Haema 2016; 7(3): 305-315
by George Papanikolaou
School of Health Science and Education, Department of Nutrition and Dietetics, Harokopio University
Abstract
Hereditary hemochromotasis (H.H.) is a genetically heterogeneous disease characterized by increased iron absorption and tissue iron deposition due to mutations in genes participating in the regulation of hepcidin secretion or its receptor, ferroportin. Over the last 15 years the genetic basis of H.H. has been elucidated, allowing for an accurate genetic diagnosis for the majority of the cases. The majority of H.H. patients of northern European origin are homozygous for the C282Y mutation of the HFE gene. H.H. is a rare disease in Greece and many cases are attributed to mutations of the HJV gene associated with the severe Juvenile Hemochromatosis (J.H.) phenotype. The treatment of H.H. patients is based on phlebotomy, for removal of iron excess. τhis communication reviews the pathophysiology and genetics of H.H. along with the principles of the diagnostic evaluation and therapy.