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Primary polycythemia is the overproduction of red blood cells due to a primary process in the bone marrow (a so-called myeloproliferative disease). These can be familial or congenital, or acquired later in life.
This is an incomplete list, which may never be able to satisfy certain standards for completion.. There are many conditions of or affecting the human hematologic system—the biological system that includes plasma, platelets, leukocytes, and erythrocytes, the major components of blood and the bone marrow.
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.
Polycythemia vera (PV) is associated most often with the JAK2 V617F mutation greater than 95% of cases, whereas the remainder has a JAK2 exon 12 mutations. High hemoglobin or hematocrit counts are required, as is a bone marrow examination showing "prominent erythroid , granulocytic and megakaryocytic proliferation with pleomorphic, mature ...
Children with Down syndrome are susceptible to MDS, and a family history may indicate a hereditary form of sideroblastic anemia or Fanconi anemia. [15] GATA2 deficiency and SAMD9 /9L syndromes each account for about 15% of MDS cases in children.
[3] [8] JAK2 is a member of the Janus kinase family. [ 3 ] [ 8 ] In 2013, two groups detected calreticulin mutations in a majority of JAK2 -negative/ MPL -negative patients with essential thrombocythemia and primary myelofibrosis , which makes CALR mutations the second most common in myeloproliferative neoplasms .
The excessive fluid is usually blood, and can be a sign of a number of conditions with different causes. An excess of blood may be either an excessive blood flow to an area of the body, or an increase in the volume of blood (polycythemia). Extra perfusion to the face is termed facial plethora, a hallmark sign of Cushing's syndrome. [1]
Primary myelofibrosis (PMF) is a rare bone marrow blood cancer. [1] It is classified by the World Health Organization (WHO) as a type of myeloproliferative neoplasm , a group of cancers in which there is activation and growth of mutated cells in the bone marrow .
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