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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 ...
Patients with one or two plasmacytoma bone lesions and no clonal plasma cells in their bone marrow biopsy specimens are treated by surgical removal or radiotherapy of their tumors. These treatments can relieve many of the syndromes clinical manifestations including neuropathies, have a 10-year overall survival of 70% and a 6-year progression ...
It is stimulated by decreased O 2 in circulation, which is detected by the kidneys, which then secrete the hormone erythropoietin. [2] This hormone stimulates proliferation and differentiation of red cell precursors, which activates increased erythropoiesis in the hemopoietic tissues, ultimately producing red blood cells (erythrocytes). [2]
EL2 and EL3: The most common genetic defects (present in two-thirds of all cases of hereditary elliptocytosis) are in genes for the polypeptides α-spectrin or β-spectrin. These two polypeptides combine with one another in vivo to form an αβ heterodimer. These αβ heterodimers then combine to form spectrin tetramers. These spectrin ...
Alpha-thalassemia (α-thalassemia) is a form of thalassemia involving the genes HBA1 [20] and HBA2. [21] It is condition that causes a reduction of hemoglobin production. There are two types of Alpha-thalassemia, named hemoglobin Bart hydrops fetalis syndrome (also known as Hb Bart syndrome) and HbH disease. [22] Anemia: D50-D64: 663
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. [3] Most of the health concerns associated with polycythemia vera are caused by the blood being thicker as a result of the increased red blood cells. It is ...
These clathrin-coated pits are short lived and serve only to form a vesicle for transfer of particles to the lysosome. The clathrin-coated pit invaginates into the cytosol and forms a clathrin-coated vesicle. The clathrin proteins will then dissociate. [2] What is left is known as an early endosome. The early endosome merges with a late endosome.
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 ...