Hereditary hyperferritinaemia-cataract syndrome

Definition:

Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin accumulation in the lens. HHCS is caused by mutations in the iron responsive element (IRE) of the L-ferritin gene.

References:

[1]. D Girelli, et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. Br J Haematol. 2001 Nov;115(2):334-40. [Content Brief]

[2]. Muriel Giansily-Blaizot, et al. Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. Haematologica. 2013 Apr;98(4):e42-3. [Content Brief]

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