Hematopoietic Stem Cell Transplantation for Congenital Dyserythropoietic Anemia

초록

Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of inherited anemias that affect normal differentiation and proliferation pathways of the erythroid lineage. Patients with CDA show anemia, jaundice, splenomegaly, and ineffective erythropoiesis. With the advent of next-generation sequencing (NGS), the diagnosis of CDA has become easier, enabling more accurate prognostic assessment and shifting treatment approaches from supportive care to curative hematopoietic stem cell transplantation (HCT). Methods : In this retrospective multicenter study, we describe the outcomes of pediatric patients with CDA who underwent HCT. Clinical information of the patients and the details on transplant procedures and outcomes were collected by a questionnaire distributed to participating centers. Iron overload was defined as elevated serum ferritin (>1000 μg/L). Engraftment was defined as neutrophil count >0.5 × 10/L for at least three consecutive days, and primary graft failure was defined as neutrophil count fails to reach >0.5×10/L. Overall survival (OS) and event-free survival (EFS), defined as survival without rejection, graft loss or a second transplant, were analyzed as well.