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Genetic factors influencing hemoglobin levels in 15,567 blood donors: results from the Danish Blood Donor Study
Author(s) -
Sørensen Erik,
Rigas Andreas S.,
Didriksen Maria,
Burgdorf Kristoffer S.,
Thørner Lise W.,
Pedersen Ole B.,
Hjalgrim Henrik,
Petersen Mikkel S.,
Erikstrup Christian,
Ullum Henrik
Publication year - 2019
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.15075
Subject(s) - single nucleotide polymorphism , medicine , allele , hemoglobin , hepcidin , genotype , gastroenterology , anemia , genetics , biology , gene
BACKGROUND Blood donors have an increased risk of low hemoglobin (Hb) levels due to iron deficiency. Therefore, knowledge of genetic variants associated with low Hb could facilitate individualized donation intervals. We have previously reported three specific single‐nucleotide polymorphisms that were associated with ferritin levels in blood donors. In this study, we investigated the effect of these single‐nucleotide polymorphisms on Hb levels in 15,567 Danish blood donors. STUDY DESIGN AND METHODS We studied 15,567 participants in the Danish Blood Donor Study. The examined genes and single‐nucleotide polymorphisms were 1) TMPRSS6 , involved in regulation of hepcidin: rs855791; 2) HFE , associated with hemochromatosis: rs1800562 and rs1799945; 3) BTBD9 , associated with restless leg syndrome: rs9357271; and 4) TF , encoding transferrin: rs2280673 and rs1830084. Associations with Hb levels and risk of Hb deferral were assessed in multivariable linear and logistic regression models. RESULTS The HFE ,rs1800562 G‐allele and the HFE rs1799945 C‐allele were associated with lower Hb levels in men and women, and with an increased risk of Hb below 7.8 mmol/L (12.5 g/dL) in women. Only the rs1799945 C‐allele increased the risk of Hb below 8.4 mmol/L (13.5 g/dL) in men. In TMPRSS6 , the rs855791 T‐allele was associated with lower Hb levels in both men and women, and with an increased risk of low Hb among women. CONCLUSION With this study we demonstrate that HFE and TMPRSS6 are associated with Hb levels and risk of Hb below the limit of deferral. Thus, genetic testing may be useful in a future assay for personalized donation intervals.