The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

Abstract

Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H63D mutation in the younger and heterozygosity in the elder… (More)
DOI: 10.1155/2013/806034

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@inproceedings{Perruccio2013TheHH, title={The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families}, author={Katia Perruccio and Francesco Arcioni and Carla Cerri and Roberta La Starza and Donatella Romanelli and Ilaria Capolsini and Maurizio Caniglia}, booktitle={Case reports in pediatrics}, year={2013} }