نتایج جستجو برای: hereditary spherocytosis
تعداد نتایج: 84467 فیلتر نتایج به سال:
Various mutations in the AE1 (anion exchanger 1, band 3) gene cause dominant hereditary spherocytosis, a common congenital hemolytic anemia associated with deficiencies of AE1 of different degrees and loss of mutant protein from red blood cell membranes. To determine the mechanisms underlying decreases in AE1 protein levels, we employed K562 and HEK293 cell lines and Xenopus oocytes together wi...
Hereditary spherocytosis is a genetically determined abnormality of red blood cells. It is likely that a defect of intracellular glycolysis results in the formation of spherical cells (spherocytes) which have a reduced life span and exhibit increased osmotic fragility in hypotonic saline solutions, increased susceptibility to mechanical trauma, and spontaneous lysis on incubation. Lysis is mark...
El) BLOOD CELLS from patiemits with hereditary spherocytosis (HS) and certaimi other hemolytic disorders umidergo lysis more readily than normal cells w’hemi incubated in vitro at body temperature for periods of 24 to 96 hours. Measurement of such spontaneous hemolysis, called “autohemolysis,” frequently aids in demonstrating abnormality of red cells, especially in cases of hereditary spherocyt...
A 14-year-old boy with hemoglobin SC disease and alpha-thalassemia-2 experienced five episodes of acute splenic sequestration crisis (ASSC), while two of his siblings with identical globin genotypes (SC and -alpha/alpha alpha) had no such experience. To determine if an additional red blood cell (RBC) defect was responsible for the unusual occurrence of frequent ASSCs, we performed detailed rheo...
Teenage sisters were found to have hereditary spherocytosis when they presented in aplastic crisis associated with otherwise asymptomatic parvovirus infection. Such patients may present a source of cross-infection to others at risk.
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