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Center of Excellence In Genomic Medicine Research
Document Details
Document Type
:
Article In Journal
Document Title
:
Essential Thrombocythemia: Current Molecular and Therapeutic Insights
Essential Thrombocythemia: Current Molecular and Therapeutic Insights
Document Language
:
English
Abstract
:
Essential thrombocythemia is one of the Philadelphia chromosome negative, clonal myeloproliferative disorders involving the hematopoietic stem cells and is characterized by elevated platelet counts and attendant thromboembolic phenomenon. A point mutation in the Janus-Activated Kinase 2 gene (JAK2V617F) accounts for nearly 50% of Essential thrombocythemia patients while about 10% have mutations in the thrombopoetin receptor (MPL) gene (MPLW515L/K). Several other genes are implicated, clearly indicating the existence of drivers both common and uncommon in the causation of Essential thrombocythemia. Genotyping for mutations will therefore be a useful diagnostic tool for detection of Janus-Activated Kinase 2 negative, MPL negative, Essential thrombocythemia patients. An integrated approach of systematic analysis leading to accurate diagnosis will enable risk stratification and institution of therapy following the World Health Organization guidelines. In addition to Janus-Activated Kinase inhibitors, a combination of agents that has anti-inflammatory properties could help prevention and/ or reversal of fibrosis.
ISSN
:
1658-5763
Journal Name
:
Saudi Journal of Internal Medicine
Volume
:
5
Issue Number
:
1
Publishing Year
:
1436 AH
2015 AD
Article Type
:
Article
Added Date
:
Wednesday, April 20, 2016
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
Kalamegam Gauthaman
Gauthaman, Kalamegam
Investigator
Fatin M. Al-Sayes
Al-Sayes, Fatin M.
Researcher
Files
File Name
Type
Description
38623.pdf
pdf
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