Factor V Leiden and allogeneic bone marrow transplantation: chimerism as a confounding factor in genetic test interpretation

Clin Lab Haematol. 1999 Dec;21(6):401-2. doi: 10.1046/j.1365-2257.1999.00256.x.

Abstract

Factor V Leiden is one of the most common genetic conditions predisposing to venous thrombosis. Diagnosis is currently made by plasma activity assay for activated protein C (APC) resistance or polymerase chain reaction (PCR)-based DNA assay. The occurrence of factor V Leiden is reported in a patient affected by acute myeloid leukaemia submitted to allogeneic bone marrow transplantation from an HLA identical sister. The donor was not affected by the factor V mutation. The patient did not develop thrombosis during induction and consolidation chemotherapy and the post-transplantation course was not complicated by thrombosis or veno-occlusive disease. At engraftment, PCR analysis showed the disappearance of factor V Leiden. Genetic tests on DNA after allogeneic marrow transplantation should be carefully interpreted as a result of donor chimerism.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Transplantation*
  • Factor V / genetics*
  • HLA Antigens
  • Histocompatibility Testing
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / therapy*
  • Male
  • Middle Aged
  • Mutation
  • Transplantation Chimera*
  • Transplantation, Homologous

Substances

  • HLA Antigens
  • factor V Leiden
  • Factor V