Vnitr Lek 1997, 43(2):91-94
[Relation between types of erythrocyte membrane defects and the clinical picture in hereditary spherocytosis].
- Ustav hematologie a krevní transfuze, Praha.
From total number of 130 patients with hereditary spherocytosis from 75 families in 119 patients from 69 families a defect of membrane proteins was detected. In 23 families (33.3%) a spectrin defect was involved, in 32 families (46.3%) a combined defect of spectrin and ancyrine and in 14 families (20.3%) a defect of band 3 proteins. Investigation of the membrane defect and the clinical and laboratory picture revealed that the band 3 protein defect of spectrin and ancyrine. There are significant differences in the clinical picture of the two latter defects.
Keywords: Adult; Child; Erythrocyte Membrane, chemistry, ; Female; Humans; Male; Membrane Proteins, analysis, ; Osmotic Fragility; Reticulocyte Count; Spherocytosis, Hereditary, blood, ; Splenectomy
Published: February 1, 1997 Show citation