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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 ...
An anemia is a decrease in number of red blood cells (RBCs) or less than the normal quantity of hemoglobin in the blood. [2] [3] However, it can include decreased oxygen-binding ability of each hemoglobin molecule due to deformity or lack in numerical development as in some other types of hemoglobin deficiency.
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.
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 ...
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.
[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 ...
Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome TEMPI syndrome is an orphan disease where the patients share five characteristics from which the acronym is derived: telangiectasias , elevated erythropoietin and erythrocytosis , monoclonal gammopathy , perinephric fluid ...
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 .