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Article

Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.

Hematology (Amsterdam, Netherlands) - 1 Dec 2021

Yang Yunfan, Lin Ting, Kuang Pu, Chen Xinchuan

Abstract excerpt

ABSTRACTObjectives: Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disease characterized by high serum ferritin levels and juvenile bilateral cataracts. It is often caused by mutations in the iron response element (IRE) of the ferritin L-subunit (FTL) gene. Here, we report a 73-year-old woman who presented to clinic with persistently elevated serum ferritin and family history of...

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Identifiers

PMID: 34789084
DOI: 10.1080/16078454.2021.1995111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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