NOR polyagglutination and St^a glycophorin in one family: relation of NOR polyagglutination to terminal α‐galactose residues and abnormal glycolipids

Abstract

Our results showed that two rare features of TS's RBCs, NOR polyagglutination and St(a) glycophorin, are inherited independently, and that NOR+ RBCs contain neutral glycolipids with an abnormal oligosaccharide structure, most likely terminated with alpha-galactosyl residues.

Structure of a Neutral Glycosphingolipid Recognized by Human Antibodies in Polyagglutinable Erythrocytes from the Rare NOR Phenotype

“…Using a panel of lectins, the authors identified a new type of polyagglutination that was enhanced after treatment of NOR erythrocytes with proteases and was inhibited by sheep hydatic cyst fluid or avian P1 substance. Recently a second case of NOR polyagglutination has been identified in a two-generation Polish family (3). We found that polyagglutination of NOR erythrocytes, besides having the features described by Harris et al (2), was enhanced by sialidase and abolished by ␣-galactosidase treatment.…”

“…Isolation of Glycosphingolipids-Neutral glycosphingolipids were isolated from lyophilized membranes of human NOR and control erythrocytes and rabbit erythrocytes as described previously (3). Briefly the procedure included two chloroform/methanol (2:1 and 1:2, v/v) extractions, treatment of the extracted and evaporated material with 0.2 M KOH in methanol to remove phospholipids, desalting the neutralized samples on the Sephadex G-25 superfine (Amersham Pharmacia Biotech) column, and separation of neutral glycolipids from gangliosides on the DEAE-Sephadex A-25 (Amersham Pharmacia Biotech) column.…”

“…This lectin did not react with any glycolipid from blood group-compatible (A2) control erythrocytes. A faster migrating GSL-IB4-positive band was also detected with Ricinus communis agglutinin I (RCA-I) which also strongly stained paragloboside in control and NOR erythrocytes (3). The strong reactivity of the NOR glycolipids with GSL-IB4, which reacts preferably with the Gal␣133Gal-sequence (4), suggested the NOR erythrocytes contain glycolipid components that terminated with this structure.…”

A Single Point Mutation in the Gene Encoding Gb3/CD77 Synthase Causes a Rare Inherited Polyagglutination Syndrome

“…A similar phenotype was then described in the Polish T.S. family (2). These two families are the only cases of NOR polyagglutination described so far.…”

“…Finally, washed cells were resuspended (5 ϫ 10 5 cells per 0.75 ml) and analyzed as described above. Extraction and Purification of Glycosphingolipids-The isolation and fractionation of glycolipids and the orcinol staining were performed using the standard procedures applied previously to erythrocytes (2,3). Briefly, glycolipids were extracted from 2102Ep cells with chloroform/methanol, and the neutral glycolipids were separated from the phospholipids and gangliosides, purified in peracetylated form, de-O-acetylated, and desalted.…”