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Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.
Yang Y, Lin T, Kuang P, Chen X. Yang Y, et al. Hematology. 2021 Dec;26(1):896-903. doi: 10.1080/16078454.2021.1995111. Hematology. 2021. PMID: 34789084 Free article. Review.
ABSTRACTObjectives: Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disease characterized by high serum ferritin levels and juvenile bilateral cataracts. ...We also reviewed the FLT gene mutations in published HHCS cases to provide ex …
ABSTRACTObjectives: Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disease characterized by high ser …
Hereditary hyperferritinaemia-cataract syndrome (HHCS) - an underestimated condition: ferritin light chain variant spectrum in German families.
Volkmann M, Richter R, Herrmann T, Hentze S, Hör M, Hasche H, Selle B, Stremmel W, Gehrke SG. Volkmann M, et al. Clin Chem Lab Med. 2019 Nov 26;57(12):1837-1845. doi: 10.1515/cclm-2018-1354. Clin Chem Lab Med. 2019. PMID: 31211687
Methods In this study, six German families with putative HHCS were analysed. Clinical diagnosis of HHCS was based on medical history, evaluation of ferritin serum levels, transferrin saturation and clinical ophthalmological examination. ...Conclusions Family history …
Methods In this study, six German families with putative HHCS were analysed. Clinical diagnosis of HHCS was based on medical h …
Hyperferritinemia and non-HFE hemochromatosis: differential diagnosis and workup.
Lommaert E, Verlinden W, Duysburgh I, Holvoet T, Schouten J. Lommaert E, et al. Acta Gastroenterol Belg. 2023 Apr-Jun;86(2):356-359. doi: 10.51821/86.2.11249. Acta Gastroenterol Belg. 2023. PMID: 37428170 Free article.
In this paper we discuss two cases of rare hyperferritinemia associated disorders, ferroportin disease and hyperferritinemia-cataract syndrome. We also propose an algorithm for evaluating hyperferritinemia, facilitating a correct diagnosis and preventing pote …
In this paper we discuss two cases of rare hyperferritinemia associated disorders, ferroportin disease and hyperferritinemia-catar …
Clinical and Molecular Clues to Diagnosing Hereditary Hyperferritinemia-Cataract Syndrome: Case Report and Literature Review.
Ludikova B, Sochorcova L, Jaksic D, Hlusickova Kapralova K, Horvathova M. Ludikova B, et al. Genes (Basel). 2025 Nov 13;16(11):1381. doi: 10.3390/genes16111381. Genes (Basel). 2025. PMID: 41300832 Free PMC article. Review.
Background: Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare autosomal dominant disorder characterized by persistently elevated serum ferritin and early-onset bilateral cataracts in the absence of systemic iron overload. ...Beyond this c …
Background: Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare autosomal dominant disorder characte …
Síndrome hereditária hiperferritinemia-catarata: caso clínico.
Fernandes C, Diogo C, Malhó C, Alçada F, Campos S. Fernandes C, et al. Acta Med Port. 2025 May 2;38(5). doi: 10.20344/amp.22524. Epub 2025 Mar 14. Acta Med Port. 2025. PMID: 40085774 Free article.
Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder that is characterized by high serum ferritin levels without iron overload and early-onset cataracts. ...It is important to recognise hereditary hyperferritinemia- …
Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder that is characterized by high …
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.
Moravikova J, Honzik T, Jadvidzakova E, Zdrahalova K, Kremlikova Pourova R, Korbasova M, Liskova P, Dudakova L. Moravikova J, et al. J AAPOS. 2020 Dec;24(6):352.e1-352.e5. doi: 10.1016/j.jaapos.2020.07.014. Epub 2020 Nov 19. J AAPOS. 2020. PMID: 33221470
BACKGROUND: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder manifesting with high serum ferritin levels and the formation of early-onset cataracts, with numerous small opacities, predominantly in the lens cortex. …
BACKGROUND: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder manifesting …
Brazilian family with hyperferritinemia-cataract syndrome: case report.
Alvarenga AM, Silva NKD, Cançado RD, Carvalho LEMR, Santos PCJL. Alvarenga AM, et al. Einstein (Sao Paulo). 2022 Oct 24;20:eRC0076. doi: 10.31744/einstein_journal/2022RC0076. eCollection 2022. Einstein (Sao Paulo). 2022. PMID: 36287435 Free PMC article.
Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagno …
Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral catarac …
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.
Zin OA, Neves LM, Cunha DP, Motta FL, Agonigi BNS, Horovitz DDG, Almeida DC Jr, Malacarne J, Rodrigues APS, Carvalho AB, Rivello CA, Espariz R, Zin AA, Sallum JMF, Vasconcelos ZFM. Zin OA, et al. Int J Mol Sci. 2023 Jul 25;24(15):11876. doi: 10.3390/ijms241511876. Int J Mol Sci. 2023. PMID: 37569253 Free PMC article.
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the FTL gene. ...Whole-exome sequencing was performed in eight individuals with HHCS from three different …
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant dis …
Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G.
Balta B, Erdoğan M, Kiraz A, Korkmaz S, Ağadayı A. Balta B, et al. Turk J Haematol. 2019 Feb 7;36(1):25-28. doi: 10.4274/tjh.galenos.2018.2018.0194. Epub 2018 Nov 6. Turk J Haematol. 2019. PMID: 30401656 Free PMC article.
OBJECTIVE: Hyperferritinemia cataract syndrome (HFCS) is an autosomal dominantly inherited disease characterized by increased serum ferritin levels and bilateral cataract formation in the early period of life. ...
OBJECTIVE: Hyperferritinemia cataract syndrome (HFCS) is an autosomal dominantly inherited disease characterized by inc …
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Celma Nos F, Hernández G, Ferrer-Cortès X, Hernandez-Rodriguez I, Navarro-Almenzar B, Fuster JL, Bermúdez Cortés M, Pérez-Montero S, Tornador C, Sanchez M. Celma Nos F, et al. Int J Mol Sci. 2021 May 21;22(11):5451. doi: 10.3390/ijms22115451. Int J Mol Sci. 2021. PMID: 34064225 Free PMC article.
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. ...To illustrate this disease, we report two new families affe …
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin lev …
19 results