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Success of bone marrow transplantation in congenital Diamond‐Blackfan anaemia: A case report
Author(s) -
WiktorJedrzejczak Wieslaw,
Pojda Cezary Szczylik Zygmunt,
Kansy Maksymilian Siekierzynski Jerzy,
Klos Miroslaw,
Ratajczak Mariusz Z.,
Pejcz Jerzy,
Jaskulski Dariusz,
Gornas Pawel
Publication year - 1987
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1987.tb01163.x
Subject(s) - busulfan , medicine , diamond–blackfan anemia , cyclophosphamide , pure red cell aplasia , aplasia , bone marrow , bone marrow failure , bone marrow transplantation , surgery , pediatrics , transplantation , chemotherapy , stem cell , haematopoiesis , ribosome , rna , biochemistry , chemistry , genetics , biology , gene
A 6‐yr‐old girl with congenital corticosteroid‐resistant pure red cell aplasia was treated with bone marrow transplant from her HLA‐identical, MLC‐unreactive sister in November 1984 following conditioning with busulfan and cyclophosphamide. Full engraftment was obtained and the patient at 21 months post‐transplant is in excellent clinical condition maintaining normal red cell counts. We conclude that BMT should be considered as a therapy for at least the most severe cases of Diamond‐Blackfan anaemia resistant to corticosteroids. Successfull outcome of this therapy provides an argument for the stem cell origin of this disorder.