Journal article
GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes
JC Barton, WP Chen, MJ Emond, PD Phatak, VN Subramaniam, PC Adams, LC Gurrin, GJ Anderson, GA Ramm, LW Powell, KJ Allen, JD Phillips, CJ Parker, GD McLaren, CE McLaren
Blood Cells Molecules and Diseases | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2017
Abstract
Background GNPAT p.D519G positivity is significantly increased in HFE p.C282Y homozygotes with markedly increased iron stores. We sought to determine associations of p.D519G and iron-related variables with iron stores in p.C282Y homozygotes. Methods We defined markedly increased iron stores as serum ferritin > 2247 pmol/L (> 1000 μg/L) and either hepatic iron > 236 μmol/g dry weight or iron > 10 g by induction phlebotomy (men and women). We defined normal or mildly elevated iron stores as serum ferritin < 674.1 pmol/L (< 300 μg/L) or either age ≥ 40 y with iron ≤ 2.5 g iron by induction phlebotomy or age ≥ 50 y with ≤ 3.0 g iron by induction phlebotomy (men only). We compared participant sub..
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Awarded by National Cancer Institute
Funding Acknowledgements
The authors recognize and appreciate financial support in part by grant 1R24DK093433-01 from the National Institute of Diabetes and Digestive and Kidney Diseases, grant P30 CA-62203 from the National Cancer Institute, and funds from the Department of Veterans Affairs. V.N.S., G.A.R., and G.J.A. are supported by Senior Research Fellowships from the NHMRC of Australia. J.C.B. is supported in part by Southern Iron Disorders Center.