Absence of JAK2 V617F mutation in thalassemia intermedia patients
| Autor: | Layal Greige, Zaher K. Otrock, Rami Mahfouz, Ali T. Taher, Doha Itani, Dina Shammaa, Ali Bazarbachi, Ghazi Zaatari |
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| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Thalassemia DNA Mutational Analysis Mutation Missense Polymerase Chain Reaction law.invention Myeloproliferative Disorders Polycythemia vera Gene Frequency law hemic and lymphatic diseases Internal medicine Genetics medicine Humans Lebanon Molecular Biology Polymerase chain reaction Hematology Essential thrombocythemia business.industry food and beverages General Medicine Janus Kinase 2 medicine.disease Immunology Mutation (genetic algorithm) Intermedia business |
| Zdroj: | Molecular biology reports. 36(6) |
| ISSN: | 1573-4978 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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