Objective This study aims to investigate and analyze the distribution of MN blood type among ethnic minorities in China. Methods Through a systematic retrieval of the 981 literature related to MN blood group distribution, 120 literature, meeting the criteria of this study, with complete data were selected. The literature covers 49 ethnic minorities. SPSS 26 statistical software was used to analyze the data. Results The results showed that among the 49 ethnic minorities in China, the phenotype distribution of MN blood type was MN>MM>NN, with proportions of 42.54%, 41.86%, and 15.06% respectively. The gene frequency for MN blood type exhibited a trend of m>n, with a gene frequency of m being 0.6313 and n being 0.3687. Cluster analysis divided the Chinese ethnic minorities into three groups based on the gene frequency for m, showing the characteristics of Group I>Group II>Group III. Conclusion The MN blood type characteristics in Chinese ethnic minorities show a higher frequency of the M gene compared to the N gene. The frequency of the M gene is higher in southern ethnic minorities than in northern ones. There are significant differences between southwestern ethnic minorities and the Han nationality, but no differences with long-term mixed/settled Han populations.
Humans ; China/ethnology* ; Minority Groups ; Ethnicity/genetics* ; Gene Frequency ; Asian People/genetics* ; Blood Group Antigens/genetics*

Objective To precisely identify the para-Bombay blood types in cancer patients at our hospital, establish a robust system for the identification of challenging blood types in our laboratory, and provide a foundation for precise transfusion practices. Methods We retrospectively analyzed the blood type results of 91 874 cancer patients from January 1, 2019, to December 31, 2023. Conventional serological methods were used to screen for blood types, and suspected para-Bombay blood types were identified. Further analysis was performed using Pacific Biosciences (PacBio) single-molecule real-time sequencing and Sanger sequencing was used to determine the genotypes of the ABO, FUT1, and FUT2 genes. Results Eight cases of para-Bombay blood type were confirmed through serological and molecular biological methods. The FUT1 genotypes identified were: 5 cases of h1h1 (homozygous mutation 551_552delAG) and 3 cases of h1h2 (compound heterozygous mutations of 551_552delAG and 880_882delTT). The FUT2 genotypes identified were: 2 cases of Se³⁵⁷/Se^{357, 716} and 4 cases of Se³⁵⁷/Se³⁵⁷. Additionally, one sample revealed a novel heterozygous mutation, 818C>T, in exon 7 of the ABO gene, which was confirmed by PacBio sequencing to be located on the O haplotype. Conclusion PacBio sequencing technology demonstrates significant advantages in analyzing the haplotypes of para-Bombay blood type genes. This approach supports the establishment of a robust system for the identification of challenging blood types and provides novel evidence for precise transfusion practices in cancer patients.
Humans ; Neoplasms/genetics* ; Fucosyltransferases/genetics* ; ABO Blood-Group System/genetics* ; Male ; High-Throughput Nucleotide Sequencing/methods* ; Galactoside 2-alpha-L-fucosyltransferase ; Female ; Retrospective Studies ; Genotype ; Middle Aged ; Blood Grouping and Crossmatching/methods* ; Adult ; Mutation ; Aged

Chronic anemia patients (such as thalassemia) often rely on long-term red blood cell transfusion to sustain life. However, alloimmune reactions against blood group antigens can pose serious risks to the patients' clinical treatment and survival. The regulatory mechanisms of transfusion-related alloimmunity are not yet well understood. For example, some patients, despite long-term transfusions, do not develop alloimmune reactions, while others produce alloantibodies against multiple blood group antigens, making transfusion therapy increasingly difficult. Red blood cell blood group alloimmunity involves various immune cells, including antigen-presenting cells and different T cells. Many studies are exploring the regulatory roles and even potential interventions. This article reviews the correlation between cellular immunity and red blood cell blood group antigens in alloimmune responses, and explores the interaction between the two, as well as their impact on immune responses.
Humans ; Immunity, Cellular/immunology* ; Erythrocytes/immunology* ; Blood Group Antigens/immunology* ; Animals ; Isoantibodies/immunology* ; T-Lymphocytes/immunology*

