MPL Baltimore mutation and thrombocytosis: Case report and literature review

Vered Shkalim-Zemer, Orly Dgany, Tanya Krasnov, Joanne Yacobovich, Hannah Tamary

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)e112-e114
JournalJournal of Pediatric Hematology/Oncology
Volume35
Issue number3
DOIs
StatePublished - Apr 2013

Keywords

  • Children
  • MPL Baltimore
  • Thrombocytosis

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