Molecular Diagnostic and Pathogenesis of Hereditary Hemochromatosis

Abstract excerpt

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by enhanced intestinal absorption of dietary iron. Without therapeutic intervention, iron overload leads to multiple organ damage such as liver cirrhosis, cardiomyopathy, diabetes, arthritis, hypogonadism and skin pigmentation. Most HH patients carry HFE mutant genotypes: homozygosity for p.Cys282Tyr or p.Cys282Tyr/p.His63Asp...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Iron Metabolism and Disorders
• Share to Trace Elements in Health