Impact of β-Globin Mutations on Outcome of Matched Related Donor Hematopoietic Stem Cell Transplantation for Patients with β-Thalassemia Major

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