Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland.
Red blood cells of 17 patients out of seven families diagnosed with HS from the southwest of Poland were studied. In six families a deficiency of ankyrin was detected, and in one family a band 3 (anion-exchanger protein) deficiency was detected. Patients from six families with the ankyrin deficiency had a 19-51% decrease in ankyrin 2.1, while the family with the band 3 deficiency showed a 33% decrease in this protein content. All changes were statistically significant, as analysed by the Student t test (P<0.05). Analysis of haemolysis kinetics gives a reliable indication of altered osmotic properties of the spherocytic cells.
D000293:Adolescent; D000328:Adult; D001457:Anion Exchange Protein 1, Erythrocyte / Q000172:deficiency*; D017487:Ankyrins / Q000097:blood* / Q000172:deficiency; D001797:Blood Protein Electrophoresis; D002648:Child; D004910:Erythrocyte Membrane / Q000378:metabolism; D004912:Erythrocytes / Q000737:chemistry; D005190:Family; D006461:Hemolysis; D006801:Humans; D008875:Middle Aged; D011044:Poland; D013103:Spherocytosis, Hereditary / Q000097:blood*
D001457:Anion Exchange Protein 1, Erythrocyte; D017487:Ankyrins