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Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia
Author(s) -
González M. I.,
Caballero D.,
Vázquez L.,
Cañizo C.,
Hernández R.,
López C.,
Izarra A.,
Arroyo J. L.,
González M.,
García R.,
San Miguel J. F.
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2000.02050.x
Subject(s) - medicine , transplantation , stem cell , phlebotomy , gastroenterology , peripheral blood , pyridoxine , immunology , biology , genetics
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.

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