Blood Transfusion - 6 2016 (November-December)
Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing
Authors:  Ludovica Ferbo, Paola M. Manzini, Sadaf Badar, Natascia Campostrini, Alberto Ferrarini, Massimo Delledonne, Tiziana Francisci, Valter Tassi, Adriano Valfrè, Anna M. Dall'Omo, Sergio D'Antico, Domenico Girelli, Antonella Roetto, Marco De Gobbi
Pages:  531-534
To cite this article:  Blood Transfus 2016; 14: 531-4
Doi:  10.2450/2016.0286-15
Published online:  28/04/2016

Hereditary haemochromatosis (HH) is a disorder characterised by increase of serum iron parameters and gradual iron accumulation in parenchymal organs. Since the discovery of the genetic defects of the most common form of hereditary haemochromatosis (type 1 haemochromatosis [HFE]), many observations have shown that not only rare/familial mutations in HFE can be present but also that mutations in other genes (transferrin receptor 2 [TFR2], hepcidin [HAMP], hemojuvelin [HJV], and ferroportin [SLC40A1]) can lead to rarer genetic forms of iron overload, referred as non-HFE haemochromatosis1. The genetic heterogeneity is particularly evident in the Italian population where only two-thirds of haemochromatosis patients are HFE C282Y homozygotes2, requiring expensive and time-consuming gene specific genotyping to define the molecular diagnosis. Therefore, 'second level' genetic tests should be developed for a rapid and simultaneous study of the haemochromatosis genes. [...]
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