RESUMEN
The clinical outcome of hematopoietic stem cell transplantation (HSCT) for patients with ß-thalassemia major (ß-TM) can be affected by several factors. We investigated the influence of ß-globin gene mutation in patients with ß-TM on the clinical outcome of HSCT and conducted a prospective study of consecutive ß-TM patients who underwent allogeneic HSCT at our center. Among 87 included patients, 62 (71%) had homozygous and 25 (29%) had compound heterozygous ß-globin gene mutations. Intervening sequence II-1 appeared to be the most common mutation, with an occurrence rate of 33% in ß-globin alleles. With a median follow-up of 12 months, the thalassemia-free survival and overall survival probabilities were 83% (standard error, 4%) and 90% (standard error, 3%), respectively. Overall survival was not found to be associated with the ß-globin gene mutation status, but thalassemia-free survival was significantly improved in patients with homozygous mutations compared with patients with compound heterozygous mutations in univariate (91.2% versus 64.0%, P = .009) and multivariable (hazard ratio, 3.83; P = .014) analyses. This is the first report on the impact of ß-globin mutation status on the outcome of ß-TM after allogeneic HSCT and helps to better illustrate the course and prognosis of ß-TM after transplantation.