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Disease: Thrombocythemia Thrombocythemia
Category: Blood diseases & tumors
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Disease Definition:

Also known as primary or essential thrombocythemia, Thrombocythemia is a rare disorder in which the body produces too many platelets (thrombocytes).

Thrombocythemia is more common in women above the age of 50. The disease often doesn’t cause any symptoms, but sometimes patients with thrombocythemia develop abnormal blood clots or have mild bleedings.

Actually, there is no need for treatment if the patient is not experiencing any signs or symptoms. Potentially serious complications can be avoided with treatment if the patient is experiencing symptoms.

Work Group:

Prepared by: Scientific Section

Symptoms, Causes


Patients with thrombocythemia may not experience any signs and symptoms, but the first signs of the disease may be blood clots (thrombus) formed virtually anywhere, especially in the brain, hands and feet.

Based on the location of the clot, it may cause different signs and symptoms:

Clots in the Brain:
If a clot is formed in the brain, it hinders blood flow and may cause chronic dizziness and headaches. In more severe cases, the clots may cause a stroke or a transient ischemic attack, which is a temporary obstruction of blood flow to a part of the brain that causes no permanent damage. Usually the symptoms occur suddenly and they can be in the form of vision problems (decreased, double or blurred) or problems in speaking and understanding speech or weakness or numbness in one side of the face, arm or leg.

Clots in Hands and Feet:
In case small blood vessels are obstructed in the hands and feet, the symptoms might be numbness, red patchy coloration and a feeling of burning (erythromelalgia) on soles or palms, which deteriorate with exercise or exposure to heat.

Severe cases of thrombocythemia (less likely), when the platelet count exceeds one million in one cubic millimeter, a contradictious bleeding may result in the form of bloody stools, bruising, mouth or gum bleeding and nosebleeds.

When noticing abnormal bleeding, clotting or TIA, immediate medical attention should be sought.


Stem cells in the bone marrow can transform into red or white blood cells or platelets that flow with the blood and play a major role in forming clots and stopping bleeding such as in wounds. The normal platelet count in the blood is 150 to 450 thousand in a cubic millimeter.

Overproduction of bone marrow cells (megakaryocytes) that transform into platelets results in thrombocythemia, and the extra amount of platelets may deviate their normal function and form blood clots in some places and bleedings in others.

The exact cause of the disease is still not known. While some patients with thrombocythemia have a genetic mutation of the Janus kinase 2 (JAK2) gene in their blood cells, it seems that this mutation doesn’t affect the course of the disease. Another form of thrombocythemia is believed to be hereditary.

The disorder may be called thrombocytosis when the overproduction of platelets is caused by another condition like iron deficiency anemia, removal of the spleen, cancer or rheumatoid arthritis.



Potentially risky complications may occur as a result of abnormal blood clotting, such as:

Pregnancy complications:
Women with thrombocythemia need constant medical monitoring during pregnancy since these complications can result in slow fetal growth, miscarriage, early separation of the placenta from the uterine wall (placental abruption) and premature delivery.

Immediate medical attention is required in the case of a stroke, which occurs when blood flow to the brain in blocked by a blood clot.

Heart attack:
This is caused by a clot blocking blood flow to the heart. Immediate medical attention should be sought when someone has a heart attack. Some of its characteristic signs and symptoms are:  


  • Fullness or a squeezing pain in the center of the chest lasting more than a few minutes
  • Pressure
  • An extended pain to the shoulder, arm, back, teeth or jaw
  • Shortness of breath
  • Sweating or clammy skin

Thrombocythemia may lead to severe blood loss due to hemorrhage or may lead to acute leukemia or myelofibrosis, which develop in the later stages of thrombocythemia and are life threatening.

Acute leukemia:
This is a type of blood and bone marrow cancer (acute myelogenous leukemia), which has a high progression rate.

Characterized by disruption of blood cell production, bone marrow scarring, severe anemia and enlargement of the spleen and liver, this condition is a progressive bone marrow disorder.


Depending on the risk of blood clotting and bleeding episodes, treatment of thrombocythemia varies, along with the patient’s age and other risk factors. For example, periodic checkups are sufficient in case the patient is below the age of 50, has no signs and symptoms and no other risk factors of blood clotting such as smoking; however, if the patient is older than 60 and has previously experienced symptoms of the disease, risks of blood clotting and bleeding are relatively high, thus physicians tend to lower the platelet count by proper treatment.

The patient may be recommended low-dose aspirin in case they’re at risk of blood clots, especially if she’s a pregnant woman. The stickiness of the platelets is reduced by aspirin, decreasing the risk of blood clot formation with relative low risk to the fetus. If on aspirin, the pregnant woman should stop taking it before at least one week from delivery to avoid possible bleeding complications during childbirth.

Some of the platelet count lowering drugs administered for thrombocythemia are:

This is the most common prescribed drug, sometimes with aspirin, in the treatment of thrombocythemia, also of cancer. It suppresses the bone marrow's activity in blood cell production, platelets included. Research has revealed that when administered over an extended period of time, it leads to the development of acute myelogenous leukemia, but this risk is relatively lower compared with similar drugs of its type. Constant medical monitoring of the patient and his/her blood is necessary while administering this drug.

Though not as effective as hydroxyurea, this drug is free from the increased risk of leukemia and does not damage cells to lower platelet count. Its side effects might be dizziness, headaches, fluid retention, nausea, diarrhea and heart problems, which is why it's not recommended for patients with a history of heart conditions.

Interferon alfa:
This drug is administered by injection and is more expensive and less convenient from the previous ones due to its side effects that may include confusion, depression, sleepiness, irritability, nausea, diarrhea, seizures and flu-like symptoms.

This method is characterized by the temporary and rapid lowering of the platelet count, thus it is applied only in emergency cases when the blood is clotting dangerously. In this method, an intravenous (IV) needle is inserted into a blood vessel, and blood is drawn out through a tube to be "filtered" from platelets by a device, then return the plasma and red blood cells to the body through an IV line.


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