[Relation between types of erythrocyte membrane defects and the clinical picture in hereditary spherocytosis].
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.
Brabec
V
V
Ustav hematologie a krevní transfuze, Praha.
Palek
J
J
Petrtýlová
K
K
Cermák
J
J
Jarolím
P
P
D000328:Adult; D002648:Child; D004910:Erythrocyte Membrane / Q000737:chemistry*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000032:analysis*; D009996:Osmotic Fragility; D017701:Reticulocyte Count; D013103:Spherocytosis, Hereditary / Q000097:blood* / Q000628:therapy; D013156:Splenectomy
D008565:Membrane Proteins
Vztah mezi typem membránového defektu erytrocytů a klinickým obrazem u hereditární sférocytózy.