Abstract
Background
Little is known about the prevalence of HFE (homeostatic iron regulator) hemochromatosis in African Americans (AA).
Methods
We 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.
Results
There 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.
Conclusions
We 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.
Key Indexing Terms
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Article Info
Publication History
Published online: September 09, 2022
Accepted:
August 10,
2022
Received:
December 1,
2021
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2022 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.
