Article
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
American journal of hematology - 1 Jun 2016
Badar Sadaf, Busti Fabiana, Ferrarini Alberto, Xumerle Luciano, Bozzini Paolo, Capelli Paola, Pozzi-Mucelli Roberto, Campostrini Natascia, De Matteis Giovanna, Marin Vargas Sergio, Giorgetti Alejandro, Delledonne Massimo, Olivieri Oliviero, Girelli Domenico
Abstract excerpt
Hereditary hemochromatosis, one of the commonest genetic disorder in Caucasians, is mainly associated to homozygosity for the C282Y mutation in the HFE gene, which is highly prevalent (allele frequency up to near 10% in Northern Europe) and easily detectable through a widely available "first level" molecular test. However, in certain geographical regions like the Mediterranean area, up to 30% of patients with a...
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