Β‐Thalassemia in childhood: Current state of health in a high‐income country. (6th January 2023)

• Record Type: Journal Article
• Authors: Donze, Caroline; Benoit, Audrey; Thuret, Isabelle; Faust, Cindy; Gauthier, Alexandra; Berbis, Julie; Badens, Catherine; Brousse, Valentine
• Other Names: Kokou‐Placide Agbo‐Kpati investigator.; Slimane Allali investigator.; Sophie Bayart investigator.; Marie Belloy investigator.; Malika Benkerrou investigator.; Claire Berger investigator.; Yves Bertrand investigator.; Jacinthe Bonneau investigator.; Jean‐François Brasme investigator.; Valentine Brousse investigator.; Marie‐Pierre Castex investigator.; Colette Chalem investigator.; Fanny Chambon investigator.; Abdourahim Chamouine investigator.; Benedicte Collet investigator.; Mohamed Conde investigator.; Audrey David investigator.; Marianne De Montalembert investigator.; Aurélie Desbree investigator.; Jean Donadieu investigator.; Fabienne Dulieu investigator.; Cecile Dumesnil investigator.; Stephanie Eyssette investigator.; Bruno Filhon investigator.; Claire Galambrun investigator.; Nathalie Garnier investigator.; Alexandra Gauthier investigator.; Fanny Gonzales investigator.; Stephanie Gourdon investigator.; Corinne Guitton investigator.; Laurent Holvoet investigator.; Yoann Huguenin investigator.; Ghislaine Ithier investigator.; Charlotte Jubert investigator.; Annie Kamdem investigator.; Kamila Kebaili investigator.; Julie Lachenaud investigator.; Muriel Lalande investigator.; Anne Lambilliotte investigator.; Guy Leverger investigator.; Te Valérie Li Thiao investigator.; Laurence Lutz investigator.; Perrine Mahe investigator.; Aurore Malric investigator.; Caroline Masserot‐Lureau investigator.; Catherine Mathey investigator.; Aix CH investigator.; Gerard Michel investigator.; Florence Missud investigator.; Fabrice Monpoux investigator.; Despina Moshous investigator.; Matias Muszlak investigator.; Benedicte Neven investigator.; Marie‐Helene Odievre investigator.; Catherine Paillard investigator.; Sophie Pertuisel investigator.; Aurélie Phulpin investigator.; Christophe Piguet investigator.; Geneviève Plat‐Wilson investigator.; Claire Pluchart investigator.; Cécile Pochon investigator.; Maryline Poiree investigator.; Corinne Pondarre investigator.; Yves Reguerre investigator.; Cécile Renard investigator.; Alexandra Salmon investigator.; Paul Saultier investigator.; Helene See investigator.; Pauline Simon investigator.; Bertrand Soto investigator.; Alexandra Spiegel investigator.; Jean‐Louis Stephan investigator.; Cecile Stoven investigator.; Mélissa Taylor investigator.; Isabelle Thuret investigator.; Karima Yakouben investigator.; Marion Yvert investigator.; Ferielle Zenchri investigator.;
• Is Part Of: British journal of haematology. Volume 201:Number 2(2023)
• Page Start: 334
• Page End: 342
• Publication Date: 2023-01-06
• Subjects: childhood -- complications -- epidemiology -- health status -- β‐Thalassemia; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.18631
• Languages: English
• ISSNs: 0007-1048

Abstract

Summary: β‐thalassemia is an haemoglobinopathy characterized by a defective synthesis of the β‐globin chain. To assess the current state of health of paediatric patients with β‐thalassemia, data from the French national registry regarding children born between 2005 and 2020 with β‐thalassemia intermedia (TI) or major (TM) were collected. A total of 237 patients (median age 7.1 years at last visit) were analysed, of whom 156 (65.8%) were born in France and 162 (68.4%) had a TM phenotype. The probability of survival for children with TM born in France was 98.3% at 15 years. Fifty‐four (22.8%) children received a haematopoietic stem cell transplant with a success rate of 88.8%. Hepatic and cardiac iron overload monitoring in non‐transplanted patients showed moderate overload in 15.7% (18/115) and 7.1% (7/99) of cases, respectively, while clinical complications were found in only 4 patients with TM (hepatic in 3 cases). At last visit, mean ferritinemia was 1293 ng/ml (±759). Overall, less than 10% of children underwent splenectomy. No significant impact of the disease on growth or academic achievement was observed. Deferasirox was the main first‐line chelator, prescribed in 78.2% of cases, with side effects reported in 11.7% of instances.