Dr Rahul Bhargava Haematologist

MBBS, MD, DM (Clinical Haematology)

Principal Director & Chief Hematology at Fortis Hospital

MBBS, MD, DM (Clinical Haematology)

Principal Director & Chief Hematology at Fortis Hospital

Essential Thrombocythemia

fanconi anemia

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Frequently Asked Questions (FAQ) :

Long-term risks include an increased chance of blood clots, bleeding, and progression to other blood disorders such as myelofibrosis or acute leukemia. Regular monitoring and appropriate treatment can minimize these risks.

 

While there is no cure for ET, it can be effectively managed with proper medical care

ET is typically not inherited, but having a family history of blood disorders may increase your risk.

 

ET primarily involves an increased number of platelets, whereas other myeloproliferative disorders may involve red blood cells or white blood cells.

Maintaining a healthy diet, regular exercise, and avoiding smoking can help manage ET and reduce complications.

fanconi anemia

What is Essential Thrombocythemia?

Essential Thrombocythemia (ET) is a rare, chronic blood disorder characterized by an abnormal increase in the number of platelets in the blood. This condition can lead to an increased risk of blood clots, bleeding, and other complications. While ET is a type of myeloproliferative neoplasm (MPN), it’s important to know that it is a manageable condition with proper medical care.

Types of Essential Thrombocythemia

Essential Thrombocythemia is classified based on the type of genetic mutation involved:

  • JAK2 Mutation Positive ET: The most common type, found in about 50-60% of ET patients.
  • CALR Mutation Positive ET: Present in about 20-30% of patients.
  • MPL Mutation Positive ET: Found in a smaller percentage of patients.

Causes of Essential Thrombocythemia

The exact cause of Essential Thrombocythemia is not completely understood. However, it is often associated with mutations in specific genes, such as JAK2, CALR, or MPL. These genetic mutations lead to the uncontrolled production of platelets. While ET is generally not inherited, having a family history of blood disorders may slightly increase the risk.

Symptoms of Essential Thrombocythemia

    • Headaches
    • Dizziness or light-headedness
    • Vision problems
    • Numbness or tingling in the hands and feet
    • Easy bruising or bleeding
    • Redness or a burning sensation in the extremities

Diagnosis of Essential Thrombocythemia

Diagnosing Essential Thrombocythemia typically involves:

  • Complete Blood Count (CBC): To check platelet levels.
  • Genetic Testing: To identify mutations in JAK2, CALR, or MPL genes.
  • Bone Marrow Biopsy: In some cases, to assess bone marrow activity.

Treatment for Essential Thrombocythemia

While there is no cure for Essential Thrombocythemia, various treatments are available to manage symptoms and reduce the risk of complications:

  • Medications: Such as Hydroxyurea, Anagrelide, or low-dose Aspirin to control platelet count.
  • Targeted Therapy: For specific genetic mutations, such as JAK inhibitors.
  • Regular Monitoring: To assess blood counts and adjust treatment as needed.
  • Lifestyle Modifications: Including a healthy diet and regular exercise to improve overall health.

Cost of Treatment and Stay in India

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