title: Effect of co-inheritance of β-thalassemia and hemochromatosis mutations on iron overload.
abstract: Co-inheritance of mutations in the HFE gene underlying hereditary hemocromatosis (HH) may play a role in the variability of iron status in patients with β-thalassemia (β-thal) minor. Different studies have yielded conflicting results: some suggest iron overload might arise from the interaction of the β-thal trait with homozygosity or even heterozygosity for HFE mutations and others that it was unrelated to the HFE genotype. Because of the high frequency of HFE mutations in the Balearic Islands, where the β-thal trait is also moderately common, it is of interest to evaluate the effect of the co-inheritance of mutations in both genes on the severity of iron loading. A retrospective analysis of 142 individuals heterozygous for β-thal was performed to investigate the effect of HFE mutations on iron status of these patients. No significant differences were detected between β-thal carriers with and without HFE mutations. These results suggest that in the Balearic population the β-thal trait does not tend to be aggravated by the co-inheritance of HFE mutations.
authors: Servicio de Análisis Clínicos, Hospital Universitario Son Dureta, Palma de Mallorca, Illes Balears, España.
authors: Herminio
authors: H
authors: López-Escribano
authors: Joana F
authors: JF
authors: Ferragut
authors: Maria M
authors: MM
authors: Parera
authors: Pilar
authors: P
authors: Guix
authors: José A
authors: JA
authors: Castro
authors: M Misericòrdia
authors: MM
authors: Ramon
authors: Antònia
authors: A
authors: Picornell
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000378:metabolism; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics* / Q000378:metabolism; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D019190:Iron Overload / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D012189:Retrospective Studies; D013030:Spain; D014168:Transferrin / Q000378:metabolism; D017086:beta-Thalassemia / Q000235:genetics* / Q000378:metabolism
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins