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Raised serum ferritin concentration in hereditary hyperferritinaemia cataract syndrome is not a marker for iron overload.

Yin, D; Kulhalli, V; Walker, AP; (2014) Raised serum ferritin concentration in hereditary hyperferritinaemia cataract syndrome is not a marker for iron overload. Hepatology , 59 (3) pp. 1204-1206. 10.1002/hep.26681. Green open access

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Abstract

Hyperferritinaemia and bilateral cataracts are features of the rare hereditary hyperferritinaemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having haemochromatosis, in whom a heterozygous c.-160A>G mutation was identified in the iron responsive element (IRE) of FTL, causing ferritin synthesis in the absence of iron overload. This report demonstrates the need for clinical awareness of HHCS as a cause of hyperferritinaemia in the absence of iron overload and provides a possible diagnostic schema. (Hepatology 2013;).

Type: Article
Title: Raised serum ferritin concentration in hereditary hyperferritinaemia cataract syndrome is not a marker for iron overload.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/hep.26681
Publisher version: http://dx.doi.org/10.1002/hep.26681
Additional information: Copyright © 2014 The Authors. HEPATOLOGY published by Wiley on behalf of the American Association for the Study of Liver Diseases. This is an open access article under the terms of the Creative Commons Attribution NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Population Science and Experimental Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1406173
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