نتایج جستجو برای: hereditary spherocytosis
تعداد نتایج: 84467 فیلتر نتایج به سال:
Probable manifestations of the intrinsic corpuscular defect leading to shortened red blood cell (RBC) survival in hereditary spherocytosis (HS) have been induced by in vitro incubation of these erythrocytes (2-4). The classical in vitro changes that have been described are a marked increase in autohemolysis in the absence of metabolized substrate and an increase in osmotic fragility. Young, Izz...
BACKGROUND The technology to recognize nucleated red blood cells (NRBC) automatically has only recently been developed. Modern hematology analyzers allow for rapid and accurate NRBC counts. The goal of our study was to evaluate NRBC counts and the concentrations of serum transferrin receptor (sTfR) in patients affected by different thalassemia syndromes and hereditary spherocytosis. We wished t...
Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced surface area on peripheral blood smear. Pathogenic variants in five erythrocyte membrane structure-related genes ANK1 (Spherocytosis, type 1; MIM#182900), SPTB 2; MIM#616649), SPTA1 3; MIM#270970), SLC4A1 4; MIM#612653) and EPB42 5...
Congenital haemolytic anaemias are hereditary conditions resulting from an increase in the rate of red cell destruction.1 Four main types of red cell abnormality can cause haemolysis: • cytoskeletal membrane disorders (eg hereditary spherocytosis (HS), hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP)) • disorders of membrane cation transport (eg hereditary stomatocytosis) • e...
I N RECENT YEARS, specffic inborn erythrocyte enzyme deficiencies have l)een implicated in the etiology of certain hereditary hemolytic anemias not characterized by spherocytosis. This report defines still another instance in which hereditary hemolytic anemia has been found to be associated with a deficiency in a specific glycolytic enzyme. The propositus has had a hemolytic syndrome present si...
We read with interest the recent article of Bianchi et al. published in Haematologica that compared laboratory tests for hereditary spherocytosis (HS) in 150 patients. The authors reported the usefulness of the eosine-5maleimide binding (EMA) test in the diagnosis of HS with high sensitivity and specificity, and confirmed, as we had previously reported, that this test was independent of the typ...
The in vivo survival of hereditary spherocytes has been investigated with the (51)Cr red cell survival technique. Spherocytes invariably showed a shorter survival in a normal recipient than in the donor's own circulation. Moreover transfusion of spherocytes from a mother to her son, both with hereditary spherocytosis, showed that "foreign" spherocytes have a shorter survival than the "self" sph...
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