Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature

Abstract

CAMT is a bone marrow failure syndrome that usually presents with isolated thrombocytopenia soon after birth. HSCT is curative, and MAC is associated with increased transplant-related morbidity and mortality, especially in the unrelated setting. We used a RIC regimen with alemtuzumab, fludarabine, and melphalan in a seven-month-old patient with CAMT who underwent a MUD HSCT. The transplant was well tolerated with few complications. Neutrophil and platelet engraftment occurred on day +12 and +29, respectively, and she had 100% donor chimerisms on days +19.

Keywords: MPL gene mutation; congenital amegakaryocytic thrombocytopenia; hematopoietic stem cell transplant; matched-unrelated donor; reduced intensity conditioning.