Article
Hereditary hemochromatosis: An update vision of the laboratory diagnosis.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) - 1 Jul 2023
Molina Claudia Abadía, Ros Nuria Goñi, Tarancón Ricardo González, Varas Luis Rello, Flores Valle Recasens, Álvarez Silvia Izquierdo
Abstract excerpt
Haemochromatosis (HC) is an inherited disorder of iron metabolism. The 85-90% of Hereditary hemochromatosis cases are caused by mutations in HFE gene (HC type 1). The remaining 10-15% of HC cases are caused by mutations in other non-HFE genes (HJV, HAMP, TRF2, SLC40A1, BMP6). The study of patients for the diagnosis of HC has an important laboratory approached: analysis of biochemical parameters and genetic...
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