Identification and pedigree investigation of B(A) and cisAB blood groups / 中国输血杂志

【Objective】 To investigate the serological and molecular genetic characteristics of B(A) and cisAB blood groups discovered in our laboratory. 【Methods】 ABO blood group serology and genetic tests were used to identify blood groups of 6 blood samples, submitted by blood center and hospitals in Shandong, and pedigree investigation was carried on 2 of them. 【Results】 Among the 6 samples, serological results were B(A) in 5 cases and cisAB in 1 case. The results of genetic tests were consistent with the serological results, as the alleles included B(A)04, B(A)02 and cisAB01, and all genotypes were heterozygous with O. Serological pedigree study was conducted on 2 samples: One cisAB patient with his 4 relatives(cisAB type father and three O type relatives) and one B(A)02/O1 donor with his 3 relatives[ B(A) type father/brother and O type mother). For B(A)02/O1 donor, the results of genetic testing were consistent with the serological results, as the paternal genotype was the same as that of the proband, the younger brother was B(A)02/O2, and the maternal genotype was O1/O2. 【Conclusion】 The cisAB and B(A) blood groups are often indistinguishable by serological phenotypes and require genetic confirmation. CisAB pedigree investigation revealed 2 cases of cisAB blood type and B(A) pedigree investigation revealed 3 cases of B(A). The genotyping of cisAB and B(A) in this region were cisAB01/O2, B(A)02/O1, B(A)02/O2, B(A)04/O1 and B(A)04/O2. B(A)and cisAB subtypes can be accurately identified through genetic testing and pedigree investigation, which can provide a reliable basis for blood transfusion selection and ensure the safety of clinical blood transfusion.

Identification of a rare platelet-specific antigen HPA-10bw allele among ethnic Han Chinese population in Shandong / 中华医学遗传学杂志

OBJECTIVE@#To study the polymorphism of human platelet antigen (HPA) system 10 among ethnic Han Chinese from Shandong, China so as to supplement the data of platelet donor bank in the region.@*METHODS@#Peripheral blood samples of platelet donors from the region were genotyped for HPA-10 alleles by PCR-sequence specific primer (PCR-SSP) and direct sequencing.@*RESULTS@#Among 1401 donors, a rare heterozygote carrier of HPA-10w (a+b+) was identified, which gave an allelic frequency of approximately 0.035%.@*CONCLUSION@#The detection of rare HPA-10bw antigen allele among ethnic Han Chinese from Shandong is useful for the diagnosis and prevention of neonatal alloimmune thrombocytopenia and post-transfusion purpura in the region.