 2012: 8
FWCI: 9.91
Type: journal article
Language: en
Update notices: erratum (2004-07-01)
Open access: green
hdl.handle.net
Licence: cc-by
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Blood Cells Molecules and Diseases (publishedVersion)
PubMed (publishedVersion)
IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
Funders: National Heart, Lung, and Blood Institute (UH1-HL03679-05, UH1HL003679)
National Center for Research Resources (M01RR010284, M01-RR10284)
Topics: Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
Keywords: iron overload, ferroportin 1, SLC40A1, hereditary iron overload, serum ferritin, hemoglobin, anemia, African populations, African Americans, genetic polymorphism, Southern Africa
MeSH terms: Ferroportin, Base Sequence, Black or African American, Female, Ferritins, Glutamine, Hematologic Tests, Histidine, Humans, Iron, Middle Aged, Molecular Sequence Data, Mutation, Polymorphism, Genetic, Iron Overload, Cation Transport Proteins, Black People

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Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene☆

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