Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature
Article first published online: 14 OCT 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 18, Issue 1, pages E31–E34, February 2014
How to Cite
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature, , .
- Issue published online: 3 JAN 2014
- Article first published online: 14 OCT 2013
- Manuscript Accepted: 29 AUG 2013
- congenital amegakaryocytic thrombocytopenia;
- MPL gene mutation;
- matched-unrelated donor;
- hematopoietic stem cell transplant;
- reduced intensity conditioning
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.