. Author manuscript; available in PMC: 2016 Mar 1.

Published in final edited form as: Clin Lab Med. 2014 Nov 5;35(1):73–91. doi: 10.1016/j.cll.2014.10.011

Table 3. Genetic Alterations and Iron Status in Blood Donors.

Genetic Polymorphism	Iron Pathway Effect
HFE: C282Y, H63D	Hepcidin regulation(increased Fe absorption)
TF G277S	Transferrin mutation (decreased iron transport and iron deficiency anemia)
Hypoxia Inducible Factor 1α (HIF-1 α)	Erythropoietin and hepcidin regulation (increased RBC production and iron absorption)
TMPRSS6	Hepcidin regulation (decreased iron absorption)

Genotype Data Rise Study [Data from Mast AE, Lee TH, Schlumpf KS, Wright DJ, Johnson B, Carrick DM, Cable RG, Kiss JE, Glynn SA, Steele WR, Murphy EL, Sacher R, Busch MP, for the NHLBI Retrovirus Epidemiology Donor Study-II (RES-II). The impact of HFE mutations on hemoglobin and iron status in individuals undergoing repeated iron loss through blood donation. Br J Haematol. 2012; 156: 388-401.]:

HFE genotype: Wild Type 1,568 (64.7%)

Heterozygous H63D 573 (23.6%

Heterozygous C282Y 194 (8.0%)

Homozygous H63D 39 (1.6%)

Homozygous C282Y 7 (0.3%)

Double Mutation 41 (1.7%)

Missing 3 (0.1%)

TF G277S Genotype: Wild Type 2,107 (86.9%)

Hetero- or Homozygous 254 (10.5%)

Missing 64 (2.6%)