Premium
Long‐term survival and cure after marrow transplantation for congenital hypoplastic anaemia (Diamond‐Blackfan syndrome)
Author(s) -
Greinix Hildegard T.,
Storb Rainer,
Sanders Jean E.,
Deeg H. Joachim,
Doney Kris C.,
Sullivan Keith M.,
Witherspoon Robert P.
Publication year - 1993
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 - 10.1111/j.1365-2141.1993.tb03109.x
Subject(s) - medicine , busulfan , cyclophosphamide , diamond–blackfan anemia , transplantation , surgery , bone marrow , haematopoiesis , chemotherapy , stem cell , ribosome , rna , biochemistry , chemistry , genetics , biology , gene
Summary. Four patients with Diamond‐Blackfan syndrome (congenital hypoplastic anaemia) whose disease was resistant to corticosteroid treatment and who were red blood cell transfusion‐dependent, were given marrow grafts from allogeneic human‐leucocyte‐antigen (HLA)‐identical siblings. The patients were conditioned with regimens including cyclophosphamide and busulfan. Three of four patients had sustained and complete marrow engraftment. One patient showed early signs of haematopoietic recovery but died on day 35 of pulmonary toxicity. The three surviving patients are well with normal haematopoiesis and Karnofsky performance scores of 100%, 3·0, 7·4 and 10·6 years after transplantation. Congenital hypoplastic anaemia can be treated successfully by allogeneic marrow grafts.