Article

Molecular Biology Reports

, Volume 36, Issue 6, pp 1555-1557

First online:

Absence of JAK2 V617F mutation in thalassemia intermedia patients

  • Ali TaherAffiliated withDepartment of Internal Medicine, American University of Beirut Medical Center (AUBMC)
  • , Dina ShammaaAffiliated withDepartment of Pathology & Laboratory Medicine, American University of Beirut Medical Center (AUBMC)
  • , Ali BazarbachiAffiliated withDepartment of Internal Medicine, American University of Beirut Medical Center (AUBMC)
  • , Doha ItaniAffiliated withDepartment of Pathology & Laboratory Medicine, American University of Beirut Medical Center (AUBMC)
  • , Ghazi ZaatariAffiliated withDepartment of Pathology & Laboratory Medicine, American University of Beirut Medical Center (AUBMC)
  • , Layal GreigeAffiliated withDepartment of Pathology & Laboratory Medicine, American University of Beirut Medical Center (AUBMC)
  • , Zaher K. OtrockAffiliated withDepartment of Pathology & Laboratory Medicine, American University of Beirut Medical Center (AUBMC)
  • , Rami A. R. MahfouzAffiliated withDepartment of Pathology & Laboratory Medicine, American University of Beirut Medical Center (AUBMC) Email author 

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Abstract

JAK2 is a cytoplasmic tyrosine kinase that has a vital role in signal transduction from several hemopoietic growth factor receptors. The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia Vera, essential thrombocythemia, and idiopathic Myelofibrosis but has not been previously described in Thalassemia patients. We studied 36 Lebanese patients diagnosed with thalassemia intermedia and assessed the presence or absence of the JAK2 V617F mutation using JAK2 activating mutation assay (In VivoScribe Technologies) and Polymerase Chain Reaction (PCR). None of the thalassemia intermedia patients were positive for this mutation. To our knowledge, this study is the first to determine the status of JAK2 V617F mutation in thalassemia intermedia patients and expands the international published literature on JAK2. The latter’s V617F mutation does not seem to play a role in this hematologically important clinical entity.

Keywords

Thalassemia Intermedia JAK2 V617F Mutation