eprintid: 20152
rev_number: 15
eprint_status: archive
userid: 1589
dir: disk0/00/02/01/52
datestamp: 2016-02-23 12:57:01
lastmod: 2024-02-01 05:15:03
status_changed: 2016-02-23 12:57:01
type: article
metadata_visibility: show
creators_name: Millonig, Gunda
creators_name: Muckenthaler, Martina U.
creators_name: Mueller, Sebastian
title: Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder
subjects: 610
divisions: 850800
divisions: 910500
abstract: The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin deposits in the lens and its pulverulent aspect is pathognomonic. The syndrome is caused by mutations within the iron-responsive element of L-ferritin. These mutations prevent efficient binding of iron regulatory proteins 1 and 2 to the IRE in L-ferritin mRNA, resulting in an unleashed ferritin translation. This paper reviews all 31 mutations (27 single nucleotide transitions and four deletions) that have been described since 1995. Laboratory test showing hyperferritinaemia, normal serum iron and normal transferrin saturation are indicative for HHCS after exclusion of other causes of increased ferritin levels (inflammation, malignancy, alcoholic liver disease) and should prompt an ophthalmological consultation for diagnostic confirmation. Invasive diagnostics such as liver biopsy are not indicated. HHCS is an important differential diagnosis of hyperferritinaemia. Haematologists, gastroenterologists and ophthalmologists should be aware of this syndrome to spare patients from further invasive diagnosis (liver biopsy), and also from a false diagnosis of hereditary haemochromatosis followed by venesections. Patients diagnosed with HHCS should be counselled regarding the relative harmlessness of this genetic disease, with early cataract surgery as the only clinical consequence.
date: 2010-04
publisher: Henry Stewart Publications
id_scheme: DOI
ppn_swb: 1655994220
own_urn: urn:nbn:de:bsz:16-heidok-201525
language: eng
bibsort: MILLONIGGUHYPERFERRI201004
full_text_status: public
publication: Human genomics
volume: 4
number: 4
place_of_pub: London [u.a.]
pagerange: 250-262
issn: 1479-7364
citation:   Millonig, Gunda ; Muckenthaler, Martina U. ; Mueller, Sebastian  (2010) Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.  Human genomics, 4 (4).  pp. 250-262.  ISSN 1479-7364     
document_url: https://archiv.ub.uni-heidelberg.de/volltextserver/20152/1/40246_2009_Article_245.pdf