Hereditary hemochromatosis: genetics, pathogenesis, and clinical management.
Recent findings have led to major advances in our understanding of genetics and pathophysiology of hereditary hemochromatosis. Many crucial genes and molecules have come to light, and the complex interrelationships between them are being studied. However, several questions still remain unanswered. Availability of genotyping has changed the approach to diagnosis, and serum markers hold promise for prognostication. However, the effectiveness of population screening continues to be an area of controversy.Finally, there is a promise of development of newer therapeutic modalities based on our understanding of the mechanism of iron absorption. In this review, we describe the current state of understanding in the clinical features, pathophysiology and treatment of hereditary hemochromatosis.
Alexander
Jacob
J
University of Washington, Seattle 98195, USA.
Kowdley
Kris V
KV
D023181:Antimicrobial Cationic Peptides / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D058851:GPI-Linked Proteins; D006432:Hemochromatosis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D011990:Receptors, Transferrin / Q000235:genetics; D000098742:Ferroportin
D023181:Antimicrobial Cationic Peptides; D027682:Cation Transport Proteins; D058851:GPI-Linked Proteins; C103673:HFE protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D000098742:Ferroportin