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Article in Chinese | WPRIM | ID: wpr-880168


OBJECTIVE@#To investigate the indentification method of samples mistyped as O phenotype and to explore the precision transfusion strategy.@*METHODS@#The blood samples from donors and patients admitted in our center from 2018 to 2019 was collected. The samples with O phenotype suspected subtypes were further determined by tube test, adsorption-elution test, etc. Molecular testing was used to sequence the related blood type genes of the subjects.@*RESULTS@#Among 14 subjects misjudged as O, 11 different genotypes were identified, in which 3 blood donors were Ael02/O02, Bel03/O02, and one para-Bombay with B101/O02 (FUT1: h3h3; FUT2: Se@*CONCLUSION@#The phenotypes of Ael, Bel, Aw and para-Bombay subtypes are easily misjudged as type O. Molecular technology is helpful to identify the genotype of subtypes, and the corresponding transfusion strategies could be reasonably performed.

ABO Blood-Group System , Alleles , Blood Transfusion , Fucosyltransferases/genetics , Genotype , Humans , Phenotype
Article in Chinese | WPRIM | ID: wpr-880062


OBJECTIVE@#To investigate the irregular antibody positive rate and antibody specificity in children with thalassemia received long-term blood transfusion in Hainan area and analyze the causes of antibody screening positive.@*METHODS@#Micro-column gel method was used to screen the irregular antibody in 49 children who received transfusion treatment in our hospital, and the antibody specificity of the positive samples was evaluated.@*RESULTS@#Fourteen of 49 cases showed positive for screening. Among them, 11 cases showed Rh blood group antibody after detecting antibody specificity, 1 case showed the coexistence of irregular antibody and autoantibody. One case for anti-JK@*CONCLUSION@#Most of the antibodies produced after long-term blood transfusion in the children with thalassemia belong to Rh blood group antibodies; the children with mixed thalassemia are more likely to produce antibodies; the antibody screening positive rate of Li nationality is higher than that of Han nationality, which may be caused by the genetic difference of blood type between Li nationality and Han nationality.

ABO Blood-Group System , Blood Grouping and Crossmatching , Blood Transfusion , Child , Female , Humans , Infant , Male , Rh-Hr Blood-Group System , beta-Thalassemia
Article in Chinese | WPRIM | ID: wpr-879613


OBJECTIVE@#To study the serological, molecular and genetic characteristics of an individual with para-Bombay blood group.@*METHODS@#Serological method was used to detect the presence of A, B, H antigens in red blood cells and saliva, and Sanger sequencing was used to analyze the FUT1 gene of the proband and her family members. Genetic mechanism of the blood group was analyzed by pedigree analysis.@*RESULTS@#Forward and reverse typing of the ABO blood group were inconsistent for the proband. A, B and H antigens were not found on erythrocytes, while B and H antigens were found in saliva, in addition with unexpected antibodies. The proband was found to have a genotype of ABO*B.01/ABO*O.01.04 caused by homozygous variant of c.948C>A (p.Tyr316Ter) of the FUT1 gene.@*CONCLUSION@#A novel para-Bombay blood group was identified, which was due to the missense variant of c.948C>A in the coding region of the FUT1 gene, which has probably resulted in inability to synthesis active H antigen transferase.

ABO Blood-Group System/genetics , Alleles , Female , Fucosyltransferases/genetics , Genotype , Homozygote , Humans , Phenotype
Article in Chinese | WPRIM | ID: wpr-879612


OBJECTIVE@#To delineate the serological and molecular profiles of a patient with A(w)37B subtype.@*METHODS@#The ABO bloodtypes of the proband, his wife and daughter were determined with a standard serological method. Their ABO genotypes were determined by sequence-specific primer polymerase chain reaction (PCR-SSP). All exons of the ABO gene were directly sequenced. Exons 6 and 7 of the ABO gene were further analyzed by cloning and sequencing.@*RESULTS@#The red blood cells of the proband showed a weak B phenotype. His serum sample contained weak reactive anti-A antibody, which was defined as A(w)B blood group based on the serological characteristics. The A and B alleles were detected by blood group genotyping. Gene cloning and sequencing have identified a characteristic c.940A>G variant (ABO*AW.37) in exon 7 of the ABO gene, which resulted in substitution of Lysine by Glutamate at position 314. The proband's daughter has inherited the ABO*AW.37 allele.@*CONCLUSION@#The c.940A>G variant in exon 7 of the ABO gene probably underlay the decreased activity of GTA transferase and resulted in the Aw37 phenotype.

