New abnormalities in the morphology, cell surface receptors, and electrolyte metabolism of In(Lu) erythrocytes.
The In(Lu) phenotype is inherited as an autosomal dominant trait and is characterized by suppression of the Lutheran, P1, i, and Aua erythrocyte blood group antigens. We have developed a monoclonal antibody (L21) that strongly agglutinates all erythrocytes except In(Lu), and we have identified eight In(Lu) individuals among 42,000 blood donors tested. Studies of two families confirmed the dominant mode of inheritance and revealed several new features of this phenotype. The erythrocytes of all five affected individuals from the two families exhibited diminished hemagglutination by the lectin concanavalin A, although they reacted normally with several other lectins. The erythrocytes of two affected individuals in one family exhibited marked acanthocytosis. The erythrocytes of the proposita of the other family exhibited a mild degree of poikilocytosis, but the cells of the other two affected individuals in this family had normal morphology. The osmotic fragility of fresh In(Lu) erythrocytes was normal, but after incubation for 24 hours at 37 degrees C in plasma the In(Lu) cells exhibited a marked increase in resistance to osmotic lysis. During the incubation period the erythrocytes lost K+ and their total cation content was diminished. These data indicate that in addition to the suppression of blood group antigens noted previously, the In(Lu) phenotype includes a variety of morphological abnormalities and a defect in electrolyte metabolism. The use of L21 and similar monoclonal antibodies provides a more sensitive means of detecting In(Lu) erythrocytes than typing with human anti-Lub antisera.
D000911:Antibodies, Monoclonal / Q000276:immunology; D000954:Antigens, Surface / Q000097:blood; D002412:Cations / Q000097:blood; D004912:Erythrocytes / Q000276:immunology* / Q000648:ultrastructure; D004913:Erythrocytes, Abnormal / Q000648:ultrastructure; D008188:Lutheran Blood-Group System / Q000235:genetics / Q000276:immunology; D009996:Osmotic Fragility; D010375:Pedigree; D011975:Receptors, Mitogen / Q000097:blood
D000911:Antibodies, Monoclonal; D000954:Antigens, Surface; D002412:Cations; D008188:Lutheran Blood-Group System; D011975:Receptors, Mitogen