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

Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

Open access

5/2014
vol. 9

Send email

Copy url:

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

View full text Get citation

PlumX metrics:

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