Australia Information and Courses from MediaLab, Inc.
These are the MediaLab courses that cover Australia and links to relevant pages within the course.
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| Epidemiology of HFE Mutations The prevalence of common HFE mutations among persons with hereditary hemochromatosis (HH) has been reported in numerous studies conducted in the US, France, Australia, and other countries. Homozygous C282Y mutation (C282Y/C282Y) is present in 82% to 90% of Caucasian patients diagnosed with iron overload due to HH.(7) This suggests a strong link between the genotype and the phenotypic presentation of clinical iron overload. Much lower percentages of persons diagnosed with HH do not have two C282Y mutations. A small percentage of persons diagnosed with HH are compound heterozygotes for C282Y and H63D (C282Y/H63D), are homozygous for H63D (H63D/H63D), heterozygous for C282Y (C282Y/wild type) or for H63D (H63D/wild type), or carry S65C or other HFE mutations.It may be that symptomatic heterozygotes are actually HFE-compound heterozygotes with additional unidentified mutations modifying the expression of the more severe known mutation. It is quite possible that more mutations of HFE and elucidation of other gene mutations modifying HFE will be discovered in the future enabling scientists to better explain the phenotypic heterogeneity of this disorder.In the US, the C282Y mutation is most prevalent in the non-Hispanic white population. It is much less common among Hispanics and African Americans. | View Page |
| Prevalence of HFE The C282Y mutation is common in the Caucasian population, especially in people of northern European descent. Approximately 10% of Caucasian Americans are heterozygous carriers of a single C282Y mutation.(8) A greater percentage are carriers of the H63D mutation, but this mutation is much less clinically significant. Hereditary hemochromatosis appears to be most prevalent among people in the Northern British Isles--Scotland, Ireland and Great Britain--who are of Celtic descent. Persons of Celtic descent in the United States, Australia, and France also have a relatively high incidence of HH. The prevalence of HFE mutations in African Americans and Hispanic Americans is low. | View Page |