Open AccessRHD Positive Haplotype in D Negative Omani Blood Donor
Author(s) -
Mujtaba Allawati,
Badriya Al Balushi
Publication year - 2023
Publication title -
oman medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 31
eISSN - 2070-5204
pISSN - 1999-768X
DOI - 10.5001/omj.2023.11
Subject(s) - exon , medicine , haplotype , phenotype , rh blood group system , gene duplication , zygosity , genetics , population , gene , mutation , allele , antibody , immunology , biology , environmental health
The frequency of RhD negative in Omanis is 8.35% but the molecular background explaining this phenotype is unknown in this population. The RhD negative phenotype has a high molecular diversity. We describe a case report of serological D negative with existence of complete RHD gene in an Omani 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 were 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.