No one knows why it develops, although it is thought to be a genetic mutation or defect possibly involving more than one gene. It is not known whether the mutation is inherited at birth or acquired during one’s lifetime. Some researchers believe it is a combination of both.

The etiology and predisposing factors for the development of essential thrombocytosis (primary thrombocythemia) remain unclear. Genetic transmission of this disorder is rare, although reports show several families with multiple members affected by essential thrombocytosis (primary thrombocythemia). Research suggests that a thrombopoietin production or receptor abnormality can cause familial essential thrombocytosis (primary thrombocythemia).

Researchers have found a genetic marker for one of the Myeloproliferative Disorders, (Chronic Myelogenous Leukemia or CML,) which is known as the Philadelphia Chromosome. And, researchers recently discovered a genetic mutation (known as JAK2) that appears in most PV patients as well as many ET and MF patients. Another recent discovery (TET2) is found in a small percentage of MPD patients, yet it remains to be seen how this mutation fits in with JAK2.

Researchers no longer believe that one mutation can be responsible for three separate diseases, so obviously, more work needs to be done. What we do know is the stem cell in the bone marrow responsible for producing all blood cells becomes abnormal, overproducing certain types of blood cells. Thus, the marrow becomes incapable of keeping the blood elements in proper balance.

There will be continuation of new research initiatives and hope to one day completely understand the exact causes of Essential Thrombocythemia.


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