Haematologica 2018 03 29() pii 10.3324/haematol.2017.183467
In this retrospective study, we evaluate long-term complications in nearly all β-thalassemia-major patients who successfully received, in France, allogeneic hematopoietic stem cell transplantation. 99 patients were analysed with a median age of 5.9 years at transplantation. The median duration of clinical follow-up was 12 years. All conditioning regimen were myeloablative, most often based on busulfan combined with cyclophosphamide and more than 90% of patients underwent a transplant from a matched sibling donor. After transplantation, 11% of patients developed thyroid dysfunction, 5% diabetes and 2% heart failure. Hypogonadism was present in 56% of females and 14% of males. Female patients who developed normal puberty after transplant were significantly younger at transplantation than those who experienced delayed puberty (median age 2.5 versus 8.7 years). Fertility was preserved in 9/27 females aged 20 and above and 2 other patients became pregnant following oocyte donation. In addition to patient’s age and higher serum ferritin levels at transplantation, time elapsed since transplant was significantly associated with decreased height growth in multivariate analysis. Weight growth increased after transplantation particularly in females, 36% of adults being overweight at last evaluation. A comprehensive long-term monitoring especially of endocrine late-effects is required after hematopoietic stem cell transplantation for thalassemia.