Hereditary Hyperferritinaemia Cataract Syndrome: FTL Sequencing

Diagnostic Use

Hereditary hyperferritinaemia cataract syndrome is an autosomal dominant disorder caused by heterogeneous mutations on the iron-responsive element of ferritin L-chain subunit mRNA. The mutations abolish or reduce affinity with iron-regulatory-proteins and this determines a constitutive up-regulation of ferritin L-chain in serum and all tissues. The high accumulation of L-ferritin in serum and tissues has no effect on body iron but the aggregation of the protein in the lens is associated with early bilateral cataract onset. Sequencing the 5’ untranslated flanking region of ferritin L-chain DNA will be able to identify the mutation.


Genetics - Molecular Pathology

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Constituent Tests



Turnaround Time

4 weeks

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