目的: 探讨血液病所致患者ABO血型抗原减弱的主要原因和血型血清学鉴定方法。方法: 采用全自动血型分析仪对临床待检标本进行ABO血型血清学初步鉴定,对ABO血型正定型凝集强度<3+和反定型<2+的患者血标本,再采用经典试管法进行ABO正反定型、唾液实验、吸收放散试验、亲和力实验等血型血清学实验进行鉴定。此外,通过PCR-SSP基因分型检测试剂盒对样本进行基因分型;通过对ABO基因1-7号外显子进行测序以确认基因突变位点。结果: 在67例血液病所致ABO血型抗原减弱患者中,包含白血病30例（44.7% ）、血液系统疾病待查26例（38.9% ）、骨髓增生异常综合征9例（13.4% ）、非霍奇金淋巴瘤1例（1.5% ）、慢性骨髓炎1例（1.5%）;其中A 抗原减弱者43例（64.2% ）、B 抗原减弱者23例（34.3%）、AB抗原减弱者1例（1.5% ）;H抗原增强者2例（2.98%）。 PCR-SSP基因分型以及ABO基因1-7号外显子进行测序分析发现了一些新的突变位点,包括7号外显子的607G>A,734C>T,6号外显子的259G>T,261delG,5号外显子的239G>A,以及1号外显子的18insTTGCA。结论: 白血病是导致ABO血型抗原减弱的主要原因;综合分析临床资料和采用血型血清学方法,可与ABO亚型进行区分,正确鉴定出ABO血型,确保临床输血安全。
Abstract
Objective To explore the main causes of ABO blood group antigen reduction in patients with diseases and the method of blood group serological identification. Methods ABO blood group serological identification was performed on clinical specimens to be tested by automatic blood group analyzer. Blood samples of patients with positive and negative ABO type agglutination intensity < 3+ and negative ABO type agglutination intensity <2+ were identified by classical test tube method, such as ABO positive and negative stereotyping, saliva test, absorption and release test, affinity test and other blood group serological tests. the samples were genotyped by PCR-SSP genotyping assay kit; and exons 1-7 of the ABO gene were sequenced to confirm the mutation sites. Results Among 67 patients with ABO blood group antigen weakened due to disease, there were 30 patients with leukemia (44.7%), 26 patients with hematological diseases (38.9%), 9 patients with myelodyspllastic syndrome(MDS) (13.4%), 1 patient with non-Hodgkin lymphoma (1.5%), and 1 patient with chronic osteomyelitis (1.5%).43 cases (64.2%) with A antigen weakened, 23 cases (34.3%) with B antigen weakened, and 1 case (1.5%) with AB antigen weakened. There were 2 cases (2.98%) with enhanced H antigen, and the other intensities were unchanged. PCR-SSP genotyping and sequencing of exons 1-7 of theABOgene identified some new mutation sites, including 607G>A, 734C>T in exon 7, 259G>T, 261delG in exon 6, 239G>A in exon 5, and 18insTTGCA in exon 1. Conclusion Leukemia is the main cause ofABOblood group antigen weakening. By comprehensive analysis of clinical data and using blood group serology,ABO blood group can be distinguished from ABO subtype and correctly identified to ensure the safety of clinical transfusion.
关键词
ABO血型 /
抗原减弱 /
血液病 /
基因突变
Key words
ABO blood group /
weaken ABO antigen /
hematopathy /
gene mutant
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
参考文献
[1] Bertsch T, Ludecke J, Antl W, et al.Karl Landsteiner: The Discovery of theABOblood group system and its value for teaching medical students[J]. Clin Lab, 2019, 65(6) .
[2] Liu J, Wang D.ABO(H) and Lewis blood group substances and disease treatment[J]. Transfus Med, 2022, 32(3): 187-192.
[3] Sun W, He T, Han J, et al.[Genetic analysis of weakened expression ofABOblood group antigen in 20 cases]. Nan Fang Yi Ke Da Xue Xue Bao, 2021, 41(9): 1431-1435.
[4] Liu F, Gu L.Serology and gene sequence analysis of the B (A) subtype of patients in Hunan[J]. Transfus Apher Sci, 2022, 61(5): 103449.
[5] Liu M, Ji S, Xu W, et al.ABO blood group and the risk of pancreatic neoplasms in Chinese Han Population: A Study at Shanghai Pancreatic Cancer Institute[J]. Pancreas, 2019, 48(9): e65-e66.
