Point mutations and deletions of the L ferritin iron responsive element found in this study. (A) Point mutations found in this study are shown on the nucleotide sequence of the human L ferritin mRNA region corresponding to the iron responsive element. The number of unrelated patients carrying the same point mutation is indicated in parentheses. Numbering of the nucleotide is from the cap site of the mRNA. (B) Pedigrees of the 2 families in which a partial deletion of the IRE has been found are shown, and the nucleotides deleted in each family are boxed on the IRE sequence. Black symbols denote the presence of cataract. Numbers indicate serum ferritin values in μg/L and the arrow indicates the proband.