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Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene☆
Open accessAbstract
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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“An endemic form of secondary iron overload has been linked to a mutation in the ferroportin gene (186) and is associated with an increased incidence and mortality from TB.”
From Macrophage defense mechanisms against intracellular bacteria (2015) · cites this paper as [186]
In the citing paper
“An endemic form of secondary iron overload has been linked to a mutation in the ferroportin gene (186) and is associated with an increased incidence and mortality from TB.”
From Macrophage defense mechanisms against intracellular bacteria (2015) · cites this paper as [186]
In the citing paper
“The pathophysiologic relevance of this mechanism is illustrated by the fact that individuals carrying mutations in the FPN gene, which is associated with intracellular Fe retention and secondary siderosis in Africa (also termed Bantu disease), are challenged with an increased incidence of Mycobacteria infection and higher mortality from tuberculosis [162].”
From The Iron age of host–microbe interactions (2015) · cites this paper as [162]
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Self-citationAutosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene
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Hereditary Hemochromatosis — A New Look at an Old Disease
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Self-citationMacrophage defense mechanisms against intracellular bacteria
Weiss, G., & Schaible, U. E. (2015) · Immunological Reviews · doi:10.1111/imr.12266 · Cited by 989
Hemochromatosis and Iron-Overload Screening in a Racially Diverse Population
Adams, P. C., Reboussin, D. M., Barton, J. C., McLaren, C. E., Eckfeldt, J. H., McLaren, G. D., Dawkins, F. W., Acton, R. T., Harris, E. L., Gordeuk, V. R., et al. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa041534 · Cited by 770
Self-citationKnovich, M. A., Storey, J. A., Coffman, L. G., Torti, S. V., & Torti, F. M. (2008) · Blood Reviews · doi:10.1016/j.blre.2008.08.001 · Cited by 687
Drakesmith, H., Nemeth, E., & Ganz, T. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2015.09.006 · Cited by 638
Metadata
- 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
- Venue
- Blood Cells, Molecules, and Diseases
- Publisher
- Elsevier BV
- Published
- 2003-11
- Volume
- 31
- Issue
- 3
- Pages
- 299-304
- ISSN
- 1079-9796 (ISSN-L)
- 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
- 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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