Analysis of RHD variant alleles in serologically D-negative Thai patients: Prevalence and novel discoveries
Issued Date
2026-01-01
Resource Type
ISSN
00411132
eISSN
15372995
Scopus ID
2-s2.0-105029017583
Pubmed ID
41586452
Journal Title
Transfusion
Rights Holder(s)
SCOPUS
Bibliographic Citation
Transfusion (2026)
Suggested Citation
Sinwatcharaphirom T., Tangtanatakul P., Kumar T., Pitakpolrat P., Mekprasan S., Boonbangyang M., Phokaew C., Watanaboonyongchareon P., Rojnuckarin P. Analysis of RHD variant alleles in serologically D-negative Thai patients: Prevalence and novel discoveries. Transfusion (2026). doi:10.1111/trf.70090 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/114887
Title
Analysis of RHD variant alleles in serologically D-negative Thai patients: Prevalence and novel discoveries
Corresponding Author(s)
Other Contributor(s)
Abstract
Background: D-negative blood donors are rare (0.3%) in Thailand. Patients with Asian DEL are D-seronegative but can receive D-positive blood without anti-D alloimmunization. To improve blood management, this study aimed to determine screening methods for detecting RHD variant alleles in serologic D-negative Thai patients. Study Design and Methods: Serologic D-negative blood samples were subjected to adsorption/elution for the DEL phenotype. The Hybrid Rhesus box, RHD exon 4, and RHD1227A were analyzed using polymerase chain reaction (PCR) and Sanger sequencing for RHD1227A. For inconclusive results, whole genome sequencing (WGS) was conducted. Genetic variants on RHD and RHCE genes were confirmed using deletion-spanning PCR and Sanger sequencing. Results: Among 80 patients, 57 (71.3%) cases of total RHD gene deletion, 20 (25.0%) of Asian DEL hemizygosity, two (2.5%) of novel genetic variants, and one (1.2%) with an inconclusive result were identified. Two patients had a novel RHD exon 3 frameshift variant, c.441delG p.V147fs, producing a truncated protein. Serology of all patients with novel variants showed D-negative. The adsorption/elution testing showed 34.8% false positive and 9.4% false negative rates for Asian DEL. Discussion: Our study suggests that PCR and Sanger sequencing for Asian DEL is helpful for serologic D-negative Thai patients, while adsorption/elution is unreliable. WGS, if available, is useful to identify rare and new variants, whereas its cost is not worth for routine testing in the Asian population.