Article
HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants.
American journal of hematology - 1 Nov 2009
Barton James C, Lafreniere Susie A, Leiendecker-Foster Catherine, Li Honggui, Acton Ronald T, Press Richard D, Eckfeldt John H
Abstract excerpt
We sought to identify mutations that could explain iron phenotype heterogeneity in adults with previous HFE genotyping to detect C282Y and H63D. HEIRS Study participants genotyped for C282Y and H63D were designated as high transferrin saturation (TS) and/or serum ferritin (SF) (high TS/SF), low TS/SF, or controls. We grouped 191 C282Y homozygotes as high TS/SF, low TS/SF, or controls, and 594 other participants...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.