Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome)

Abstract

Marrow transplantation was attempted in a 13-yr-old boy with congenital hypoplastic anemia who had never responded to corticosteroid therapy. Prior to the transplant, he had received 238 transfusions, at least 12 of which were from his father. He was prepared for grafting with antilymphocyte globulin, procarbazine, and total body irradiation (1000 rads). The patient, whose red cells were Group B, then received marrow cells from his Group O, histocompatible, sister. Thereafter, reticulocytes, Group O erythrocytes, and female leukocytes appeared in the peripheral blood. Erythroid precursors were seen in the patient's marrow for the first time in his life, and all lacked fluorescent Y chromosomes. Dividing cells were all female. After initially progressing well, the patient developed interstitial pneumonia and died 55 days after the transplant. The successful erythroid graft suggested that this patient's failure to produce red blood cells was due to a defective stem cell rather than to a humoral defect, plasma inhibitor, or abnormal marrow microenvironment. It suggested further that sibling marrow may be engrafted in patients who have received multiple transfusions, even from a parent.

Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry

“…Steroid‐intolerant or transfusion‐dependent patients may be considered for haematopoietic stem cell transplantation (HSCT), which is the only definitive treatment for the haematological manifestations of DBA. The first HSCT for DBA was reported in 1976 confirming DBA as a transplantable disease (August et al , ). After this initial case, several authors reported successful transplantations in DBA patients (Iriondo et al , ; Wiktor‐Jedrzejczak et al , ; Lenarsky et al , ; Gluckman et al , , ; Zintl et al , ; Mori et al , ; Greinix et al , ; Saunders et al , ; Lee et al , ; Mugishima et al , ; Wagner et al , ; Bonno et al , ; Ladenstein et al , ; Morimoto et al , ; Vettenranta & Saarinen, ; Willig et al , ).…”

Hematopoietic stem cell transplantation for Diamond‐Blackfan anemia: A report from the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology

“…High-dose corticosteroid therapy, androgens, and/or erythropoietin have been used with limited success in refractory patients. Previous reports on the HSCT for DBA patients indicated that HLAidentical sibling donor BMT led to the favorable outcomes compared with alternate donor BMT (8)(9)(10)(11)(12)(13)(14)(15)(16)(17). Most recipients were unresponsive to PSL and were extensively transfused until the transplantation.…”

Diamond Blackfan anaemia: differential pattern of in vitro progenitor response to macrophage inflammatory protein 1‐alpha

“…This is important for prospective clinical trials and bone marrow transplants. Transplants have had variable success (August et al, 1976;Greinix et al, 1993;Iriondo et al, 1984;Wiktor-Jedzrejczak et al, 1987). Intrinsic humoral inhibitory processes in the marrow microenvironment would make successful transplantation difficult.…”