The impact of HFE mutations on haemoglobin and iron status in individuals experiencing repeated iron loss through blood donation

• Published in: British journal of haematology Vol. 156; no. 3; pp. 388 - 401
• Main Authors: Mast, Alan E., Lee, Tzong-Hae, Schlumpf, Karen S., Wright, David J., Johnson, Bryce, Carrick, Danielle M., Cable, Ritchard G., Kiss, Joseph E., Glynn, Simone A., Steele, Whitney R., Murphy, Edward L., Sacher, Ronald, Busch, Michael P.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.02.2012; Blackwell
• Subjects: Adolescent; Adult; Aged; Anemia, Iron-Deficiency - epidemiology; Anemia, Iron-Deficiency - etiology; Anemia, Iron-Deficiency - prevention & control; Anemias. Hemoglobinopathies; Biological and medical sciences; Blood Cell Count; blood donor; Blood Donors - legislation & jurisprudence; Diseases of red blood cells; Ethnic Groups; Female; ferritin; Ferritins - blood; Follow-Up Studies; Genotype; haemoglobin; Hematologic and hematopoietic diseases; Hemochromatosis - blood; Hemochromatosis - ethnology; Hemochromatosis Protein; Hemoglobins - metabolism; HFE; Histocompatibility Antigens Class I - genetics; Histocompatibility Antigens Class I - physiology; Humans; Iron - blood; Iron - deficiency; Male; Medical sciences; Membrane Proteins - genetics; Membrane Proteins - physiology; Metabolic diseases; Metals (hemochromatosis...); Middle Aged; Mutation; Other metabolic disorders; Receptors, Transferrin - analysis; Reticulocyte Count; Time Factors; United States - epidemiology; Young Adult; Human; Hematology; Iron deficiency anemia; HFE; Ferritin; Metabolic diseases; Hemopathy; Iron; Inorganic element; Hemochromatosis gene; haemoglobin; Blood loss; Hemoglobin; Genetics; Mutation; iron deficiency; Sideropenia; Blood donor
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/j.1365-2141.2011.08952.x

Summary Frequent blood donors become iron deficient. HFE mutations are present in over 30% of donors. A 24‐month study of 888 first time/reactivated donors and 1537 frequent donors measured haemoglobin and iron status to assess how HFE mutations impact the development of iron deficiency erythropoiesis. Donors with two HFE mutations had increased baseline haemoglobin and iron stores as did those with one mutation, albeit to a lesser extent. Over multiple donations haemoglobin and iron status of donors with HFE mutations paralleled those lacking mutations. The prevalence of HFE mutations was not increased in higher intensity donors. Thus, in general, HFE mutations do not temper donation‐induced changes in haemoglobin and iron status. However, in Black donors there was an increase of H63D carriers at baseline, from 3·7% in first time/reactivated donors to 15·8% in frequent donors, suggesting that the relative effects of HFE mutations on iron absorption may vary between racial/ethnic groups. In secondary analyses, venous haemoglobin decreased more slowly in donors with ferritin ≥12 μg/l; and haemoglobin recovery time was shorter in donors with reticulocyte haemoglobin (CHr) ≥32·6 pg, indicating that these biochemical measures are better indicators of a donor’s response to phlebotomy than their HFE mutation status.