Ferroportin disease due to the A77D mutation in Australia

The raised serum ferritin level was initially attributed to viral illness. Because transferrin saturation and HFE genotype were normal, a diagnosis of iron overload was not initially considered. [...]we report the first identification of ferroportin disease caused by the A77D mutation in a region ou...

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Bibliographic Details
Published inGut Vol. 54; no. 7; pp. 1048 - 1049
Main Authors Subramaniam, V N, Wallace, D F, Dixon, J L, Fletcher, L M, Crawford, D H
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd and British Society of Gastroenterology 01.07.2005
BMJ Publishing Group LTD
Copyright 2005 by Gut
Subjects
Australia
autosomal dominant
Biopsy
Cation Transport Proteins - genetics
Female
ferroportin disease
haemochromatosis
Hemochromatosis - genetics
Hemoglobin
Hepatitis
Humans
iron overload
Letter
Liver
Male
Medical research
Mutation
Pedigree
Australia
Italy
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Summary:The raised serum ferritin level was initially attributed to viral illness. Because transferrin saturation and HFE genotype were normal, a diagnosis of iron overload was not initially considered. [...]we report the first identification of ferroportin disease caused by the A77D mutation in a region outside of Italy.
Bibliography:istex:A9073BE276F1AF3645F4873A02071B2911431447
ark:/67375/NVC-7B2NC72R-6
Correspondence to:
 Dr V N Subramaniam
 Membrane Transport Laboratory, Queensland Institute of Medical Research, 300 Herston Rd, Herston, Brisbane, QLD 4006, Australia; nathanS@qimr.edu.au
PMID:15951560
local:0541048
href:gutjnl-54-1048.pdf
Conflict of interest: None declared.
Correspondence to: …Dr V N Subramaniam …Membrane Transport Laboratory, Queensland Institute of Medical Research, 300 Herston Rd, Herston, Brisbane, QLD 4006, Australia; nathanS@qimr.edu.au
ISSN:0017-5749
1468-3288
1458-3288
DOI:10.1136/gut.2005.069021