In this paper we described the first Polish patient with ferroportin disease. Hereditary haemochromatosis (HH) is a condition associated with universal iron overload, and it is divided into four types, according to the Online Mendelian Inheritance in Man (OMIM) database. Ferroportin disease represented a rare type of HH, with autosomal dominant trait of inheritance. In our patient we detected a novel mutation in the ferroportin gene, with non-classical phenotype.
Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene / Raszeja Wyszomirska, Joanna; Caleffi, Angela; Milkiewicz, Piotr; Pietrangelo, Antonello. - In: PRZEGLAD GASTROENTEROLOGICZNY. - ISSN 1895-5770. - 9:5(2014), pp. 307-309. [10.5114/pg.2014.46167]
Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene
PIETRANGELO, Antonello
2014
Abstract
In this paper we described the first Polish patient with ferroportin disease. Hereditary haemochromatosis (HH) is a condition associated with universal iron overload, and it is divided into four types, according to the Online Mendelian Inheritance in Man (OMIM) database. Ferroportin disease represented a rare type of HH, with autosomal dominant trait of inheritance. In our patient we detected a novel mutation in the ferroportin gene, with non-classical phenotype.
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