Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene

Joanna Raszeja-Wyszomirska; Angela Caleffi; Piotr Milkiewicz; Antonello Pietrangelo

doi:10.5114/pg.2014.46167

eISSN: 1897-4317
ISSN: 1895-5770

Gastroenterology Review/Przegląd Gastroenterologiczny

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5/2014
vol. 9

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abstract:

Case report

Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene

Joanna Raszeja-Wyszomirska

,

Angela Caleffi

,

Piotr Milkiewicz

,

Antonello Pietrangelo

Prz Gastroenterol 2014; 9 (5): 307–309

DOI: https://doi.org/10.5114/pg.2014.46167

Online publish date: 2014/10/19

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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.

keywords:

Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene

Joanna Raszeja-Wyszomirska , Angela Caleffi , Piotr Milkiewicz , Antonello Pietrangelo

haemochromatosis, ferroportin disease, non-classical form, liver cirrhosis, c190T>C mutation

Joanna Raszeja-Wyszomirska

,

Angela Caleffi

,

Piotr Milkiewicz

,

Antonello Pietrangelo