MPL Baltimore mutation and thrombocytosis: case report and literature review

J Pediatr Hematol Oncol. 2013 Apr;35(3):e112-4. doi: 10.1097/MPH.0b013e318286d54c.

Abstract

Thrombocytosis is a common finding and is a frequent cause of referral for further investigation. The MPL Baltimore (Lys39Asn) mutation has been reported as a cause of thrombocytosis in 7% of African Americans. We describe an 11-month-old Ethiopian Jewish boy referred for evaluation of thrombocytosis who was found to be homozygous for MPL Baltimore. So far, there is no indication whether patients with thrombocytosis who have this mutation, particularly homozygotes, are at increased risk of thrombotic or hemorrhagic complications. Nevertheless, this entity should be considered in the differential diagnosis of every patient with thrombocytosis, particularly those of African origin.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Homozygote
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • Receptors, Thrombopoietin / genetics*
  • Review Literature as Topic
  • Thrombocytosis / genetics*
  • Thrombocytosis / pathology

Substances

  • Receptors, Thrombopoietin
  • MPL protein, human