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

Br J Haematol. 2000 Jun;109(3):658-60. doi: 10.1046/j.1365-2141.2000.02050.x.

Abstract

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 +21; bone marrow showed mixed chimaerism from day +21 to day +221, 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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Sideroblastic / genetics*
  • Anemia, Sideroblastic / immunology
  • Anemia, Sideroblastic / therapy*
  • Blood Transfusion
  • Cyclosporine / therapeutic use
  • Follow-Up Studies
  • Graft vs Host Disease / immunology
  • HLA Antigens / immunology
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Male
  • Steroids / therapeutic use
  • Transplantation, Homologous

Substances

  • HLA Antigens
  • Immunosuppressive Agents
  • Steroids
  • Cyclosporine