Spanish Rhnull family caused by a silent Rh gene: hematological, serological, and biochemical studies.
Another example of rare red cells that failed to react with all anti-Rh and anti-LW antibodies was discovered in a Spanish woman suffering from a severe hemolytic anemia typical of the Rhnull syndrome. Family study and Rh blood typings demonstrated clearly that the proposita was homozygous for a silent Rh gene complex (Rhnull of the amorph type) that she inherited from her parents who are first cousins. Western blot analysis carried out with glycosylation-independent antibodies directed against the Rh polypeptide and the LW glycoprotein, respectively, confirmed that these protein components were absent from the red cells of the proposita. In addition, the patient was typed U-positive, again in agreement with the presence on her red cells of 45-75 kDa glycoproteins detected with the murine monoclonal antibody 2D10.
Pérez-Pérez
C
C
Servicio de Hematologia, Hospital San Agustin, Linares, Espana.
Taliano
V
V
Mouro
I
I
Huet
M
M
Salat-Marti
A
A
Martinez
A
A
Rouger
P
P
Cartron
J P
JP
D000328:Adult; D000743:Anemia, Hemolytic / Q000097:blood / Q000453:epidemiology / Q000276:immunology; D000911:Antibodies, Monoclonal / Q000032:analysis / Q000276:immunology; D015153:Blotting, Western; D005260:Female; D005796:Genes / Q000235:genetics* / Q000276:immunology; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012204:Rh-Hr Blood-Group System / Q000235:genetics* / Q000276:immunology; D013030:Spain
D000911:Antibodies, Monoclonal; D012204:Rh-Hr Blood-Group System