Article
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
Blood cells, molecules & diseases - 1 Jun 2015
Radio Francesca Clementina, Majore Silvia, Aurizi Caterina, Sorge Fiammetta, Biolcati Gianfranco, Bernabini Sara, Giotti Irene, Torricelli Francesca, Giannarelli Diana, De Bernardo Carmelilia, Grammatico Paola
Abstract excerpt
Hereditary hemochromatosis (HH) is a heterogeneous disorder of iron metabolism. The most common form of the disease is Classic or type 1 HH, mainly caused by a biallelic missense p.Cys282Tyr (c.845G>A) mutation in the HFE gene. However, the penetrance of p.Cys282Tyr/p.Cys282Tyr genotype is incomplete in terms of both biochemical and clinical expressivity. Lack of penetrance is thought to be caused by several...
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