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

Autor: Corti P; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Ferrari GM; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Faraguna MC; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Residency in Pediatrics, University of Milano Bicocca, Milan, Italy., Capitoli G; Bicocca Bioinformatics Biostatistics and Bioimaging B4 Center, Department of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy., Longo F; Thalassemia Reference Centre, Orbassano, Italy.; Regional HUB Centre for Thalassaemia and Haemoglobinopathies, Department of Medicine, AOU S. Anna, Ferrara, Italy., Corradini E; Internal Medicine Unit and Centre for Hemochromatosis and Hereditary Liver Diseases, ERN-EuroBloodNet and ERN-RARE-LIVER, Azienda Ospedaliero-Universitaria di Modena-Policlinico, Modena, Italy., Casini T; Pediatric Hematology/Oncology Department, Meyer's Children University Hospital, Firenze, Italy., Boscarol G; Department of Pediatrics, Central Teaching Hospital, Bolzano, Italy., Pinto VM; Centro della Microcitemia e delle Anemie Congenite, Ospedale Galliera, Genova, Italy., Ghilardi R; Department of Pediatrics, Ospedale Maggiore Policlinico, IRCCS, Milano, Italy., Russo G; Pediatric Hematology and Oncology Unit, Azienda Policlinico 'Rodolico-San Marco', University of Catania, Catania, Italy., Colombatti R; Pediatric Hematology Oncology and Bone Marrow Transplantation Unit, Department of Woman's and Child's Health, University of Padova, Padova, Italy., Mariani R; SSD Rare Diseases-European Reference Network for Rare Hematological Diseases-EuroBloodNet-Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Piperno A; SSD Rare Diseases-European Reference Network for Rare Hematological Diseases-EuroBloodNet-Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Centro Ricerca Tettamanti, Monza, Italy.
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 2024 Jan; Vol. 204 (1), pp. 306-314. Date of Electronic Publication: 2023 Nov 21.
DOI: 10.1111/bjh.19208
Abstrakt: 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. Transferrin saturation was significantly higher in TFR2- and HJV-HC compared to HFE-HC, and serum ferritin and LIC were higher in HJV-HC compared to TFR2- and HFE-HC. Most HFE-HC subjects had relatively low ferritin and LIC at the time of diagnosis, so therapy could be postponed for most of them after the age of 18. Our results confirm that HJV-HC is a severe form already in childhood, emphasizing the importance of early diagnosis and treatment to avoid the development of organ damage and reduce morbidity and mortality. Although phlebotomies were tolerated by most patients, oral iron chelators could be a valid option in early-onset HC.
(© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.)
Databáze: MEDLINE
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