Paola Corti, Giulia Maria Ferrari, Martha Caterina Faraguna, Giulia Capitoli, Filomena Longo, Elena Corradini, Tommaso Casini, Gianluca Boscarol, Valeria Maria Pinto, Roberta Ghilardi, Giovanna Russo, Raffaella Colombatti, Raffaella Mariani, Alberto Piperno
Haemochromatosis (HC) encompasses a range of genetic disorders. HFE-HC is by far the most common in adults, while non-HFE types are rare due to mutations of HJV, HAMP, TFR2 and gain-of-function mutations of SLC40A1. HC is often unknown to paediatricians as it is usually asymptomatic in childhood. We report clinical and biochemical data from 24 paediatric cases of HC (10 cases of HFE-, 5 TFR2-, 9 HJV-HC), with a median follow-up of 9.6 years. Unlike in the adult population, non-HFE-HC constitutes 58% (14/24) of the population in our series...
November 21, 2023: British Journal of Haematology