OBJECTIVES: To investigate the readmission rate and risk factors for readmission due to hyperbilirubinemia in neonates with ABO hemolytic disease of the newborn (ABO-HDN), and to construct a risk prediction model for readmission. METHODS: Neonates diagnosed with hyperbilirubinemia due to ABO-HDN and hospitalized in the neonatal department between January 2021 and December 2023 were enrolled. Based on readmission status, neonates were divided into a readmission group and a control group. Clinical characteristics related to hyperbilirubinemia and risk factors for readmission were analyzed. Subsequently, a prediction model for readmission was constructed, and its predictive performance was evaluated. RESULTS: A total of 483 neonates with hyperbilirubinemia due to ABO-HDN were included. The readmission rate was 13.0% (63 cases). Multivariate logistic regression analysis revealed that earlier age at phototherapy initiation, longer duration of phototherapy, occurrence of rebound hyperbilirubinemia, and higher levels of serum total bilirubin and indirect bilirubin at discharge were independent risk factors for hyperbilirubinemia readmission in ABO-HDN neonates (<i>ORi>=2.373, 4.840, 6.475, 5.033, 1.336 respectively; <i>Pi><0.05). A risk prediction model for ABO-HDN hyperbilirubinemia readmission was constructed based on these 5 risk factors. Model evaluation demonstrated good predictive performance. CONCLUSIONS Age at phototherapy initiation, duration of phototherapy, occurrence of rebound hyperbilirubinemia, and serum total bilirubin and indirect bilirubin levels at discharge are significant influencing factors for readmission due to hyperbilirubinemia in neonates with ABO-HDN. Close monitoring during discharge planning and follow-up management for such neonates is crucial to reduce readmission rates.
Humans ; Infant, Newborn ; ABO Blood-Group System ; Risk Factors ; Patient Readmission ; Male ; Female ; Logistic Models ; Hyperbilirubinemia, Neonatal/therapy* ; Erythroblastosis, Fetal ; Bilirubin/blood*

OBJECTIVE: To analyze the serological and molecular biological characteristics of 5 patients with <i>cisi> AB blood group, and to explore the safe transfusion strategy. METHODS: Serological identification of the samples' blood group was performed using anti-A, anti-B, anti-D, anti-A1, anti-H typing reagents and ABO reagent erythrocytes. Molecular biological identification of the samples' blood group was performed using PCR-SSP or gene sequencing. RESULTS: The serological identification results of blood group in 5 patients all showed inconsistent forward and reverse typing, presenting as A₂B₃ or A₂B_w. <i>ABOi> gene sequencing of samples 1, 2 and 3 showed 261delG in exon 6 and 467C>T, 803G>C in exon 7. The genotypes of samples 1, 2 and 3 were determined to be <i>cisAB/Oi> . PCR-SSP genotyping was performed on sample 4 and 5，and the results were both <i>cisAB/Oi> . CONCLUSION Patients with <i>cisABi> alleles have inconsistent serological manifestations, and genetic testing is necessary to ensure the safety and effectiveness of blood transfusion.
Humans ; ABO Blood-Group System/genetics* ; Blood Transfusion ; Blood Grouping and Crossmatching ; Genotype ; Blood Group Antigens/genetics* ; Alleles ; Male ; Female

OBJECTIVE: The distribution of irregular erythrocyte antibodies in the blood transfusion department of the People's Hospital of Xinjiang Uygur Autonomous Region from 2011 to 2022 and the relationship between irregular erythrocyte antibodies and ethnicity, gender, pregnancy history, blood transfusion history were retrospectively analyzed. METHODS: The irregular antibody screening data of patients who were proposed to receive blood transfusions in the clinical blood transfusion safety and blood management software of our hospital from 2011 to 2022 were collected for a retrospective study, and the distribution of irregular erythrocyte antibodies from 2011 to 2022 was analyzed. The relationship between ethnicity, gender, pregnancy history, blood transfusion history and the detection rate of irregular erythrocyte antibodies was further analyzed. RESULTS: From 2011 to 2022, the positive detection rate of irregular erythrocyte antibodies in 329 270 samples was 0.77%. Rh blood group (43.72%), Lewis blood group (9.90%) and MNS blood group (6.44%) accounted for the highest proportion of irregular erythrocyte antibody positive samples. In Rh blood group, the proportion of anti-D and anti-E in positive samples was the highest, with 19.09% and 16.06%, respectively. In MNS blood group, the proportion of anti-M in positive samples was the highest (5.46%). In Lewis blood group, the proportion of anti-Le^a in positive samples was the highest (8.80%). Compared with other ethnic groups, the detection rates of irregular erythrocyte antibodies were significantly higher in Han, Hui and Uyghur ethnic groups (<i>Pi> < 0.001). Irregular erythrocyte antibody positive samples in Rh blood group system were concentrated in Han and Uygur ethnic groups. Compared to males and patients without a history of blood transfusion and pregnancy, female patients and patients with a history of blood transfusion and pregnancy had significantly higher detection rates of irregulart erythrocyte antibodies (<i>Pi> < 0.01). CONCLUSION The results of irregular antibody screening before blood transfusion showed that Rh blood group system antibodies were the main type of irregular antibodies, and the screening of various Rh blood group antigens should be strengthened. And the screening should be focused on female, patients with blood transfusion history and pregnancy history, as well as ethnic minority patients.
Humans ; Retrospective Studies ; Female ; Blood Transfusion ; China ; Rh-Hr Blood-Group System/immunology* ; Male ; Erythrocytes/immunology* ; Pregnancy ; Isoantibodies/blood* ; Blood Grouping and Crossmatching ; Antibodies ; Adult ; Blood Group Antigens/immunology*

