Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes

LUJÁN BRAJOVICH, MELINA ELIANA; TRUCCO BOGGIONE, CAROLINA; BIONDI, CLAUDIA ; RACCA, AMELIA; TARRAGÓ, MARCEL; NOGUÉS, NURIA; MUÑIZ-DÍAZ, EDUARDO; COTORRUELO, CARLOS

TRANSFUSION

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Baltimore; Año: 2012 vol. 52 p. 389 - 396

0041-1132

BACKGROUND: The serologic assignment of the RhD status may be hindered in patients with weak D expression. A comprehensive study of RHD alleles occurring in the mixed population of Argentina is necessary to evaluate the most suitable DNA typing strategy. STUDY DESIGN AND METHODS: A total of 18,379 patients from two stratified groups, Group 1 (G1; public hospital) and Group 2 (G2; private laboratory), were RhD phenotyped, and 88 samples with reduced D expression underwent molecular characterization. RESULTS: The frequencies of D+, D?, and variant D phenotypes differed significantly (p < 0.001) between G1 and G2 (94.49% vs. 87.66%, 5.15% vs. 11.58%, and 0.36% vs. 0.75%, respectively). Eleven alleles were responsible for the weak D expression. Approximately 60% of the variant D phenotypes from G1 and G2 were weak D Types 1 through 4.0/4.2 and 25% were DVII. RHD alleles associated with African ancestry were encountered in G1. A new -282G>A mutation within the promoter region of DAU-4 and DOL alleles was identified. Three weak D Type 1 samples on R0 haplotypes were found in G1. CONCLUSIONS: The D phenotype distribution in G2 resembles that in Europeans while the frequencies in G1 account for the Amerindian and African genetic contribution. The genotyping strategy described here is suitable to study D variants in the overall population and could allow a better use of the few available D? units and a rational administration of anti-D immunoprophylaxis. The results also show that weak D Type 1 alleles do not exclusively segregate with a Ce allele, as assumed until present.