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Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia–cataract syndrome reveals novel and de novo mutations
Author(s) -
McLeod Janet L.,
Craig Jamie,
Gumley Sarah,
Roberts Sarah,
Kirkland Mark A.
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03690.x
Subject(s) - pedigree chart , mutation , ferritin , genetics , medicine , gene , biology , pathology
Summary. Hereditary hyperferritinaemia–cataract syndrome (HHCS) (OMIM #600886) is a rare autosomal dominant condition identified by high serum ferritin levels with normal iron saturation and distinctive bilateral cataract. It may be misdiagnosed as haemochromatosis and such patients become anaemic as a result of inappropriate venesection. The elevated serum ferritin is due to a mutation in the iron‐responsive element (IRE) of the l ‐ferritin gene, resulting in excessive l ‐ferritin production. We report the identification of three Australian pedigrees; one with a previously described mutation at position 40, a pedigree with a novel mutation at position 39 and an individual with a de novo mutation at position 32 of the l ‐ferritin IRE.