Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato‐Oncologia Pediatrica) study group

• Published in: British journal of haematology Vol. 204; no. 1; pp. 306 - 314
• Main Authors: Corti, Paola, Ferrari, Giulia Maria, Faraguna, Martha Caterina, Capitoli, Giulia, Longo, Filomena, Corradini, Elena, Casini, Tommaso, Boscarol, Gianluca, Pinto, Valeria Maria, Ghilardi, Roberta, Russo, Giovanna, Colombatti, Raffaella, Mariani, Raffaella, Piperno, Alberto
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.01.2024
• Subjects: Adult; Chelating agents; Child; Children; Diagnosis; Ferritin; Ferritins; Genetic disorders; Hematology; Hemochromatosis - diagnosis; Hemochromatosis - genetics; Hemochromatosis - therapy; Hemochromatosis Protein - genetics; Histocompatibility Antigens Class I - genetics; Humans; Iron Overload - genetics; Morbidity; Mutation; Pediatrics; Retrospective Studies; hyperferritinaemia; iron chelation; juvenile haemochromatosis; haemochromatosis; phlebotomy

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....