Hereditary hyperferritinaemia cataract syndrome

HHCS is an autosomal dominant disorder associated with a high serum ferritin concentration and the emergence of cataracts in early life. As with human ferroportin disease, HHCS is characterised by a normal serum iron concentration and transferrin saturation; also, ferruginous cataracts--rather than...

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Bibliographic Details
Published in:The Lancet (British edition) 2014-04, Vol.383 (9927), p.1520-1520
Main Authors: Bowes, Oliver, Dr, Baxter, Kim, PGCert, Elsey, Terry, BSc, Snead, Martin, MD, Cox, Timothy, FMedSci
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Cataract - congenital
Cataract - diagnosis
Cataract - genetics
Cataracts
Diagnosis, Differential
Eye surgery
Ferritins - blood
General aspects
Genetic disorders
Humans
Internal Medicine
Iron
Iron Metabolism Disorders - congenital
Iron Metabolism Disorders - diagnosis
Iron Metabolism Disorders - genetics
Male
Medical sciences
Mutation
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Description
Summary:HHCS is an autosomal dominant disorder associated with a high serum ferritin concentration and the emergence of cataracts in early life. As with human ferroportin disease, HHCS is characterised by a normal serum iron concentration and transferrin saturation; also, ferruginous cataracts--rather than systemic deposition of iron in the viscera--are present.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(14)60484-0