Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history.

INTRODUCTION: Hereditary Hyperferritinemia-Cataract Syndrome (HHCS, MIM #600886) is a rare autosomal dominant genetic disorder characterized by elevated serum ferritin levels and early-onset cataracts. This condition is caused by mutations in the iron-responsive element (IRE) within the 5' untranslated region (UTR) of the ferritin light chain (FTL, *134790) gene. In this study, we report a case involving elevated ferritin levels and a history of cataracts associated with a novel variant in the FTL gene, in the absence of any familial history of the disease.

CASE PRESENTATION: In this study, we performed sequence analysis of the ferritin L-chain (FTL) gene in a 61-year-old female patient and her family. The patient history of bilateral cataract from a young age and was later found to have elevated ferritin levels. Mutation analysis identified an unreported deletion insertion (delins) variant in the FTL gene.

CONCLUSION: Genetic factors, while rare, are a significant cause of hyperferritinemia. In cases where hyperferritinemia is accompanied by early-onset cataracts, genetic etiologies should be considered. Multidisciplinary evaluation of patients can help avoid unnecessary treatments and improve quality of life through timely interventions.