Abstract
Background
Methods
Results
Conclusions
Key Indexing Terms
Introduction
Methods
Ethics statement
Data sources
Karczewski KJ, Franciola LC, Tiao G, et al. Cold Spring Harbor Laboratory. The mutational constraint spectrum quantified from variation in 141,456 humans, https://doi.org/10.1101/531210; 2020 [accessed 5.22.20].
Definition of African Americans
Definition of European Americans
Definition of hemochromatosis-associated HFE genotypes
Definition of documented iron overload
Definition of iron overload-related disease
Prevalence of HFE p.C282Y/p.C282Y and p.C282Y/p.H63D in African and European Americans
Documented iron overload and hemochromatosis-associated HFE genotypes
HFE genotype | Men with documented iron overload, % | Men with iron overload-related disease, % | Women with documented iron overload, % | Women with iron overload-related disease, % | Region | Reference |
---|---|---|---|---|---|---|
p.C282Y/p.C282Y | 36.5 | 28.4 | 3.6 | 1.2 | Australia | Allen et al. 14 |
p.C282Y/p.H63D | 1.2 | 1.2 | 0 | 0 | Australia | Allen et al. 14 ; Gurrin et al.5 |
Statistics
Results
Numbers of African-American adults
United States Census Bureau, Population Division. Annual Estimates of the Resident Population: April 1, 2010 to July 1, 2018: 2018 Population Estimates,https://factfinder.census.gov/faces/tableservices/jsf/pages/productview.xhtml?src=bkmk; 2018 [accessed 8.3.21 A.D.].
United States Census Bureau, Department of Commerce. Quick Facts. United States,https://www.census.gov/quickfacts/fact/table/US/IPE120217; 2019 [accessed 8.3.21].
Prevalences of hemochromatosis-associated HFE genotypes
HFE genotype | Prevalence in African Americans (n) [95% CI] | Prevalence in European Americans (n) [95% CI] | Value of p | African American/European American prevalence, % |
---|---|---|---|---|
p.C282Y/p.C282Y | 0.00017 (6/34,905) [0.000034, 0.00031] | 0.0048 (331/68,854) [0.0043, 0.0053] | <0.0001 | 4.0 |
p.C282Y/p.H63D | 0.0012 (41/33,956) [0.00084, 0.0016] | 0.020 (1343/65,627) [0.019, 0.022] | <0.0001 | 6.0 |
Iron overload and hemochromatosis-associated HFE genotypes
HFE genotypes and phenotypes | Prevalence [95% CI] in men (n = 16,287,599) | Prevalence [95% CI] in women (n = 17,644,898) |
---|---|---|
p.C282Y/p.C282Y (prevalence 0.00017 [0.000034, 0.00031]) | 2769 [554, 5049] | 3000 [600, 5470] |
No. with documented iron overload (36.5% men, 3.6% women) | 1011 [945, 1075] | 108 [88, 129] |
No. with iron overload-related disease (28.4% men, 1.2% women) | 786 [733, 847] | 36 [25, 48] |
p.C282Y/p.H63D (prevalence 0.0012 [0.00084, 0.0016]) | 19,545 [13,682, 26,060] | 21,174 [14,822, 28,232] |
No. with documented iron overload (1.2% men, 0% women) | 235 [212, 261] | 0 [0, 0] |
No. with iron overload-related disease (1.2% men, 0% women) | 235 [212, 261] | 0 [0, 0] |
Total no. with documented iron overload | 1246 [1173, 1319] | 108 [88, 129] |
Aggregate prevalence of documented iron overload | 0.000076 [0.000072, 0.000081] | 0.0000061 [0.0000050, 0.0000073] |
Total no. with iron overload-related disease | 1021 [961, 1091] | 36 [25, 48] |
Aggregate prevalence of iron overload-related disease | 0.000063 [0.000059, 0.000067] | 0.0000021 [0.0000014, 0.0000027] |
United States Census Bureau, Population Division. Annual Estimates of the Resident Population: April 1, 2010 to July 1, 2018: 2018 Population Estimates,https://factfinder.census.gov/faces/tableservices/jsf/pages/productview.xhtml?src=bkmk; 2018 [accessed 8.3.21 A.D.].
United States Census Bureau, Department of Commerce. Quick Facts. United States,https://www.census.gov/quickfacts/fact/table/US/IPE120217; 2019 [accessed 8.3.21].
Discussion
Conclusions
Declaration of Competing Interest
Source of funding statement
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