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Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis

¹ Clinical Genetics Service, City Hospital, Nottingham
² Departments of Medicine and Gastroenterology, Newark Hospital, Newark

Correspondence to:
Correspondence to:
Dr Mohnish Suri
Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK; mohnishsuri{at}hotmail.com

ABSTRACT
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence of iron overload, and in the absence of mutations in the HFE gene. Awareness of this condition prevents unnecessary liver biopsies and allows accurate genetic counselling since HHCS is an autosomal dominant disorder. The danger of treating these patients by phlebotomy in the same manner as those with hereditary haemochromatosis is highlighted.

Keywords: hereditary hyperferritinaemia-cataract syndrome; hereditary haemochromatosis

Abbreviations: HHCS, hyperferritinaemia-cataract syndrome; IRE, iron responsive element; IRP, iron regulatory protein