The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families
Pedigree of the first family with the presence of hyperferritinemia and cataract, because of the C33T mutation of the L-ferritin IRE region and H63D mutation of HFE gene. Black squares indicate affected individuals (II: 1; III: 1; III: 2) with early onset of cataract, hyperferritinemia, and L-ferritin IRE mutation. Grey squares indicate individuals (I: 1; II: 2) with early onset of cataract but unavailable for ferritin study and mutational analysis; °members heterozygous for HFE-H63D genotype; ●members homozygous for HFE-H63D genotype.
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