ArticleBlood cells, molecules & diseases
Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
Article in Blood cells, molecules & diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 48 citations in OpenAlex.
- The ferroportin Q248H mutation protects from anemia, but not malaria or bacteremia.Science advances · 2019Trial
- Iron overload in hereditary spherocytosis: Are genetic factors the cause?British journal of haematology · 2026Article
- Ethnic Differences in Iron Status.Advances in nutrition (Bethesda, Md.) · 2021Review
- Differences in the frequency of genetic variants associated with iron imbalance among global populations.PloS one · 2020Article
- GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.Molecular nutrition & food research · 2019Review
- Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.Pharmaceuticals (Basel, Switzerland) · 2019Review
- The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.International journal of hematology · 2018Review
- Ethnic and genetic factors of iron status in women of reproductive age.The American journal of clinical nutrition · 2017Observational
- Ironing out Ferroportin.Cell metabolism · 2015Review
- Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin.Haematologica · 2013Article
- Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating plasma tumor necrosis factor-alpha and macrophage migration inhibitory factor concentrations in African children.Clinica chimica acta; international journal of clinical chemistry · 2010Article
- Gender-related variations in iron metabolism and liver diseases.World journal of hepatology · 2010Article
- HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.Environmental health : a global access science source · 2010Article
- Genetic mechanisms and modifying factors in hereditary hemochromatosis.Nature reviews. Gastroenterology & hepatology · 2010Review
- Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.Hematology. American Society of Hematology. Education Program · 2009Article
- Ferroportin Q248h, dietary iron, and serum ferritin in community African-Americans with low to high alcohol consumption.Alcoholism, clinical and experimental research · 2008Article
- Hereditary hemochromatosis in the post-HFE era.Hepatology (Baltimore, Md.) · 2008Article
- SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent.Blood cells, molecules & diseasesArticle
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 2 countries.
Funding
Abstract
The ferroportin (FPN1) Q248H polymorphism has been associated with increased serum ferritin (SF) levels in sub-Saharan Africans and in African Americans (AA). AA participants of the HEIRS Study who did not have HFE C282Y or H63D who had elevated initial screening SF (> or =300 microg/L in men and >= or =200 microg/L in women) (defined as cases) were frequency-matched to AA participants with normal SF (defined as controls) to investigate the association of the Q248H with elevated SF. 10.4% of cases and 6.7% of controls were Q248H heterozygotes (P=0.257). Q248H homozygosity was observed in 0.5% of the cases and none of the controls. The frequency of Q248H was higher among men with elevated SF than among control men (P=0.047); corresponding differences were not observed among women. This appeared to be unrelated to self-reports of a previous diagnosis of liver disease. Men with elevated SF were three times more likely than women with elevated SF to have Q248H (P=0.012). There were no significant differences in Q248H frequencies in men and women control participants. We conclude that the frequency of the FPN1 Q248H polymorphism is greater in AA men with elevated SF than in those with normal SF.
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