[6] Prakash S, Mohapatra S, Bhagavathi MS, et al.Loss and reappearance of A antigen after chemotherapy leading to blood group discrepancy in acute myeloid leukemia: A case report[J]. Lab Med, 2021, 52(5): 509-513.
[7] Jeong IH, Seo JY, Choi S, et al.ABOblood group antigen changes in acute myeloid leukemia and no significant association with RUNX1 and GATA2 somatic variants[J]. Ann Lab Med, 2023, 43(6): 635-637.
[8] Misaki Y, Kako S, Kawamura S, et al.Persistent expression of recipient-type ABH antigen after ABO-incompatible allogeneic hematopoietic stem cell transplantation[J]. Intern Med, 2022, 61(12): 1887-1890.
[9] Tajima K, Takizawa K, Yasuda T, et al.Characterization of reemergent anti-B red blood cell antibodies in a patient with recurrent acute myeloid leukemia with ABO-incompatible allogeneic peripheral blood stem cell transplantation[J]. Transfusion, 2019, 59(11): 3319-3323.
[10] Karamatic Crew V, Tilley LA, Satchwell TJ, et al.Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens[J]. Blood, 2023, 141(2): 135-146.
[11] Jacobs JW, Binns TC, Abels E, et al.Alloimmunization following antigen-negative red blood cell transfusion[J]. Transfusion, 2023, 63(2): 430-434.
[12] Jadhao S, Hoy W, Lee S, et al.The genomic landscape of blood groups in Indigenous Australians in remote communities[J]. Transfusion, 2022, 62(5): 1110-1120.
[13] Liu F, Li G, Li J, et al.A novel mutation eliminates GATA-1 and RUNX1-mediated promoter activity in galactosyltransferase gene[J]. Transfus Med Hemother, 2022, 49(6): 331-337.
[14] Shao M, Lyu XP, Tang P, et al.[Comparison of weakABOantigen and normalABOantigen in patients with acute leukemia][J]. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2017, 25(5): 1307-1313.
[15] Yousuf FA, Kazmi K, Iqbal J, et al.Higher DNA methylation ofABOgene promoter is associated with acute myocardial infarction in a hospital-based population in Karachi[J]. Pak J Med Sci , 2020, 36(3): 505-510.
[16] Bianco-Miotto T, Hussey DJ, Day TK, et al.DNA methylation of theABOpromoter underlies loss ofABOallelic expression in a significant proportion of leukemic patients[J]. PLoS One 2009, 4(3): e4788.
[17] Wang C, Zhou J, Wang L, et al.ABOblood groups and expression of blood group antigens of epithelial ovarian cancer in Chinese women[J]. Cancer Med , 2023, 12(6): 7498-7507.
[18] Westhoff CM.Blood group genotyping[J]. Blood , 2019, 133(17): 1814-1820.
[19] Ristovska E, Bojadjieva TM, Velkova E, et al.Rare blood groups in ABO, Rh, Kell systems - biological and clinical significance[J]. Pril (Makedon Akad Nauk Umet Odd Med Nauki) , 2022, 43(2): 77-87.
[20] Lasic L, Kalajdzic A, Stroil BK, et al.Molecular variation of Rh, MN, Duffy, Kidd, Kell, and Lutheran blood groups in the human population of Bosnia and Herzegovina[J]. Hum Biol , 2021, 92(2): 81-92.
[21] Yi L, Hu Q, Zhou J, et al.Alternative splicing of Ikaros regulates the FUT4/Le (X) -alpha5beta1 integrin-FAK axis in acute lymphoblastic leukemia[J]. Biochem Biophys Res Commun, 2019, 510(1): 128-134.
[22] Lei H, Wang Z, Wang Y, et al.Two novel mutations p. L319V and p. L91P inABOglycosyltransferases lead to A (el) and B (el) phenotypes[J]. Blood Transfus, 2020, 18(6): 471-477.
[23] Lin PH, Li L, Lin-Tsai SJ, et al.A unique 502C>T mutation in exon 7 ofABOgene associated with the Bel phenotype in Taiwan[J]. Transfusion, 2003, 43(9): 1254-1259.
基金
湖南省自然科学基金面上项目（2022JJ30900）
PDF(1833 KB)
