A single Thai para-Bombay case was studied by serology, whole-exome/Sanger sequencing and protein modelling. Homozygous FUT1 c.658C>T (p.Arg220Cys; FUT1*01W.09) accompanied ABO*B.01 and a silent FUT2 variant. Modelling suggested impaired substrate interactions without global destabilisation. The result informs compatible transfusion, but mechanism is in silico and evidence comes from one patient.
Key findings
- Serology showed a para-Bombay phenotype with anti-HI and autoantibodies. Genotyping found homozygous ABO*B.01 and FUT1 c.658C>T p.Arg220Cys (FUT1*01W.09), plus silent FUT2 c.390C>T. Modelling predicted preserved global conformation/stability but impaired local interactions and substrate binding.
Why this matters globally
Bombay/para-Bombay phenotypes are rare but high-risk in transfusion. Variant-phenotype maps support international blood banks, rare-donor registries and sequencing interpretation in underrepresented populations.
Thai researcher contribution
King Taksin Memorial Hospital and Thammasat University collaborated with Lund/Skåne teams, linking Thai transfusion service with international genomics and structural modelling.
Limitations to consider
This is one patient without reported enzyme assay or family segregation. AlphaFold/ProtVar predictions are hypotheses, not direct substrate-binding evidence. Autoantibodies complicate serology; Thai allele frequency and penetrance are unknown. Individual transfusion still requires full testing.
Verify the original sources
Transfusion MedicineRead the original article↗DOI: 10.1111/tme.70102