LAUSR

T he H blood group phenotype is uniquely dependent on the expression of a-(1, 2)-fucosyltransferase enzyme, the product of FUT1 gene. The Bombay and para-Bombay phenotypes in the H blood group are characterized by the deficiency of H blood group antigens on red blood cells (RBCs). It was proved that the inactive alleles of the FUT1 will affect the H antigen expression on RBCs and result in the Bombay and para-Bombay phenotypes. Currently, more than 55 silencing or weakening mutations of FUT1 have been described in the dbRBC of NCBI. Here, we report a novel mutation c.49T>C of FUT1 that was identified in an individual with paraBombay phenotype in China.