English abstract
The frequency of Rhesus D negative blood group in Omanis is 8.35% but the molecular
background of this phenotype is unknown in the Omani population. The Rhesus D
negative phenotype has a high molecular diversity. We report a rare case of serological D
negative with existence of complete RHD gene in a 43-year-old Omani male blood donor.
Molecular analysis of RHD exons showed duplication across the boundary of intron 3
and exon 4. This is a 37 bp insert in RHD exon 4 along with c.609 G>A mutation. We
are uncertain if the presence of RHDΨ is homozygous (RHDΨ/RHDΨ) or hemizygous
(RHDΨ/del). Therefore, molecular basis of D zygosity determination would be a good
approach to further explore the case.
