Essential Thrombocythaemia and treatment using stem cell therapies

What is Essential Thrombocythaemia?

Essential Thrombocythaemia is a rare blood disorder caused by an overproduction of megakaryocytes, the cells responsible for making platelets in our bone marrow.

Essential Thrombocythaemia is a myeloproliferative neoplasm, part of a group of disorders characterised by an increased production of one of the blood cell types, in this case, platelets.

Essential Thrombocythaemia is considered a chronic form of leukaemia with a good prognosis.

It usually requires no treatment and people with Essential Thrombocythaemia will have a normal life expectancy. However, it can lead to acute Myeloid Leukaemia or Myelofibrosis.

The disease affects approximately 1 in 100,000 people worldwide and is more common in women than in men. The average age of onset is 65–70 years old.

Diagnosis is usually made after a routine blood test that reveals an elevated platelet count. A bone marrow biopsy will usually be taken and genetic testing may be carried out.

However, excessive platelets can result in blood clots and this is the greatest health risk for a person with Essential Thrombocythaemia, as this can lead to a heart attack or stroke.

People with Essential Thrombocythaemia don’t usually show symptoms. However, when symptoms do appear they can include:

  • headaches
  • dizziness
  • weakness
  • bleeding
  • blood clots
  • Deep Vein Thrombosis
  • pulmonary embolism
  • vomiting
  • abdominal pain
  • fainting
  • numbness in the extremities
  • increased white blood cell count
  • reduced red blood cell count
  • enlarged spleen, caused by obstruction of blood flow

The exact cause of Essential Thrombocythaemia is unknown, although up to 50% of patients have a genetic mutation in the JAK2 kinase gene. This gene provides instructions for a protein responsible for red blood cell production.

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