eISSN: 1897-4317
ISSN: 1895-5770
Gastroenterology Review/Przegląd Gastroenterologiczny
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SCImago Journal & Country Rank
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
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:

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

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