Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation

Int J Hematol. 2005 Jan;81(1):77-80. doi: 10.1532/ijh97.04044.

Abstract

We report successful treatment by bone marrow transplantation (BMT) in an acute myeloid leukemia (AML) patient with Glanzmann thrombasthenia (GT). Genetic analysis revealed that a novel point mutation in exon 3 of the GPIIb gene led to abnormal splicing resulting in an amino acid substitution and an in-frame deletion of 3 amino acid residues. Expression studies suggested a rapid degradation of the uncomplexed protein within the cells. Induction therapy for AML was performed with frequent platelet transfusions because of the patient's severe hemorrhagic manifestations. In the second remission, the patient was successfully treated by BMT from an HLA-matched unrelated donor. Platelet function returned to normal, and the GT phenotype completely disappeared. Our experience suggests that BMT is a curative therapeutic strategy for GT. Furthermore, we believe this study is the first to demonstrate that engraftment after BMT for AML can be determined by monitoring the congenital genetic defect of GT.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Bone Marrow Transplantation*
  • Humans
  • Leukemia, Myeloid / complications*
  • Leukemia, Myeloid / therapy*
  • Male
  • Middle Aged
  • Thrombasthenia / complications*
  • Thrombasthenia / genetics
  • Thrombasthenia / therapy*