OBJECTIVE: By analyzing the correlation between genotypes and phenotypes, we explored the impact of the variant <i>c.917T>Ci> (p.L306P) in the <i>ABO*B.01i> allele on the expression and function of B-glycosyltransferase (GTB). This study aims to elucidate the molecular mechanisms underlying the occurrence of this subtype. METHODS: The study subjects included a blood donor specimen with incompatible forward and reverse ABO typing results. ABO phenotyping was determined using ABO blood group serology and GTB activity testing. Subsequently, Sanger sequencing and third-generation sequencing based on the PacBio platform were employed to sequence the <i>ABOi> gene, resulting in the determination of haplotype sequences. Mutations were identified through sequence alignment. An <i>in vitroi> cell expression system was established to assess the impact of the mutation site on antigen expression. RESULTS: The index case in this study was identified as B subtype with the allelic genotype <i>c.917T>Ci> in <i>ABO*B.01/ABO*O.01.01i> , which has not been previously reported. <i>in vitroi> expression results revealed decreased levels of GTB expression and overall GTB activity in the mutant cells. Furthermore, the expression of the B antigen on the cell membrane was weaker in the mutant cells compared to the wild-type cells. CONCLUSION The p.L306P variation caused by the <i>c.917T>Ci> mutation in the <i>ABO*B.01i> allele may be a genetic factor contributing to the reduced expression of B antigens on the surface of red blood cells.
Humans ; ABO Blood-Group System/genetics* ; Alleles ; Genotype ; Mutation ; Glycosyltransferases/genetics* ; Haplotypes ; Phenotype

OBJECTIVE: To analyze the <i>RHDi> genotyping and sequencing results of RhD serology negative samples in the clinic, and to further explore the laboratory methods for RhD detection, in order to provide a basis for clinical precision blood transfusion. METHODS: A total of 27 200 whole blood samples were screened for RhD blood group antigen using microcolumn gel card method.Serologic RhD-negative confirmation tests were performed on blood samples that were negative for RhD on initial screening using three different clonal strains of IgG anti-D reagents. The 10 exons of the <i>RHDi> gene on chromosome 1 were also analyzed by PCR-SSP to determine <i>RHDi> genotyping.When the PCR-SSP method did not yield definitive results, the <i>RHDi> gene of the sample was analyzed by the third-generation sequencing. RESULTS: The results of the initial screening test by the microcolumn gel card method showed that 136 of the 27 200 samples were RhD-negative, of which 86 underwent RhD-negative confirmation testing and <i>RHDi> genotyping, 88.37% (76/86 cases) of the RhD-negative confirmation test results were negative for the three anti-D reagents, and the results of <i>RHDi> genotyping showed that 67.44% (58/86 cases) of the cases had a complete deletion of 10 exons, and the remaining 28 cases were <i>RHD*711delCi> (1 case), <i>RHD*D-CE(1-9)-Di> (1 case), <i>RHD*D-CE(2-9-)Di> (2 cases), <i>RHD*D-CE(3-9)-Di> (4 cases), <i>RHD*DEL1 (c.1227G >A)i> mutation (16 cases), <i>RHD*weak partial 15(845G >A)i> mutation (3 cases), and a mutation of c.165C >T base was found in 1 sample by three-generation sequencing. CONCLUSION <i>RHDi> genotype testing of samples that are serologically negative for RhD antigen shows that some of the samples have <i>RHDi> gene variants, not all of which are total deletions of <i>RHDi>, suggesting that there are some limitations of the serologic method for RhD detection. Due to the polymorphism of the <i>RHDi> gene structure, different RhD variants present different serologic features, which need to be further detected in combination with molecular biology testing, especially for the identification of Asian-type DELs, which is important for clinical precision blood transfusion.
Humans ; Rh-Hr Blood-Group System/genetics* ; Genotype ; Polymerase Chain Reaction ; Exons ; Blood Grouping and Crossmatching

