Article
Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin.
Blood cells, molecules & diseases - 1 Jan 2000
Papanikolaou G, Papaioannou M, Politou M, Vavatsi N, Kioumi A, Tsiatsiou P, Marinaki P, Loukopoulos D, Christakis J I
Abstract excerpt
Hereditary hemochromatosis is a genetically heterogeneous disease. Common HFE mutations (C282Y and H63D) are related to the majority of hereditary hemochromatosis cases in populations of Northern European ancestry (HFE1). Juvenile hemochromatosis (JH) is a more severe iron overload disorder, usually presenting at the second decade of life. The gene responsible for JH lies on a genetic locus at chromosome 1q. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.