HFE hemochromatosis in African Americans: Prevalence estimates of iron overload and iron overload-related disease |
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| Affiliation: | 1. Southern Iron Disorders Center, Birmingham, AL, USA;2. Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA;3. Department of Medicine, Intermountain Medical Center and University of Utah, Salt Lake City, UT, USA;4. Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL, USA;1. Department of ENT and Head & Neck Surgery, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India;2. Department of Radiodiagnosis, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India;1. Tianjin Medical University, Tianjin 300211, People''s Republic of China;2. TEDA International Cardiovascular Hospital, Tianjin 300457, People''s Republic of China;3. Center of Clinical Epidemiology, TEDA International Cardiovascular Hospital, Tianjin 300457, People''s Republic of China;4. Department of Hypertension, TEDA International Cardiovascular Hospital, Tianjin 300457, People''s Republic of China;1. Department of Pathology and Medical Research Center, Beijing Chaoyang Hospital, Capital Medical University, Chaoyang District, Beijing, PR China;2. Department of Pathology, The Fourth Affiliated Hospital of Shihezi University, Akesu, Xinjiang, PR China.;1. Nephrology Institute, Shaare Zedek Medical Center, Jerusalem, Israel;2. Department of Radiology, Shaare Zedek Medical Center, Affiliated with the Hebrew University, Jerusalem, Israel;3. Hadassah Hebrew University School of Medicine Campus Ein Kerem, Jerusalem 9112102, Israel |
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| Abstract: | BackgroundLittle is known about the prevalence of HFE (homeostatic iron regulator) hemochromatosis in African Americans (AA).MethodsWe defined AA as self-identified AA, blacks, or non-Hispanic blacks. We defined hemochromatosis-associated HFE genotypes as p.C282Y/p.C282Y and p.C282Y/p.H63D. We compiled prevalences of these genotypes in AA using published population and cohort data and numbers of men and women ≥18 y? in 2018 U.S. Census estimates. We defined iron overload (IO) and IO-related disease by genotype as previously reported in population and cohort studies of hemochromatosis in whites of European ancestry. We used these definitions to estimate prevalences and numbers of AA with IO and IO-related disease associated with hemochromatosis-associated HFE genotypes.ResultsThere were ～16,287,599 men and ～17,644,898 women. HFE genotypes and their respective prevalences were: p.C282Y/p.C282Y, 0.00017 (6/34,905) [95% confidence interval 0.000034, 0.00031] and p.C282Y/p.H63D, 0.0012 (41/33,596) [0.000084, 0.0016]. IO prevalences were: men 0.000076 [0.000072, 0.000081] and women 0.0000061 [0.0000050, 0.0000073]. IO-related disease prevalences were: men 0.000063 [0.000059, 0.000067] and women 0.0000021 [0.0000014, 0.0000027]. There were ～1021 [961, 1091] men and ～36 [25, 48] women with IO-related disease.ConclusionsWe conclude that ～1/25,061 AA >18 y have a hemochromatosis-associated HFE genotype and IO and that ～1/32,103 AA >18 y have a hemochromatosis-associated HFE genotype and IO-related disease. |
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