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Kuang XC, Zhang SH, Cen YJ, Zhang JB, Liu YS. Blood typing and transfusion therapy in a patient with A2 subtype acute myeloid leukemia M2: A case report. World J Clin Cases 2023; 11:3813-3821. [PMID: 37383120 PMCID: PMC10294153 DOI: 10.12998/wjcc.v11.i16.3813] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/10/2022] [Revised: 02/25/2023] [Accepted: 04/20/2023] [Indexed: 06/02/2023] Open
Abstract
BACKGROUND Acute myeloid leukemia (AML) is one of the most common types of leukemia in adults. However, AML is relatively rare in the population overall, accounting for only about 1 percent of all cancers. Treatment for AML can be very effective for some patients, yet it leaves others with serious and even life-threatening side effects. Chemotherapy is still the primary treatment for most AML, but over time, leukemia cells become resistant to chemotherapy drugs. In addition, stem cell transplantation, targeted therapy, and immunotherapy are currently available. At the same time, with the progression of the disease, the patient may have corresponding complications, such as coagulation dysfunction, anemia, granulocytopenia, and repeated infection, so transfusion supportive therapy will be involved in the overall treatment regime. To date, few articles have reported on blood transfusion treatment options for patients with ABO subtypes AML-M2. Blood transfusion therapy is an important supportive treatment for AML-M2, and accurate determination of patients' blood type is one of the most important steps in the treatment process. In this study, we explored blood typing and supportive treatment strategies for a patient with A2 subtype AML-M2 to provide the basis for treatment for all patients.
CASE SUMMARY In order to determine the blood type of the patient, serological and molecular biological methods were used for reference tests, and the genetic background was studied to determine the patient's final blood type and select the appropriate blood products for infusion treatment. According to the results obtained by serological and molecular biological methods, the blood type of the patient was A2 subtype; the genotype was A02/001; the irregular antibody screening was negative, and anti-A1 was found in the plasma. According to the overall treatment plan, active anti-infection, elevated cells, component blood transfusion support, and other rescue and supportive treatments were given, and the patient successfully passed the stage of myelosuppression after chemotherapy. Re-examination of bone marrow smears showed that AL was in complete remission of bone marrow signs, and minimal residual leukemia lesions suggested no cells with obvious abnormal immunophenotype (residual leukemia cells < 10-4).
CONCLUSION The infusion of patients with A2 subtype AML-M2 with A irradiated platelets and O washing red blood cells can meet the needs of clinical treatment.
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Affiliation(s)
- Xiao-Chuan Kuang
- Department of Clinical Laboratory, Sichuan Provincial People's Hospital, Sichuan Academy of Medical Sciences, Chengdu 610000, Sichuan Province, China
| | - Shi-Hua Zhang
- Department of Gastroenterology, Pidu District People's Hospital, Chengdu 610000, Sichuan Province, China
| | - Yi-Jing Cen
- Department of Clinical Laboratory, Sichuan Provincial People's Hospital, Sichuan Academy of Medical Sciences, Chengdu 610000, Sichuan Province, China
| | - Jian-Bo Zhang
- Department of Clinical Laboratory, Sichuan Provincial People's Hospital, Sichuan Academy of Medical Sciences, Chengdu 610000, Sichuan Province, China
| | - Yu-Song Liu
- Department of Clinical Laboratory, Sichuan Provincial People's Hospital, Sichuan Academy of Medical Sciences, Chengdu 610000, Sichuan Province, China
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Jajosky RP, Wu SC, Zheng L, Jajosky AN, Jajosky PG, Josephson CD, Hollenhorst MA, Sackstein R, Cummings RD, Arthur CM, Stowell SR. ABO blood group antigens and differential glycan expression: Perspective on the evolution of common human enzyme deficiencies. iScience 2023; 26:105798. [PMID: 36691627 PMCID: PMC9860303 DOI: 10.1016/j.isci.2022.105798] [Citation(s) in RCA: 29] [Impact Index Per Article: 14.5] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/15/2022] Open
Abstract
Enzymes catalyze biochemical reactions and play critical roles in human health and disease. Enzyme variants and deficiencies can lead to variable expression of glycans, which can affect physiology, influence predilection for disease, and/or directly contribute to disease pathogenesis. Although certain well-characterized enzyme deficiencies result in overt disease, some of the most common enzyme deficiencies in humans form the basis of blood groups. These carbohydrate blood groups impact fundamental areas of clinical medicine, including the risk of infection and severity of infectious disease, bleeding risk, transfusion medicine, and tissue/organ transplantation. In this review, we examine the enzymes responsible for carbohydrate-based blood group antigen biosynthesis and their expression within the human population. We also consider the evolutionary selective pressures, e.g. malaria, that may account for the variation in carbohydrate structures and the implications of this biology for human disease.
