Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor.

Abstract

Congenital amegakaryocytic thrombocytopenia (CAMT) is characterized by severe thrombocytopenia and the absence of megakaryocytes in bone marrow. Furthermore, mutation of the c-mpl gene has been identified as a cause of this disorder. The only curative treatment is allogeneic stem cell transplantation (SCT). The current report describes a patient exhibiting c-mpl mutation in both alleles who underwent transplantation of allogeneic bone marrow donated by her brother, a c-mpl mutated carrier, employing a fludarabine-based conditioning regimen. Engraftment and reconstitution of hematopoietic cells was rapid and without complications. These findings suggest that the carrier donor displaying the c-mpl mutation can serve as a donor source for SCT.

• Authors: Kenji Muraoka, Eiichi Ishii, Kenji Ihara, Miyoko Imayoshi, Sumio Miyazaki, Toshiro Hara, Yuhei Hamasaki
• Journal: Pediatric transplantation (Pediatr Transplant) Vol. 9 Issue 1 Pg. 101-3 (Feb 2005) ISSN: 1397-3142 [Print] Denmark
• PMID: 15667621 (Publication Type: Journal Article)

Chemical References

• Immunosuppressive Agents
• Thrombopoietin
• Vidarabine
• fludarabine

Topics

• Bone Marrow Purging
• Bone Marrow Transplantation
• Child
• Female
• Heterozygote
• Humans
• Immunosuppressive Agents
• Megakaryocytes
• Point Mutation
• Thrombocytopenia (congenital, genetics, therapy)
• Thrombopoietin (genetics)
• Vidarabine (analogs & derivatives)