Article
Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients.
Blood cells, molecules & diseases - 1 Jan 2000
Potekhina Ekaterina S, Lavrov Alexander V, Samokhodskaya Larisa M, Efimenko Anastasia Y, Balatskiy Alexander V, Baev Alexander A, Litvinova Maria M, Nikitina Ludmila A, Shipulin German A, Bochkov Nikolay P, Tkachuk Vsevolod A, Bochkov Valery N
Abstract excerpt
Hereditary hemochromatosis (HH) is a common cause of primary iron overload induced by genetic impairment of iron metabolism. More than 80% of HH patients in populations of European origin are homozygotes for a single mutation C282Y, or compound heterozygotes for C282Y and H63D mutations in the HFE gene. However, in the majority of Asian, African, Australasian, and Amerindian populations, frequencies of C282Y are...
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