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

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Tác giả: Murat Erdogan

Ngôn ngữ: eng

Ký hiệu phân loại: 658.32259 Personnel management (Human resource management)

Thông tin xuất bản: England : Ophthalmic genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 643633

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 ( CASE PRESENTATION: In this study, we performed sequence analysis of the ferritin L-chain ( 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.
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