Trombocythemia

Trombocythemia, also known as essential thrombocythemia (ET), is a rare, chronic myeloproliferative disorder characterized by an excessive production of platelets (thrombocytes) in the bone marrow. Platelets are essential for blood clotting, and their overproduction can lead to an increased risk of blood clots (thrombosis) in arteries and veins. The condition typically arises from a mutation in the *JAK2* gene, though other genetic mutations may also play a role.

Symptoms of thrombocythemia are often mild or absent in the early stages, but they may include fatigue, headaches, dizziness, blurred vision, or tingling sensations due to reduced blood flow. Severe cases can lead to more serious complications, such as stroke, heart attack, or venous thrombosis. Some individuals may also experience splenomegaly (enlarged spleen) or gout, a form of arthritis caused by uric acid buildup.

Diagnosis involves a combination of blood tests, including a complete blood count (CBC) to confirm elevated platelet levels, as well as genetic testing to identify mutations like *JAK2*. Bone marrow biopsy may also be performed to rule out other conditions with similar symptoms. Differentiating thrombocythemia from reactive thrombocytosis (a temporary increase in platelets due to infection or inflammation) is crucial for accurate diagnosis.

Treatment focuses on managing symptoms and preventing complications. Low-dose aspirin may be prescribed to reduce clot risk, though it is not recommended for those with a history of bleeding disorders. Hydroxyurea is a common medication used to control platelet counts, while interferon-alpha can also be effective. Phlebotomy (removing blood) may be used in cases where red blood cell levels are elevated. In advanced or high-risk cases, targeted therapies or bone marrow transplantation may be considered.

Long-term prognosis varies depending on individual risk factors, but with proper management, many patients with thrombocythemia can live normal, active lives. Regular monitoring by a hematologist is essential to detect and address complications early. Research continues into better diagnostic tools and treatments for this condition.