title: Absence of JAK2 V617F mutation in thalassemia intermedia patients.
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.
authors.affiliation: Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Ali
authors.initials: A
authors.lastname: Taher
authors.forename: Dina
authors.initials: D
authors.lastname: Shammaa
authors.forename: Ali
authors.initials: A
authors.lastname: Bazarbachi
authors.forename: Doha
authors.initials: D
authors.lastname: Itani
authors.forename: Ghazi
authors.initials: G
authors.lastname: Zaatari
authors.forename: Layal
authors.initials: L
authors.lastname: Greige
authors.forename: Zaher K
authors.initials: ZK
authors.lastname: Otrock
authors.forename: Rami A R
authors.initials: RA
authors.lastname: Mahfouz
mesh_terms: D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007861:Lebanon; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D053614:Janus Kinase 2
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