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In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells. [1] The majority of cases [ 2 ] are caused by mutations in the JAK2 gene, most commonly resulting in a single amino acid change in its protein product from valine to phenylalanine at position 617.
Mild polycythemia on its own is often asymptomatic. Treatment for polycythemia varies, and typically involves treating its underlying cause. [6] Treatment of primary polycythemia (see polycythemia vera) could involve phlebotomy, antiplatelet therapy to reduce risk of blood clots, and additional cytoreductive therapy to reduce the number of red ...
High platelet counts can occur in patients with polycythemia vera (high red blood cell counts), and is an additional risk factor for complications. [citation needed] A very small number of people report symptoms of erythromelalgia, a burning sensation and redness of the extremities that resolves with cooling, or aspirin or both. [3]
The most common symptoms are bleeding (due to dysfunctional platelets), blood clots (e.g., deep vein thrombosis or pulmonary embolism), fatigue, headache, nausea, vomiting, abdominal pain, visual disturbances, dizziness, fainting, and numbness in the extremities; the most common signs are increased white blood cell count, reduced red blood cell ...
However, splenectomy in the presence of massive splenomegaly is a high-risk procedure, with a mortality risk as high as 3% in some studies. [23] In November 2011, the US Food and Drug Administration (FDA) approved ruxolitinib (Jakafi) as a treatment for intermediate or high-risk myelofibrosis. [24] [25] Ruxolitinib serves as an inhibitor of JAK ...
Intrinsically related symptoms such as fever, malaise, pruritus (itching) due to the release of histamine, [5] fatigue, and right upper quadrant pain may be present in the afflicted patient. With some conditions, such as polycythemia vera, erythromelalgia, or burning of the palms and soles, coupled with thrombocytosis is common.
The cause for the disorder is related to a genetic mutation of the HBB gene. This gene is responsible for providing the instructions to produce beta-globin; one of the major components of hemoglobin. The two classification types of beta thalassemia are thalassemia major (also known as Cooley's anemia) and thalassemia intermedia.
Polycythemia vera (increase in the number of cells in general) Erythrocytosis (increase in the number of red blood cells) Leukocytosis (increase in the number of white blood cells) Thrombocytosis (increase in the number of platelets) Myeloproliferative disorder; Transient myeloproliferative disease; Coagulopathies (disorders of bleeding and ...
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