A Very Rare Case with Particular H-deficient Phenotypes

Abstract

Bombay phenotype, H partially deficient non secretor phenotype and Para-Bombay phenotype are rare blood groups with deficiency or absence of H antigen. A 52-year-old female with Chronic suppurative otitis media was referred to our hospital. The primary serologic results of ABO blood typing were discrepant in forward and reverse grouping. Further, the saliva secretion tests, the pedigree studies and the sequence analysis were performed to confirm the rare phenotype. The patient was diagnosed as a variant H-deficient phenotype, secretor (para-bombay). Red cells of the patient have no H antigens, and it's a very interesting thing that there were two opposite results in the saliva test by using different anti-H. The test showed that H substances were present in the saliva by using anti-H from Libo Biotechnology Co, while which were absent by using anti-H from Shanghai blood center. The patient's Lewis phenotype was Le (a-b+). Anti-HI was present in the sera of her. The sequence of the ABO gene of the patient was 261delG and 467C>T heterozygote by direct DNA sequencing and was assigned as A102/O01. There were two mutations of the patient's FUT1, 328G/A and 658C/T, which were identified by DNA sequencing compared with the reference sequence (GenBank, NG_007510.2). In this case, we report a patient with particular H-deficient phenotype, secretor, which showed opposite results in the saliva test by using anti-H from different sources. We suspect that it is a variant of para-Bombay phenotype.

Keywords: Blood group; H-deficient phenotypes; Red cell.

Fig. 1

Results of partial sequencing of ABO gene for the patient. a Heterozygous peaks of the exon6 261delG. b Heterozygous peaks of the exon7 467C>T

Fig. 2

Results of partial sequencing of FUT1 gene for the patient. a Heterozygous peaks of the FUT1 328G/A. b Heterozygous peaks of the FUT1 658C/T