Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis |
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Authors: | Caitriona King David E Barton |
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Institution: | (1) National Centre for Medical Genetics, Our Lady's Children s Hospital, Crumlin, Dublin 12, Ireland |
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Abstract: | Background Hereditary haemochromatosis (HH) is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations.
Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position
282 (C282Y) of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position 63 (H63D). Molecular genetic
testing for these two mutations has become widespread in recent years. With diverse testing methods and reporting practices
in use, there was a clear need for agreed guidelines for haemochromatosis genetic testing. The UK Clinical Molecular Genetics
Society has elaborated a consensus process for the development of disease-specific best practice guidelines for genetic testing. |
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