Background: The red blood cells of the McLeod phenotype have weak expression of Kell System antigens due to no expression of XK protein.
Study design and methods: One blood donor reacted as K:-4 [Kp(b-)] during a screening assay. Subsequent serologic studies demonstrated weak expression of K:4 and all other high-incidence Kell system antigens tested; however, no expression of Kx antigen was observed.
Results: One apparently healthy blood donor demonstrated low expression of K:2, K:4, K:5, K:7, K:14, K:22, and no Kx antigen in his red blood cells. His brother and mother showed the same weak expression, and his father showed normal expression of antigens tested. Flow cytometry studies confirmed the mother's status as a McLeod carrier female. Genotyping determined the presence of KEL2 and KEL4 alleles in mother and siblings. Southern blot with an exon-1 probe showed fragments shorter than predicted for the siblings and the mother, suggesting a deletion. Polymerase chain reaction with primers spanning exon 1 and flanking regions displayed a similar pattern. Deoxyribonucleic acid sequence allowed the precise characterization of a deletion of 392 bp, beginning at the 5' of the coding region up to nucleotide 201 of exon 1, which putatively abrogates the production of XK protein.
Conclusion: Two brothers with McLeod phenotype in a Brazilian blood-donor population were identified. The molecular basis for this phenotype is a 392-bp deletion spanning from 5' of the coding region to exon 1 of the XK gene, never described before.