DNA-based typing of blood groups for the management of multiply-transfused sickle cell disease patients.
BACKGROUND
The usefulness of DNA genotyping for RBC antigens as a tool for the management of multiply-transfused patients with sickle cell disease (SCD) to overcome the limitations of hemagglutination assays was evaluated.


METHODS
Blood samples from 40 multiply-transfused SCD patients were studied by hemagglutination and by PCR-RFLP for antigens or genes in the Rh (D, C/c, E/e), Kell, Kidd, and Duffy systems.


RESULTS
Discrepancies were found between hemaglutination and DNA typing test results in six patients: two were discrepant in Rh typing (one was D- by hemagglutination and RhD by DNA, and one was E+e- and RhEe by DNA), two were discrepant in Duffy typing [both were Fy(a+b-) and Fy(b)/Fy(b) by DNA], and four were discrepant in Kidd typing [Jk(a+b+) and Jk(b)/Jk(b) by DNA; two of these samples were also discrepant in Duffy]. Stored segments from blood units that had been recently transfused to these six recipients were phenotyped, confirming that the transfused RBCs were the source of the discrepancy between genotype and phenotype.


CONCLUSIONS
DNA typing of blood groups by PCR-RFLP in peripheral blood WBCs contributes to the management of transfusions in SCD patients by allowing a more accurate selection of donor units.
Castilho
Lilian
L
Hematology and Hemotherapy Center, State University of Campinas (Unicamp), Campinas, SP, Brazil. castilho@unicamp.br
Rios
Maria
M
Bianco
Celso
C
Pellegrino
Jordão
J
Alberto
Fernando L
FL
Saad
Sara T O
ST
Costa
Fernando F
FF
D000483:Alleles; D000755:Anemia, Sickle Cell / Q000097:blood* / Q000628:therapy*; D001789:Blood Group Antigens / Q000235:genetics*; D001788:Blood Grouping and Crossmatching / Q000379:methods*; D001803:Blood Transfusion; D002610:Cheek; D004247:DNA / Q000032:analysis* / Q000097:blood; D004375:Duffy Blood-Group System / Q000235:genetics; D004847:Epithelial Cells / Q000737:chemistry; D005838:Genotype; D006384:Hemagglutination; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics; D007667:Kidd Blood-Group System / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012204:Rh-Hr Blood-Group System / Q000235:genetics; D017422:Sequence Analysis, DNA
D001789:Blood Group Antigens; D004375:Duffy Blood-Group System; D007626:Kell Blood-Group System; D007667:Kidd Blood-Group System; D012204:Rh-Hr Blood-Group System; D004247:DNA