Original articleVariable clinical severity of hereditary spherocytosis: Relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis*
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2017, EBioMedicineCitation Excerpt :RBCs from mice raised on bromoAA had a right shifted osmotic fragility curve and a significantly shifted 50% lysis NaCl concentration, when compared to RBCs from gulo−/− mice raised on ascorbate and to wildtype mice (Fig. 2D). Hereditary spherocytosis has similar osmotic fragility changes with fresh blood as performed here, and these changes are physiologically relevant (Eber et al., 1990). Oxygen-hemoglobin dissociation (p50) was measured in RBCs from WT mice; and from gulo−/− without ascorbate, with ascorbate, and with bromoAA.
Spleen histology in children with sickle cell disease and hereditary spherocytosis: hints on the disease pathophysiology
2017, Human PathologyCitation Excerpt :This causes moderate to severe splenomegaly, which is typically associated with anemia, reticulocytosis, jaundice, and increased risk of gallstones. Splenectomy improves HS-related symptoms in most cases [6,9]. SCD is a hereditary disorder caused by a point mutation on the β-globin gene, inducing a glutamic acid–to-valine substitution at position 6 [10].
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Supported by grant No. Eb 99/1-1 from the Deutsche Forschungsgemeinschaft.