Impact of HLA-H Mutations on Iron Stores in Healthy Elderly Men and Women

• Published in: Blood cells, molecules, & diseases molecules, & diseases, 1997-08, Vol.23 (2), p.277-287
• Main Authors: Garry, Philip J., Montoya, George D., Baumgartner, Richard N., Liang, Hwa Chi, Williams, Tom M., Brodie, Steven G.
• Format: Article
• Language: English
• Subjects: Aged; Aged, 80 and over; ageing; Anemia - blood; Anemia - genetics; Anemia, Macrocytic - blood; Anemia, Macrocytic - genetics; Diet; Female; Ferritins - blood; Gene Frequency; Genetic Carrier Screening; hemochromatosis; Hemochromatosis - blood; Hemochromatosis - genetics; Hemochromatosis Protein; Histocompatibility Antigens Class I - genetics; HLA Antigens - genetics; HLA-H; Homozygote; Humans; Iron - metabolism; iron stores; Male; Membrane Proteins; Middle Aged; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; PSAT; Reference Values; serum ferritin; serum transferrin saturation; Sex Characteristics; Transferrin - metabolism
• ISSN: 1079-9796; 1096-0961
• DOI: 10.1006/bcmd.1997.0144

The DNA of 287 healthy white elderly volunteers in the New Mexico Aging Process Study, between 63 and 91 years of age, was examined for mutations of the HLA-H gene at nt 845 and nt 187. None were found to be homozygous for the 845A mutation and there were no gender differences in the percentage of the various mutations. The frequency of the 845A mutation was 0.061 resulting in a carrier frequency of 12.2%. The frequency of the 187G mutation was 0.136 resulting in a carrier frequency of 19.9% for a single mutation; 2.4% were compound heterozygous, 845A/187G and 2.4% were homozygous for the 187G mutation. After excluding 5 men and 4 women with microcytic or macrocytic anemia, mean percent transferrin saturation (PSAT) and iron stores, as estimated from serum ferritin concentrations, were calculated for each mutation. Estimated iron stores were normally distributed (range ∼50 to 1,550 mg) with men (n=111) having significantly higher mean estimated iron stores than women (n=167), 826±318 and 753±287 mg, respectively. More men, 15 of 28, (54%) with estimated iron stores in the upper quartile, ≥1,050 mg, had a HLA-H mutation compared to 25 of 83 (30%) who had a mutation and whose estimated iron stores were