β‐Thalassemia in childhood: Current state of health in a high‐income country

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.

Good engraftment after reduced intensity targeted busulfan‐based conditioning and matched related donor hematopoietic cell transplantation in hemoglobinopathies

“…With early diagnosis, regular red cell transfusions, and continuous iron chelation therapy, TDT can be relatively well controlled. However, the risk of iron overload and complications from blood transfusions persist, especially in children with insufficient transfusion and/or chelation supplies or compliance 7 …”

“…However, the risk of iron overload and complications from blood transfusions persist, especially in children with insufficient transfusion and/or chelation supplies or compliance. 7 At present, hematopoietic cell transplantation (HCT) is the only treatment approach that has been proven to effectively cure TDT and SCD. [8][9][10] Gene therapy approaches are in advanced development, [11][12][13] and are increasingly available in more and more centers worldwide.…”

Pubertal development of transfusion-dependent thalassemia patients in the era of oral chelation with deferasirox: results from the French registry.

“…The French National Thalassemia Registry (NaThalY) has recently initiated a study on the health status of TDT children aged <15 years, mostly (80%) under deferasirox (DFX) therapy, reporting an excellent probability of survival (98.3%) and a very low rate of iron-related complications. 8 In the context of the global improvement in endocrinopathies already described under DFX, 9 here we report the remaining pubertal disorders and hypogonadism in TDT adolescents and young adults included in the French Thalassemia Registry who received oral chelation with DFX before puberty onset. This study respects the French ethical rules.…”