J C Barton1, R T Acton. 1. Southern Iron Disorders Center, Birmingham, Alabama, USA.
Abstract
PURPOSE: Two unrelated African Americans had hemochromatosis phenotypes and genotypes. We sought to identify origins of their HFE mutations and estimate frequencies of similar cases. METHODS: HFE and HLA genotyping were performed in index cases and family members. HFE genotypes of 1,373 African American controls in five regions were tabulated. RESULTS: Index cases had C282Y/C282Y and C282Y/H63D, respectively; each corresponding Ch6p was likely of Caucasian origin. In controls, frequencies of hemochromatosis-associated genotypes were as follows: C282Y/C282Y, 0.00011; C282Y/H63D, 0.00067; and H63D/H63D, 0.00101. CONCLUSIONS: Penetrance-adjusted estimates indicate that approximately 9 African Americans per 100,000 have a hemochromatosis phenotype and two common HFE mutations. Hemochromatosis-associated genotype frequencies varied 11.7-fold across regions.
PURPOSE: Two unrelated African Americans had hemochromatosis phenotypes and genotypes. We sought to identify origins of their HFE mutations and estimate frequencies of similar cases. METHODS: HFE and HLA genotyping were performed in index cases and family members. HFE genotypes of 1,373 African American controls in five regions were tabulated. RESULTS: Index cases had C282Y/C282Y and C282Y/H63D, respectively; each corresponding Ch6p was likely of Caucasian origin. In controls, frequencies of hemochromatosis-associated genotypes were as follows: C282Y/C282Y, 0.00011; C282Y/H63D, 0.00067; and H63D/H63D, 0.00101. CONCLUSIONS: Penetrance-adjusted estimates indicate that approximately 9 African Americans per 100,000 have a hemochromatosis phenotype and two common HFE mutations. Hemochromatosis-associated genotype frequencies varied 11.7-fold across regions.
Authors: Charles A Rivers; James C Barton; Victor R Gordeuk; Ronald T Acton; Mark R Speechley; Beverly M Snively; Catherine Leiendecker-Foster; Richard D Press; Paul C Adams; Gordon D McLaren; Fitzroy W Dawkins; Christine E McLaren; David M Reboussin Journal: Blood Cells Mol Dis Date: 2007-02-05 Impact factor: 3.039
Authors: XinJing Wang; Catherine Leiendecker-Foster; Ronald T Acton; James C Barton; Christine E McLaren; Gordon D McLaren; Victor R Gordeuk; John H Eckfeldt Journal: Blood Cells Mol Dis Date: 2009-01-26 Impact factor: 3.039
Authors: James C Barton; Ronald T Acton; Laura E Anderson; C Bruce Alexander Journal: Clin Gastroenterol Hepatol Date: 2009-03-21 Impact factor: 11.382
Authors: James C Barton; Luigi F Bertoli; Thomas J Alford; J Clayborn Barton; Corwin Q Edwards Journal: Am J Med Sci Date: 2015-01 Impact factor: 2.378