OBJECTIVETo explore the molecular basis of an individual with A subtype of the ABO blood group.

METHODSThe ABO antigen and serum antibody of the proband and his parents and sister were detected by a serological method. The whole coding regions of the ABO gene were amplified by PCR and subjected to bidirectional sequencing.

RESULTSRed blood cells of the proband showed mixed field agglutination with anti-A but did not agglutinate with anti-B, and his serum did not agglutinate with A and O cells but with B cells. The proband was identified as an Aw phenotype. Heterozygous status of 1A/G, 106G/T, 188A/G, 189C/T, 220C/T, 261G/del, 297A/G, 467C/T, 646A/T, and 681A/G of the coding region of the ABO gene were identified by directly sequencing of the proband. The serological characteristics and nucleotide sequences of the mother were similar to those of the proband. However, the ABO genotypes of his father and sister were B101/O02 and O02/O02. The proband therefore has carried an O02 allele and a novel allele. Compared with A102, the novel allele contains 1A>G, which resulted in translation-initiator code change and was nominated as Aw43 by dbRBC of NCBI.

CONCLUSIONAn Aw43 subtype has been identified for the first time, which may be attributed to the 1A>G and 467C>T variants on the α1,3-N-acetyl-galactosaminyltransferase gene.

ABO Blood-Group System ; genetics ; Adult ; Alleles ; Female ; Genetic Variation ; genetics ; Genotype ; Humans ; Male

【Objective】 To explore the influence of maternal blood donation before pregnancy on neonatal birth weight. 【Methods】 A total of 6 428 full-term (gestational age ≥37 weeks) singleton pregnant women in Ningbo Medical Center Lihuili Hospital and Ningbo Women and Children′s Hospital from January 2020 to October 2020 were enrolled in this study. The cumulative whole blood donations before pregnancy were obtained through Alipay software. The relevant data of parturients and their fetuses were collected from electronic medical records. 【Results】 The maternal blood donation rate in Zhejiang Province before pregnancy was 14.69%. The average age of women was 29 (27-32), and the median of cumulative blood donation (except 0 mL) before pregnancy was 300 mL. Univariate analysis showed that there was no significant difference in neonatal gender, neonatal birth weight, proportion of low birth weight infants and proportion of macrosomia among non blood donation group, low blood donation group and high blood donation group (P>0.05). After multiple linear regression analysis, it was found that there was no correlation between blood donation before pregnancy and the neonatal birth weight (B=0.123, 95%CI: -1.013-8.461, P>0.05). Multivariate Logistic regression analysis showed that, compared with the non blood donation group, the occurrence of macrosomia was higher in both the low blood donation group and the total blood donation group (OR=1.366, 95%CI: 1.007-1.766, P<0.05; OR=1.369, 95%CI: 1.019-1.851, P<0.05). 【Conclusion】 Maternal blood donation before pregnancy may not be related to neonatal birth weight, but may be related to the probability of macrosomia in their offspring.