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Affiliation(s)
- Ryan Philip Jajosky
- Joint Program in Transfusion Medicine, Brigham and Women’s Hospital, Harvard Medical School, 630E New Research Building, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
- Biconcavity Inc, Lilburn, GA, USA
| | - Shang-Chuen Wu
- Joint Program in Transfusion Medicine, Brigham and Women’s Hospital, Harvard Medical School, 630E New Research Building, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
| | - Leon Zheng
- Joint Program in Transfusion Medicine, Brigham and Women’s Hospital, Harvard Medical School, 630E New Research Building, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
| | - Audrey N. Jajosky
- University of Rochester Medical Center, Department of Pathology and Laboratory Medicine, West Henrietta, NY, USA
| | | | - Cassandra D. Josephson
- Cancer and Blood Disorders Institute and Blood Bank/Transfusion Medicine Division, Johns Hopkins All Children’s Hospital, St. Petersburg, FL, USA
- Departments of Oncology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
| | - Marie A. Hollenhorst
- Department of Pathology and Department of Medicine, Stanford University, Stanford, CA, USA
| | - Robert Sackstein
- Translational Glycobiology Institute, Herbert Wertheim College of Medicine, Florida International University, Miami, FL, USA
| | - Richard D. Cummings
- Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
| | - Connie M. Arthur
- Joint Program in Transfusion Medicine, Brigham and Women’s Hospital, Harvard Medical School, 630E New Research Building, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
| | - Sean R. Stowell
- Joint Program in Transfusion Medicine, Brigham and Women’s Hospital, Harvard Medical School, 630E New Research Building, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
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Lei H, Lu Q, Xiang D, Wang X, Cai X. ABO gene mutation c.815_816insG in an African individual forms a novel A el allele. Transfusion 2021; 61:E51-E52. [PMID: 33899249 DOI: 10.1111/trf.16419] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/04/2021] [Revised: 03/26/2021] [Accepted: 04/05/2021] [Indexed: 11/26/2022]
Affiliation(s)
- Hang Lei
- Transfusion Department, Ruijin Hospital, Medical School of Shanghai Jiao Tong University, Shanghai, China
| | - Qiong Lu
- Blood Group Reference Laboratory, Institute of Blood Transfusion, Shanghai Blood Center, Shanghai, China
| | - Dong Xiang
- Blood Group Reference Laboratory, Institute of Blood Transfusion, Shanghai Blood Center, Shanghai, China
| | - Xuefeng Wang
- Transfusion Department, Ruijin Hospital, Medical School of Shanghai Jiao Tong University, Shanghai, China
| | - Xiaohong Cai
- Transfusion Department, Ruijin Hospital, Medical School of Shanghai Jiao Tong University, Shanghai, China
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Chen Q, Li J, Xiao J, Du L, Li M, Yao G. Molecular genetic analysis and structure model of a rare B(A)02 subgroup of the ABO blood group system. Transfus Apher Sci 2014; 51:203-8. [PMID: 25217989 DOI: 10.1016/j.transci.2014.08.023] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/24/2014] [Revised: 08/08/2014] [Accepted: 08/25/2014] [Indexed: 10/24/2022]
Abstract
BACKGROUND Serological analysis of ABO blood group has been widely applied in transfusion medicine. However, ABO subgroups with different expression of blood group antigens sometimes cannot be determined by serological methods. Therefore, genotyping is useful to understand the variant ABO phenotypes. MATERIAL AND METHODS Exon 6 to exon 7 and adjacent introns of the ABO gene from a donor with ABO typing discrepancy were amplified and sequenced. Cloning sequencing was also performed to identify the allele. To explore the effect of mutation, three dimensional model of mutant p.Pro234Ala was built and optimized. RESULTS The variant B (c. 700C > G) allele expressed an AweakB phenotype with anti-A in his serum with a ABO*B(A)02/O02 heterozygote genotype. Cloning sequencing confirmed that the c.700C > G single nucleotide polymorphism was associated with a B101 allele. Three dimensional molecular modeling suggested that p.Pro234Ala might affect the conformation of His233, Met266 and Ala268, which were known as critical residues for donor recognition. CONCLUSION ABO genotyping is needed for correct identification subgroups to improve accuracy evaluation of blood typing and increase the safety of blood transfusion. Alteration of DNA sequence in the ABO gene resulted in amino acid substitutions and led to a weak or missing expression of ABO antigens.
