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Frequency of hemochromatosis C282Y and H63D mutations in Sardinia

Maria Antonietta Melis1, Milena Cau, Rita Congiu

  • 1Dipartimento 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

Genetic Testing
|January 23, 2003
PubMed

Insights

Hereditary hemochromatosis (HH) is rare in Sardinia. Researchers found low C282Y and high H63D HFE gene mutation frequencies, suggesting H63D is not a major cause of HH in this population.

Area of Science:

  • Genetics
  • Human Metabolism
  • Population Studies

Background:

  • Hereditary hemochromatosis (HH) is a common autosomal recessive iron metabolism disorder in Caucasians.
  • The C282Y mutation of the HFE gene is strongly linked to HH in Celtic populations.
  • The role of the H63D HFE gene mutation in iron metabolism and HH remains unclear.

Purpose of the Study:

  • To determine the frequencies of C282Y and H63D HFE gene mutations in Sardinia.
  • To investigate the potential contribution of these mutations to the observed rarity of HH in Sardinia.

Main Methods:

  • Analysis of 836 chromosomes from Sardinian subjects.
  • Mutation detection using restriction enzyme digestion of PCR products.

Main Results:

  • The C282Y allele frequency was found to be 0.0036.
  • The H63D allele frequency was determined to be 0.173.
  • These frequencies align with the low incidence of HH in Sardinia.

Conclusions:

  • The low frequency of C282Y and the high frequency of H63D in Sardinians may explain the rarity of hereditary hemochromatosis on the island.
  • The H63D mutation is unlikely to be a significant contributor to HH in Sardinia, despite its high prevalence.

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