The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

• Main Authors: Katia Perruccio (Author), Francesco Arcioni (Author), Carla Cerri (Author), Roberta La Starza (Author), Donatella Romanelli (Author), Ilaria Capolsini (Author), Maurizio Caniglia (Author)
• Format: Book
• Published: Hindawi Limited, 2013-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 H...