A Novel Deletion In The Iron-Response Element Of The L-Ferritin Gene, Causing Hyperferritinaemia Cataract Syndrome

A 47-year-old woman, presenting to her family physician with fatigue, was incidentally found to have persistently elevated ferritin. There was clinically no suggestion of iron overload, and laboratory testing showed transferrin saturation at the low end of the reference range. After ruling out acquired causes of hyperferritinaemia, as well as laboratory interference, further questioning revealed a history of bilateral early-onset cataracts, allowing a diagnosis of hyperferritinaemia cataract syndrome to be made. DNA sequencing of the 5 untranslated region of the L-ferritin gene revealed a novel 4-base deletion in the iron response element, within a region known to be crucial for binding iron regulatory protein.