Almost 20 different mutations have been described in the IRE of the L-ferritin gene. Heterozygous point mutations in the 5′ region of the L-ferritin gene account for the majority of the mutations with the exception of three deletion mutations (from two-base pair to 28-base pair deletions). We set out to determine whether the family in the present study had a mutation in the IRE.
The proband (III-5) (Figure 1) was a 22-year-old woman who was initially found to have an elevated ferritin level of 1296 pg/L on bloodwork drawn during an episode of infectious mononucleosis at 16 years of age. She was referred to the hepa-tology clinic for further assessment of this persistent elevated ferritin. Aside from hyperferritinemia, her iron studies were otherwise normal. Her serum iron was 35.6 pg/mL and transferrin saturation was 45%. Workup included genetic testing for hemochromatosis which was negative for both the C282Y and H63D mutations of the hemochromatosis gene. A liver biopsy did not show evidence of iron overload with no stainable iron and a normal liver iron concentration of 5.4 pmol/g (normal 0 pmol/g to 35 pmol/g dry weight). For six years, she was noted to have a serum ferritin greater than 1000 pg/L.
Figure 1) Pedigree of family with hereditary hyperferritinemia cataract syndrome. The eight individuals in this study were: II:1, III:2, III:3, III:5, III:10, IV:2, IV:3, IV:4. Solid shapes: individuals with cataracts; squares: men; circles: women; slash: deceased; arrow: proband
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Category: L-ferritin gene
Tags: Cataracts, Hyperferritinemia, Iron-responsive element, L-ferritin