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Chuvash erythrocytosis or Chuvash polycythemia is an autosomal recessive form of erythrocytosis endemic in patients from the Chuvash Republic in Russia. Chuvash erythrocytosis is associated with homozygosity for a C598T mutation in the von Hippel–Lindau gene ( VHL ), which is needed for the destruction of hypoxia-inducible factors in the ...
Macrocytic anemias have several causes but with the implementation of folic acid fortification in North America, folate deficiency has become a rare cause of megaloblastic macrocytic anemia in that part of the world. [1] In this region, Vitamin B 12 deficiency is a far more common cause of megaloblastic macrocytic anemia. [1]
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. [1]
Myomatous erythrocytosis syndrome (MES) is an uncommon gynecological disorder associated with isolated polycythemia and uterine fibroids. The primary feature of myomatous erythrocytosis syndrome is that hemoglobin goes back to its baseline level following the removal of the myoma .
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.
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.
Megaloblastic anemia is a type of macrocytic anemia.An anemia is a red blood cell defect that can lead to an undersupply of oxygen. [1] Megaloblastic anemia results from inhibition of DNA synthesis during red blood cell production. [2]
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape.