Case Reports in Pediatrics / 2013 / Article / Fig 1

Case Report

The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

Figure 1

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.
806034.fig.001

Article of the Year Award: Outstanding research contributions of 2020, as selected by our Chief Editors. Read the winning articles.