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Table 1 Clinical criteria of hyperferritinaemia-cataract syndrome.

From: Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder

• High and constant levels of serum ferritin unresponsive to iron depletion

• No signs of iron overload (normal soluble serum iron and transferrin saturation)

• Normal blood cell counts and normal transaminases

• Familial cataract with phenotypic pulverulent appearance

• No relevant clinical symptoms apart from visual impairment by cataract

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Human Genomics

ISSN: 1479-7364