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To the Editor: Hereditary hemochromatosis (HH) is an autosomal recessive disease characterized by high absorption of iron by the gastrointestinal mucosa, leading to progressive iron deposition that causes tissue damage in the liver, joints, pancreas, heart and other organs (1). Two mutations have been described in the candidate gene for hereditary hemochromatosis (HFE), which is located on the short arm of the chromosome 6 (6p22.1). One of them is a G to A transition at nucleotide 845 that changes a cystine to a tyrosine at amino acid 282 (C282Y). The other is the transition C to G at nucleotide 187 that causes a histidine to aspartate substitution at amino acid 63 (H63D) (2). North European populations have a high prevalence of the C282Y mutation. On the contrary, it is almost absent in non-European people (3). These data strongly suggest that the mutation originated in northern Europe, where it is generally accepted that hemochromatosis has arisen. It has been postulated that the gradient distribution of frequencies in hemochromatosis is similar to the Celtic migration streams in Europe (4). In Spain, there are two populations of Celtic origin: those of Galicia and Asturias. Galicia is a region situated in the
Clinical Genetics – Wiley
Published: Jun 1, 2000
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