title: Long-term survival and cure after marrow transplantation for congenital hypoplastic anaemia (Diamond-Blackfan syndrome).
abstract: 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.
authors.affiliation: Division of Clinical Research, Fred Hutchinson Cancer Research Center, Seattle, Washington 98104.
authors.forename: H T
authors.initials: HT
authors.lastname: Greinix
authors.forename: R
authors.initials: R
authors.lastname: Storb
authors.forename: J E
authors.initials: JE
authors.lastname: Sanders
authors.forename: H J
authors.initials: HJ
authors.lastname: Deeg
authors.forename: K C
authors.initials: KC
authors.lastname: Doney
authors.forename: K M
authors.initials: KM
authors.lastname: Sullivan
authors.forename: R P
authors.initials: RP
authors.lastname: Witherspoon
mesh_terms: D000208:Acute Disease; D000328:Adult; D001772:Blood Cell Count; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005199:Fanconi Anemia / Q000097:blood / Q000401:mortality / Q000628:therapy*; D005260:Female; D005500:Follow-Up Studies; D006085:Graft Survival; D006086:Graft vs Host Disease / Q000209:etiology; D006410:Hematopoiesis / Q000502:physiology; D006801:Humans; D008297:Male