Thrombocythemia is a rare disorder in which the body generates too many blood platelets. Platelets are parts of the blood that help in blood clotting. Thrombocythemia is more prevalent in people aged 50 and above although it can affect young people as well. It is slightly more frequent in women. Thrombocythemia is categorized under a class of conditions called myeloproliferative disorder.

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Thrombocythemia Symptoms

The first sign of Thrombocythemia is the development of a blood clot (thrombus). The clots can develop anywhere in the body. The signs and symptoms vary depending on where the clot forms. They include:

  • Headache
  • Dizziness
  • Chest pain
  • Lightheadedness
  • Weakness
  • Fainting
  • Temporary vision changes
  • Numbness
  • Tingling of the hands and feet
  • Burning pain in the hands and feet
  • Mildly enlarged spleen

The less frequent symptoms of Thrombocythemia include:

  • Nosebleeds
  • Bloody stool
  • Bleeding from the mouth and gums
  • Bruising

If the clots occur in the brain, the patient may encounter the following symptoms:

  • Weakness and numbness of the face
  • Inability to speak
  • Difficulty understanding speech
  • Blurred vision

Thrombocythemia Causes

The exact cause of Thrombocythemia is not known. However, research has it that approximately 80% of the people with Thrombocythemia have an acquired gene mutation that has a role in the development of the disease. The gene mutation may involve the gene mutations listed below:

  • Janus kinase 2 (JAK2)
  • Calreticulin (CALR)
  • MPL

A high count of platelets may also be caused by an underlying condition such as an infection or iron deficiency. Such a condition is known as reactive or secondary Thrombocythemia. Patients suffering from secondary Thrombocythemia have a lower risk of clots and bleeding.

Thrombocythemia Diagnosis

If the patient has a blood count of 450,000 platelets or more, the doctor will carry out tests to establish an underlying condition. The tests are conducted to confirm a diagnosis of Thrombocythemia. The tests include:

  • Total blood count – The doctor seeks to find the exact number of platelets in your blood with this test
  • Blood smear – The patient’s blood is examined under a microscope to find out the activities of the platelets
  • Genetic testing – This is done to establish if the patient has abnormalities in the chromosome that can cause high platelet count
  • Bone marrow aspiration – The sample of the bone marrow is examined under a microscope for abnormal cells
  • Bone marrow biopsy – This test is done to find out of if the bone marrow has a higher than usual amount of cells that make platelets.

Thrombocythemia Treatment

The method used to treat Thrombocythemia primarily depends on the patient’s risk of blood clotting or bleeding episodes. In the event that the patient is younger than 60 and shows no signs or symptoms, the doctor may recommend periodic medical checkups. However, he or she may prescribe medication if:

  • The patient is older than 60 and has had previous blood clots
  • The patient is exposed to cardiovascular risk factors including high cholesterol, diabetes or high blood pressure

A medical procedure known as plateletpheresis may be carried out only in emergencies such as stroke or dangerous blood clotting. The procedure is meant to lower the patient's platelet count temporarily.

Main Thrombocythemia Drugs

Hydrea Hydroxyurea Agrylin

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