Article
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Blood - 1 Jun 2004
Lanzara Carmela, Roetto Antonella, Daraio Filomena, Rivard Silvain, Ficarella Romina, Simard Hervey, Cox Timothy M, Cazzola Mario, Piperno Alberto, Gimenez-Roqueplo Anne-Paule, Grammatico Paola, Volinia Stefano, Gasparini Paolo, Camaschella Clara
Abstract excerpt
Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iron overload and organ damage typically before age 30 years. Linkage to a locus on chromosome 1q has been found in most patients with JH. The recently identified causal gene encodes hemojuvelin, a protein with a proposed crucial role in iron metabolism. A second, rare type of JH, with clinical expression identical to...
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