[Mutational analysis for FUT1 gene in two cases with para-Bombay blood type]

To study two cases of rare para-Bombay blood types Bmh and Amh in order to determine clinical strategies of blood transfusion.

ABO blood type was determined with serological assays. The samples were also genotyped with polymerase chain reaction-sequence specific primer (PCR-SSP) for potential mutations in α-1,2-fucosyltransferase gene (FUT1). The results were verified with direct sequencing.

Two rare para-Bombay blood types, namely Bmh and Amh, were identified by serological method, with one being BO1 which contained a FUT1 allele 547-548delAG deletion (h1h1), and another being A205O2 which contained FUT1 allele a 547-548delAG deletion and a FUT1 allele 658C/T missense mutation (h1h3).

FUT1 allele 547-548delAG deletion and 658C>T missense mutation in part form the molecular basis of para-Bombay blood types. As Bmh and Amh contain anti-HI in sera, great attention should be paid to avoid adverse reaction of blood transfusion in clinics.