Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia

Abstract

Summary. We report on a case of pyridoxine refractory hereditary sideroblastic anaemia (HSA) in a 19-year-old man who underwent peripheral blood stem cell transplantation (PBSCT) from his HLA-identical brother. By using short tandem repeat polymorphism, 100% donor cells were observed in peripheral blood on day 121; bone marrow showed mixed chimaerism from day 121 to day 1221, when 100% cells of donor origin were observed. The patient developed extensive chronic graft-versus-host disease with favourable response to treatment. When the haemoglobin range was normal, a programme of phlebotomies reduced serum ferritin levels. Three years after transplantation, the patient has an ECOG rating of 0, with completely normal haemoglobin values (15 g/dl). To our knowledge, this is the first PBSCT reported in a case of hereditary sideroblastic anaemia.

Congenital sideroblastic anaemia successfully treated using allogeneic stem cell transplantation

“…The patient engrafted and maintained his graft 3 years post SCT. Similarly, González et al (2000) reported a successful peripheral stem cell transplant in a 19‐year‐old man with SA, conditioning was with busulphan and cyclophosphamide, the patient engrafted, and is alive and well 3 years post SCT.…”

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

“…The major consideration in this procedure is to provide effective immunosuppression while creating a sufficient degree of donor bone marrow engraftment. Among the previously described six patients with CSA of undefined cause who were treated with HSCT, five received myeloablative conditioning with busulfan and cyclophosphamide +/− antithymocyte globulin (ATG) as the preparative regimen . One patient, who could not receive conventional myeloablative conditioning due to underlying comorbidities, received fludarabine, low‐dose total body irradiation, and ATG .…”

“…For severe, transfusion‐dependent sideroblastic anemia, treatment with hematopoietic stem cell transplantation (HSCT) had been reported in the limited number of six cases with apparent CSA although their molecular basis was not known . More recently, a few anecdotal cases having identified molecular defects in SLC25A38 who were treated with HSCT were briefly annotated .…”

“…For severe, transfusion-dependent sideroblastic anemia, treatment with hematopoietic stem cell transplantation (HSCT) had been reported in the limited number of six cases with apparent CSA although their molecular basis was not known. [3][4][5][6] More recently, a few anecdotal cases having identified molecular defects in SLC25A38 who were treated with HSCT were briefly annotated. 7,8 Here, we describe a patient with CSA associated with novel mutations in the SLC25A38 gene and her treatment with HSCT using a novel preparative regimen consisting of busulfan, fludarabine, and alemtuzumab with the aim to reduce toxicity.…”

Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation

“…10 Others have reported similar successful cases. 11,12 More recently, Iolascon et al 13 reported successful stem cell transplantation in one case of severe, type II congenital dyserythropoietic anemia.…”