title: High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients.
abstract: Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population. Among the 50 patients examined [26 refractory anemia (RA), 9 refractory anemia with ring sideroblasts (RARS), 2 refractory anemia with excess of blasts (RAEB) and 13 refractory anemia with excess of blasts in transformation (RAEB-t)] there were 24 heterozygotes (20 for H63D and 4 for C282Y), 1 homozygote for H63D and 1 compound heterozygote. The difference between the HFE-positive and HFE-negative MDS patients as regards initial serum iron and transferrin saturation was not significant. Inevitably the iron overload syndrome eventually develops in MDS patients due to intrinsic characteristics of the disease as well as an escalating need for blood transfusion therapy in the course of the disease. The high incidence rate of HFE gene mutations among MDS patients may also contribute to this vicious circle.
authors.affiliation: 3rd Department of Internal Medicine, Semmelweis University Medical School, Budapest, Hungary. quitvar@axelero.hu
authors.forename: Judit
authors.initials: J
authors.lastname: Várkonyi
authors.forename: Gábor
authors.initials: G
authors.lastname: Tarkovács
authors.forename: István
authors.initials: I
authors.lastname: Karádi
authors.forename: Hajnalka
authors.initials: H
authors.lastname: Andrikovics
authors.forename: Ferenc
authors.initials: F
authors.lastname: Varga
authors.forename: Fatime
authors.initials: F
authors.lastname: Varga
authors.forename: Judit
authors.initials: J
authors.lastname: Demeter
authors.forename: Attila
authors.initials: A
authors.lastname: Tordai
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006814:Hungary; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*