Which are the causes of Essential Thrombocythemia?
See some of the causes of Essential Thrombocythemia according to people who have experience in Essential Thrombocythemia
Essential Thrombocythemia (ET) is a rare chronic blood disorder characterized by the overproduction of platelets in the bone marrow. While the exact cause of ET is not fully understood, several factors have been identified as potential contributors to the development of this condition.
Potential Causes of Essential Thrombocythemia:
- Gene Mutations: In many cases, ET is associated with acquired gene mutations, particularly in the Janus kinase 2 (JAK2) gene. This mutation, known as JAK2 V617F, leads to the overproduction of platelets and is found in a significant number of ET patients. Other gene mutations, such as CALR and MPL, have also been linked to the development of ET.
- Bone Marrow Abnormalities: Abnormalities in the bone marrow microenvironment can contribute to the development of ET. The bone marrow is responsible for producing blood cells, including platelets. Disruptions in the normal functioning of the bone marrow can lead to the overproduction of platelets seen in ET.
- Abnormal Signaling Pathways: ET is associated with dysregulation of signaling pathways involved in platelet production and regulation. The JAK-STAT pathway, which controls cell growth and division, is often affected in ET patients. Abnormal activation of this pathway can lead to the excessive production of platelets.
- Environmental Factors: While the primary cause of ET is believed to be genetic, certain environmental factors may play a role in triggering the development of the condition. Exposure to radiation, such as from previous cancer treatments or nuclear accidents, has been suggested as a potential risk factor for ET.
- Age and Gender: ET is more commonly diagnosed in individuals over the age of 50, although it can occur at any age. Additionally, women are slightly more prone to developing ET than men.
It is important to note that while these factors are associated with the development of ET, not all individuals with these risk factors will develop the condition. The interplay between genetic predisposition and environmental triggers is complex and requires further research to fully understand.
Early detection and proper management of ET are crucial to prevent complications. If you suspect you may have ET or have concerns about your platelet count, it is essential to consult with a healthcare professional for a comprehensive evaluation and appropriate guidance.
However, researchers have discovered mutations that alter the activity of proteins that control signaling pathways (important regulators of cell growth and development) in many patients with ET. Signaling pathways are important regulators of cell growth and development.
As mentioned before cause of ET is not fully understood. About half of
patients with ET have a mutation of the JAK2 (Janus kinase 2)
gene in their blood cells. Whether or not a patient has the
mutation does not appear to significantly affect the nature
or course of the disease. Research is under way to determine
the precise role of the JAK2 mutation in the biology of the
disease and to identify other mutations in ET patients.
The incidence (newly diagnosed cases) of ET for all races
and ethnicities is approximately 2.2 per 100,000 population
each year. ET occasionally occurs in older children, but is
mostly diagnosed in adult men and women. The prevalence
(estimated number of people alive on a certain date in a
population with a diagnosis of the disease) is approximately
24 cases per 100,000 population, which has been shown in
several small studies.
Posted Aug 11, 2017 by Steve 2685
Posted Feb 7, 2019 by James 3550
