Abstract

DEL-CASTILLO-RUEDA, Alejandro et al. Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis. Rev. esp. enferm. dig. [online]. 2011, vol.103, n.7, pp.379-382. ISSN 1130-0108.  https://dx.doi.org/10.4321/S1130-01082011000700010.

Iron overload disease has a wide variety of genotypes. The genetic study of this disease confirms its hereditary nature and enables us to provide genetic counseling for first-degree relatives. We performed magnetic resonance imaging and liver biopsy in an asymptomatic patient with more than 1,000 µg/L of serum ferritin and studied the genes involved in this condition. The phenotype of iron overload is confirmed by a predominantly periportal pattern of iron deposits in the liver suggestive of genetic disease. In the case we present the molecular study revealed a double heterozygosity for the mutations c.187C>G (p.H63D) and c.840C>G (p.F280L) in the HFE and transferrin receptor 2 (TFR2) genes, respectively.

Keywords : Hemochromatosis; HFE; Transferrin receptor 2.

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