title: Frequency of hemochromatosis C282Y and H63D mutations in Sardinia.
abstract: Hereditary hemochromatosis (HH) is one of the most common autosomal recessive disorders of iron metabolism among Caucasians, and it is associated with C282Y mutation of the HFE gene in populations of Celtic origins. A second mutation, H63D, shows a very high widespread frequency, although its role in iron metabolism is still inconclusive. There are no data on the frequencies of these two mutations in Sardinia, an island in the Mediterranean sea that has not been invaded by Celtic peoples. We examined 836 chromosomes from Sardinian subjects and tested for the mutation by restriction enzyme digestion of PCR products. Among the 836 analyzed chromosomes, we found a C282Y allele frequency of 0.0036 and an H63D allele frequency of 0.173. These data could explain the observed rarity of HH in Sardinia. The high allele frequency of H63D and the rarity of HH in Sardinia is suggestive that this mutation is not a major contributor to this disease.
authors.affiliation: Dipartimento di Scienze Biomediche e Biotecnologie, Sezione Clinica e Biologia dell'Età Evolutiva, Università degli studi di Cagliari, Ospedale Regionale per le Microcitemie ASL, 8 Cagliari, Italy. amelis@mcweb.unica.it
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Melis
authors.forename: Milena
authors.initials: M
authors.lastname: Cau
authors.forename: Rita
authors.initials: R
authors.lastname: Congiu
authors.forename: Livia
authors.initials: L
authors.lastname: Ruvoletto
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
authors.forename: Renzo
authors.initials: R
authors.lastname: Galanello
mesh_terms: D005787:Gene Frequency; D006432:Hemochromatosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D020125:Mutation, Missense