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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 ...
Erythropoietin (/ ɪ ˌ r ɪ θ r oʊ ˈ p ɔɪ. ɪ t ɪ n , - r ə -, - p ɔɪ ˈ ɛ t ɪ n , - ˈ iː t ɪ n / ; [ 1 ] [ 2 ] [ 3 ] EPO ), also known as erythropoetin , haematopoietin , or haemopoietin , is a glycoprotein cytokine secreted mainly by the kidneys in response to cellular hypoxia ; it stimulates red blood cell production ...
Loss of function of the erythropoietin receptor or JAK2 in mice cells causes failure in erythropoiesis, so production of red blood cells in embryos and growth is disrupted. If there is no systemic feedback inhibition, for example, the diminishment or absence of suppressors of cytokine signaling proteins, giantism may result as shown in mice models.
A normocytic anemia is an anemia with a mean corpuscular volume (MCV) of 80–100. Paroxysmal nocturnal hemoglobinuria: D59.5: 9688: Paroxysmal nocturnal hemoglobinuria (also known as Marchiafava-Micheli syndrome) is a rare, acquired, life-threatening blood disease, with anemia due to red blood cell destruction, red urine, and thrombosis.
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.
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[15] [16] Erythropoietin is an essential hormone for red blood cell production that is produced by the kidneys and binds to the erythropoietin receptor (EpoR). [17] When a person's erythrocyte count is higher than the normal range for their sex, the disease state erythrocytosis can occur. Erythrocytosis has been linked to a variety of EpoR gene ...
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