ABSTRACT
OBJECTIVE: To identify the blood group of a patient with DEL phenotype combined with positive direct anti-human globulin test and to analyze the pedigree. METHODS: Routine serological reagents were used for serological analysis of RhD blood group in the pedigree members. Exons and flanking sequences of RHD gene were amplified, sequenced and analyzed for heterozygosity. The familial genetic state of DEL phenotype was further analyze in the family members. RESULTS: The DAT was strongly positive in the proband. The 1227G>A allele (RHD*DEL1) was present in the exon 9 of RHD gene, and the mother was the carrier of RHD*DEL1. The proband was identified as RHD+/RHD-, suggesting the CD1227Ae/Cde haplotype. CONCLUSION: The proband is DEL phenotype (RHD*DEL1).
