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

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 represen...

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Autores principales: Raszeja-Wyszomirska, Joanna, Caleffi, Angela, Milkiewicz, Piotr, Pietrangelo, Antonello
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223120/
https://www.ncbi.nlm.nih.gov/pubmed/25396007
http://dx.doi.org/10.5114/pg.2014.46167
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author Raszeja-Wyszomirska, Joanna
Caleffi, Angela
Milkiewicz, Piotr
Pietrangelo, Antonello
author_facet Raszeja-Wyszomirska, Joanna
Caleffi, Angela
Milkiewicz, Piotr
Pietrangelo, Antonello
author_sort Raszeja-Wyszomirska, Joanna
collection PubMed
description 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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spelling pubmed-42231202014-11-13 Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene Raszeja-Wyszomirska, Joanna Caleffi, Angela Milkiewicz, Piotr Pietrangelo, Antonello Prz Gastroenterol Case Report 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. Termedia Publishing House 2014-10-19 2014 /pmc/articles/PMC4223120/ /pubmed/25396007 http://dx.doi.org/10.5114/pg.2014.46167 Text en Copyright © 2014 Termedia http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial 3.0 Unported License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Raszeja-Wyszomirska, Joanna
Caleffi, Angela
Milkiewicz, Piotr
Pietrangelo, Antonello
Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene
title Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene
title_full Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene
title_fullStr Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene
title_full_unstemmed Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene
title_short Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene
title_sort ferroportin-related haemochromatosis associated with novel y64h mutation of the scl40a1 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223120/
https://www.ncbi.nlm.nih.gov/pubmed/25396007
http://dx.doi.org/10.5114/pg.2014.46167
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