Successful allogeneic hematopoietic stem cell transplantation in a child with transfusion-dependent pyridoxine refractory hereditary sideroblastic anaemia

Abstract

We report a case of pyridoxine refractory, hereditary sideroblastic anaemia (HSA) in a 23 months old girl who underwent bone marrow stem cell transplantation (BMSCT) from his 28-year-old HLA‐identical maternal uncle. By using short tandem repeat polymorphism, 95% donor cells were observed in peripheral blood on day +15, +30, +90 and until the present time; the patient did not develop any significant graft‐versus‐host disease or other transplant complications. One year after transplantation, the patient has a Lansky score1 of 100, with a normal cell blood count (CBC).