How is Essential Thrombocythemia Diagnosed?
Published: Sep 01, 2024
Diagnosing Essential Thrombocythemia (ET) involves a series of tests and evaluations. Learn about the essential steps taken by healthcare professionals to identify this condition.
Contents
Blood Tests and Bone Marrow Examination
The first step in diagnosing ET is a complete blood count (CBC) to check for elevated platelet levels. If thrombocytosis is detected, a bone marrow biopsy is performed to examine megakaryocyte proliferation. These tests help differentiate ET from other blood disorders.
Genetic Testing
Genetic testing is crucial to confirm ET diagnosis. Tests for mutations in the JAK2, CALR, and MPL genes are common, as their presence supports a diagnosis of ET. Genetic testing helps differentiate ET from other similar conditions.

Excluding Other Conditions
ET diagnosis requires ruling out other potential causes of high platelet counts, such as chronic myeloid leukemia or polycythemia vera. This involves a thorough evaluation of the patient's medical history and additional laboratory tests to exclude these conditions.
Frequently Asked Questions
A complete blood count (CBC) is the first test.
Genetic testing confirms ET by identifying specific mutations.
Conditions like chronic myeloid leukemia must be ruled out.
Next Steps
Proper testing is vital for an accurate ET diagnosis.
References
- Tefferi A, Thiele J, Orazi A, et al. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel. Blood 2007; 110:1092.
- Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127:2391.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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