Abstract: Objective　To explore therapeutic effect of hematopoietic stem cell transplantation for severe β-thalassemia with limb-girdle muscular dystrophy (LGMD). Methods　The therapeutic process of a case of severe β-thalassemia (CD17 homozygous mutation) with LGMD2E treated by HLA-matched hematopoietic stem cell transplantation was analyzed retrospectively. Results　The child was a girl aged 3 years and 5 months. The donor was her sister. The conditioning regimen consisted of fludarabine, busulfan, cyclophosphamide, and anti-human thymocyte immunoglobulin. The graft-versus-host disease (GVHD) prophylaxis consisted of cyclosporine, mycophenolate mofetil and short-term methotrexate. The stem cells (406 mL donor bone marrow) were intravenously infused into the patient, and the number of mononuclear cells was 11.3×108/kg. Blood routine, engraftment evidence, and kinase level were detected after transplantation. After hematopoietic stem cell transplantation, the child had reconstructed hematopoietic and immune function, and the data suggested complete donor chimerism, with a chimerism rate of 100%. However, there was no significant decrease in serum enzyme, and serum creatine kinase maintained at 20 000~25 000 IU/L. The strength of the limbs was gradually decreasing. Recently, the muscle strength of both lower limbs was grade 3~4, and that of both upper limbs was grade 4, making the child prone to falling. Conclusion　Allogeneic hematopoietic stem cell transplantation can cure thalassemia in children, but it does not improve the symptoms of muscular dystrophy.

Key words: 　thalassemia;　limb-girdle muscular dystrophy;　transplantation