Response To Can Modifier Gene Mutations Improve The Predictive Value Of The Modified Iron Avidity Index In Type 1 Hereditary Haemochromatosis?

Hereditary Haemochromatosis (HH) is a genetically determined pathology characterized by iron overload. Commonly, biochemical presentation is elevated serum ferritin (SF), increased serum iron (SI) and transferrin saturation (TS%) >45%. HH was divided into four typologies approximately 10 years ago. Type1 HH is the most common genetic disorder, and is caused principally by the homozygous mutation p.C282Y of HFE protein [1]. The penetrance of type 1 HH is incomplete and the differences in clinical manifestations are probably justified by both environmental and genetic factors, which has been analyzed in numerous publications in recent years [2]. This article is protected by copyright. All rights reserved.