OBJECTIVE: To analyze the B_el subtype gene mutation and its genetic mechanism in a family line. METHODS: ABO blood groups were identified by serologic tests. <i>ABOi> genotyping was performed by polymerase chain reaction with sequence-specific primer (PCR-SSP). Sanger sequencing was performed on exons 1-7 of the <i>ABOi> gene, the flanking intronic region, and exon 7 of the single strand of the gene confirmed the mutation site location. Missense3D software was used to predict the protein structure alteration caused by this mutation. RESULTS: Conventional serologic tests failed to detect erythrocyte B antigen in the proband and her three family members, and only trace amounts of B antigen expression could be detected by the absorption-dispersal test. DNA analysis showed that, on the basis of the normal <i>ABOi> gene, there was a G>T substitution in the position of exon 7, position 803, which resulted in the change of amino acid 268 from Gly to Val. Further single-stranded sequencing analysis showed that the mutation site was located in the <i>Bi> gene. CONCLUSION In this family line, the proband, her father, her son, and her daughter all have reduced <i>Bi> type glycosyltransferase activity due to the new point mutation (c.803G>T) in exon 7 of the <i>Bi> gene, and the B antigen can only be detected by the absorption-dispersal method, and the point mutation can be stably inherited by offspring.
Point Mutation ; Alleles ; ABO Blood-Group System/genetics* ; Exons ; Introns ; Genotype ; Humans ; Male ; Female ; Glycosyltransferases/genetics*

OBJECTIVE: To analyze the origin and influencing factors the titer of ABO blood group antibody in neonates. METHODS: A total of 303 newborn blood samples collected in our hospital from August 2023 to March 2024 were selected for the detection of ABO blood group settings and the determination of the total titers of IgG and IgM blood group antibodies in plasma. IgM antibodies were treated with dithithreitol (DTT) to determine the titers of IgG antibodies. The total titer of the blood group antibody was compared with that of the IgG antibody. The clinical data of mothers and newborns were collected, and the correlation between the antibody titer and these clinical data was analyzed. RESULTS: Among the 303 newborn specimens, 14 cases (4.62%) were identified to possess blood group antibodies. The influence of the maternal ABO blood group on the generation of high-potency blood group antibodies in newborns was observed to follow the order of O>B>A>AB, with a significant statistical difference ( <i>Pi> < 0.01). Of the 123 (40.59%) newborns born to mothers of type O, 121 (98.37%) had blood group antibody titers > 2. Of the 20 (6.60%) newborns born to mothers of type AB, all 20 (100.00%) had blood group antibody titers < 2. Among 89 (29.37%) mothers of type A and 71 (23.43%) mothers of type B, the titer of 100% newborn blood group antibody was less than 2, when the newborn blood group was incompatible with the mother's blood group; the titer of the newborn blood type antibody was higher or lower, when the newborn blood type was compatible with the mother's blood type. The titer of the newborn blood group antibodies is related to the number of pregnancies of the mothers and has no association with other clinical data (such as the mother's number of obortions), the number of production, fetal gestation age. CONCLUSION The majority of ABO blood group antibodies in neonates are IgG antibodies from the mothers, and few are produced by the neonates themselves. In some neonates, IgG anti-A and/or anti-B can agglutinate with anti-stereotyped cells at room temperature. The maternal ABO blood type is the primary factor influencing the titer of the newborn blood type. The number of maternal pregnancies is a factor affecting the high titer ABO blood group antibodies in newborns.
Humans ; Infant, Newborn ; ABO Blood-Group System/immunology* ; Female ; Immunoglobulin G/blood* ; Immunoglobulin M/blood* ; Pregnancy ; Blood Grouping and Crossmatching