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

Abstract

SummaryAllogeneic haematopoietic stem cell transplantation (HSCT) is the only curative option for patients with Diamond Blackfan anaemia (DBA). We report the transplantation outcome of 30 Italian DBA patients referred to the Italian Association of Paediatric Haematology and Oncology Registry between 1990 and 2012. This is one of the largest national registry cohorts of transplanted DBA patients. Most patients (83%) were allografted after 2000. A matched sibling donor was employed in 16 patients (53%), the remaining 14 patients (47%) were transplanted from matched unrelated donors. Twenty-eight of the 30 patients engrafted. One patient died at day +6 due to veno-occlusive disease without achieving neutrophil recovery and another patient remained transfusion-dependent despite the presence of a full donor chimerism. The 5-year overall survival and transplantrelated mortality was 74Á4% and 25Á6%, respectively. Patients younger than 10 years as well as those transplanted after 2000 showed a significantly higher overall survival and a significantly lower risk of transplant-related mortality. No difference between donor type was observed. Our data suggest that allogeneic HSCT from a related or unrelated donor was a reasonable alternative to transfusion therapy in young and well chelated DBA patients.

Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency

“…Compared to published survival rates for other forms of hereditary anemias, cohorts that are otherwise comparable in age, time period and transplant hospital, the overall survival rate after HSCT in PKD is relatively low. [11][12][13] The present analysis of all 16 PKD patients known to be transplanted to date showed a three-year overall survival of 65%. Significantly better survival was observed for patients transplanted before the age of ten.…”

“…A negative effect of age on survival is also reported for other forms of hereditary anemia. 11,12 Concurrently, we noticed a striking difference in survival between patients treated in Asian and European centers, which could possibly be explained by the difference in age at which patients were transplanted. In addition, haematologica 2018; 103:e82 CASE REPORTS …”

Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

“…HSCT has to be proposed to steroid-refractory patients and may be discussed in patients responder, but dependant to steroid therapy above 0.3 mg/kg/d or transfusion dependant [54,55].…”

Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study

“…Iron chelation is needed for patients who receive chronic red cell transfusion [7]. HSCT, as the only definitive treatment, is considered in steroid-intolerant and transfusion-dependent patients after successful iron chelation therapy [15]. Cyclosporine A (CsA), as an alternative therapy was also reported in some studies [16][17][18][19].…”