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Affiliation(s)
- Qing Chen
- Jiangsu Province Blood Center, Nanjing 210042, China
| | - Jiahuang Li
- The State Key Laboratory of Pharmaceutical Biotechnology, School of Life Science, Nanjing University, Nanjing 210093, China
| | - Jianyu Xiao
- Jiangsu Province Blood Center, Nanjing 210042, China
| | - Leilei Du
- Department of Medical Mycology, Institute of Dermatology, Chinese Academy of Medical Science, Peking Union Medical College, Nanjing 210042, China
| | - Min Li
- Department of Medical Mycology, Institute of Dermatology, Chinese Academy of Medical Science, Peking Union Medical College, Nanjing 210042, China
| | - Genhong Yao
- Department of Rheumatology and Immunology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
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Molecular characterization of weaker variants of A and B in Indian population--the first report. Transfus Apher Sci 2013; 50:118-22. [PMID: 24238826 DOI: 10.1016/j.transci.2013.10.002] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/03/2013] [Revised: 09/30/2013] [Accepted: 10/15/2013] [Indexed: 11/23/2022]
Abstract
BACKGROUND AND OBJECTIVES The ABO blood group system is extremely important blood group system in transfusion medicine and weaker variants of A and B are subgroups of the system. From a Country like India with 1.2 billion population sporadic reports detecting weaker variants of A and B serologically are published. Therefore the main objective of the present study is to identify weaker variants of A and B serologically and characterize them at molecular level. MATERIALS AND METHODS Eight samples which were referred to us for resolving discrepancies in forward and reverse grouping were first phenotype in our laboratory by standard serologic techniques for ABO blood groups. Molecular genotyping for the ABO locus was done by PCR-SSCP. Altered SSCP patterns were analysed by DNA sequencing. Sequencing of intron 6 and exons 1-5 was done in one sample each. RESULTS AND CONCLUSION Nine rare alleles affecting the normal expression of A and B antigens have been identified among Indians. They were two Aw06, one A209, one Ax20, two O05, one O49, one O56 and one O19 alleles. This is the first report demonstrating molecular studies on weaker variants of A and B from India.
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Goebel M, Halm-Heinrich I, Parkner A, Rink G, Heim MU, Bugert P. A Novel ABO Gene Variant Leads to Discrepant Results in Forward/Reverse and Molecular Blood Grouping. ACTA ACUST UNITED AC 2013; 40:454-8. [PMID: 24474897 DOI: 10.1159/000356378] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/26/2013] [Accepted: 05/13/2013] [Indexed: 11/19/2022]
Abstract
BACKGROUND Discrepant results in antigen and reverse ABO blood typing are often caused by a variant ABO gene. Molecular analysis can help to characterize such variants. Here, we describe the identification of a novel ABO gene variant in a patient with aberrant ABO phenotype and discrepant genotyping results. METHODS A patient with discrepant results in automated forward and reverse ABO phenotyping was further investigated by serological (gel and tube technique) and molecular (commercial and inhouse PCR-SSP, DNA sequencing) methods. A PCR-SSP system was established to screen the novel mutation in 1,820 blood donors. RESULTS Standard serological tests confirmed blood group O, however, only anti-B isoagglutinins were present. A monoclonal anti-AB antibody detected very weak agglutination in gel technique. Standard ABO genotyping using PCR-SSP led to discrepant results (O(1)/O(1) or O(1)/A) depending on the test system used. ABO exon re-sequencing identified a novel missense mutation in exon 6 at position 248A>G (Asp83Gly) in the binding region of PCR-SSP primers for the detection of 261G alleles. Blood donors with regular ABO blood groups were all negative for the 248G allele designated Aw34. CONCLUSION The novel ABO gene variant Aw34 is associated with very weak A antigen expression and absent anti-A isoagglutinins. The mutation is located in exon 6 close to the O(1)-specific 261G deletion in the binding region of PCR-SSP primers. Presumably, depending on the primer concentration used in commercial ABO genotyping kits, the mutation could lead to a false-negative reaction.
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Affiliation(s)
- Meike Goebel
- Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, Heidelberg University; German Red Cross Blood Service Baden-Württemberg - Hessen, Mannheim, Magdeburg, Germany
| | - Ines Halm-Heinrich
- Institute of Transfusion Medicine and Immunohematology, Otto-von-Guericke University Hospital, Magdeburg, Germany
| | - Andreas Parkner
- Institute of Transfusion Medicine and Immunohematology, Otto-von-Guericke University Hospital, Magdeburg, Germany
| | - Gabriele Rink
- Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, Heidelberg University; German Red Cross Blood Service Baden-Württemberg - Hessen, Mannheim, Magdeburg, Germany
| | - Marcell U Heim
- Institute of Transfusion Medicine and Immunohematology, Otto-von-Guericke University Hospital, Magdeburg, Germany
| | - Peter Bugert
- Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, Heidelberg University; German Red Cross Blood Service Baden-Württemberg - Hessen, Mannheim, Magdeburg, Germany
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