title: Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis.
abstract: Five patients with hereditary elliptocytosis (HE) from two unrelated black families were studied. The patients had prominent elliptocytosis and a decreased erythrocyte resistance to heat treatment. In one infant blood smears showed elliptocytosis and poikilocytosis; his erythrocytes fagmented at a lower temperature than those of his mother and sister, both having typical mild HE. Defective dimer-dimer association was present in all patients. Limited tryptic digestion of spectrin and subsequent analysis by one- and two-dimensional electrophoresis revealed a similar and reproducible decrease in the 80,000-dalton peptide (alpha I domain) and the concomitant appearance of a 46,000-dalton peptide. All the patients had the polymorphism of the spectrin alpha II domain commonly observed in black populations. In addition, modifications relative to the alpha III domain were detected; similar variants were found in one black control subject out of 136 and are likely related to a genetic polymorphism of the alpha III domain. No differences were observed between the peptide patterns in the infant with poikilocytosis and those of his HE sister and mother.
mesh_terms: D000328:Adult; D044383:Black People; D004591:Electrophoresis, Polyacrylamide Gel; D004612:Elliptocytosis, Hereditary / Q000097:blood* / Q000235:genetics; D004909:Erythrocyte Indices; D004910:Erythrocyte Membrane / Q000032:analysis; D005260:Female; D006801:Humans; D006868:Hydrolysis; D007223:Infant; D007525:Isoelectric Focusing; D007700:Kinetics; D008297:Male; D010375:Pedigree; D013049:Spectrin / Q000032:analysis* / Q000235:genetics
chemical_list: D013049:Spectrin