ABO Blood-Group System/genetics , Alleles , Genotype , Humans , Pedigree , Phenotype
Article in Chinese | WPRIM | ID: wpr-879571


OBJECTIVE@#To explore the molecular basis for an individual with Bw subtype.@*METHODS@#Routine serological reactions were used to determine the surface antigens of erythrocytes and antibodies in serum. PCR-sequence-based typing (PCR-SBT) was used to analyze the coding regions of the ABO gene and erythroid-specific regulatory element in its intron 1. Amplicons for exons 5 to 7 containing the variant site were subjected to TA cloning for the isolation of the haploid and verification of the sequence. The 3D structure of mutant protein was predicted with Pymol software. Changes of amino acid residues and structural stability were also analyzed.@*RESULTS@#Serological assay showed that the individual had weakened B antigen and anti-B antibody in his serum. His genotype was determined as ABO*B.01/ABO*O.01.01. Sequencing of the entire coding region of the ABO gene identified an additional heterozygous c.734C/T variant. No variant was found in the erythroid-specific regulatory element of intron 1. Haploid cloning and isolation has obtained an ABO*O.01.01 allele and a ABO*B.01 allele containing a c.734T variant, which has led to substitution of Thr by Ile at position 245 in the functional center of glycosyltransferase. Based on the 3D structure of the protein, the residues binding with the mutation were unchanged, but the bonding distance between the hydrogens was changed with the amino acid substitution. Meanwhile, the connections with water molecules were increased.@*CONCLUSION@#The c.734C>T variant of the GTB gene can lead to an amino acid substitution in the functional center of the enzyme, which in turn may affect the stability of glycosyltransferase B protein and reduceits enzymatic activity.

ABO Blood-Group System/genetics , Alleles , Exons/genetics , Genotype , Glycosyltransferases/genetics , Humans , Male , Phenotype
Article in Chinese | WPRIM | ID: wpr-879550


OBJECTIVE@#To explore the genetic basis for a Chinese pedigree with a novel ABO subtype.@*METHODS@#The proband and his family members were subjected to serological analysis, and their genotypes were determined by fluorescence PCR and direct sequencing of the coding regions of the ABO gene. Exons 6 to 7 of the ABO gene were also subjected to clone sequencing for haplotype analysis.@*RESULTS@#The proband was determined as an AxB subtype. By fluorescence PCR, he was typed as A/B. Clone sequencing has revealed a insertional mutation c.797_798 insT in exon 7 of the ABO gene, which yielded a novel allele. Pedigree analysis confirmed that the novel ABO*A1.02 allele carried by the proband and his sister was inherited from their father. The c.797_798insT mutation has been submitted to GenBank with an accession number of MK125137.@*CONCLUSION@#The c.797_798insT mutation of exon 7 of the ABO gene probably has led to weakened expression of A antigen.

ABO Blood-Group System/genetics , Alleles , China , Genotype , Humans , Male , Mutation , N-Acetylgalactosaminyltransferases/genetics , Pedigree
Article in Chinese | WPRIM | ID: wpr-879515


OBJECTIVE@#To investigate the serological and molecular characteristics of a pedigree carrying an allele for ABO*BW.11 blood subgroup.@*METHODS@#The ABO blood type of 9 pedigree members were determined by serological methods. Exons 6 and 7 of the ABO gene were amplified by PCR and directly sequenced. The patient and her father were also subjected to clone sequencing analysis.@*RESULTS@#Serological tests demonstrated that the proband and her younger brother had an ABw subtype, whilst her father and two daughters had Bw subtype. Clone sequencing found that the exon 7 of the ABO gene of the proband had a T>C substitution at position 695, which was identified as a BW.11 allele compared with the reference sequence B.01. This BW.11 allele was also identified in the proband's father, brother and two daughters. Due to allelic competition, the A/BW.11 and BW.11/O alleles demonstrated significantly different phenotypes.@*CONCLUSION@#The c.695T>C substitution of the ABO gene may lead to allelic competition in the Bw11 subtype. Combined molecular and serological methods is helpful for precise blood grouping.

ABO Blood-Group System/genetics , Alleles , Female , Genotype , Humans , Male , Pedigree , Phenotype
Article in Chinese | WPRIM | ID: wpr-879514


OBJECTIVE@#To explore the molecular basis for an individual suspected as AwB subtype through DNA sequencing.@*METHODS@#ABO serology was carried out with the standard tube method. To identify the ABO gene haplotype, the amplicons of exon 7 were cloned and sequenced.@*RESULTS@#Serological results showed that the forward typing was AwB and the reverse typing was B. Sequencing analysis revealed that the sample has contained an O01 allele in addition with c.297A>G, c.657C>T, c.796C>A, c.803G>C, c.930G>A variants as compared with the A101 allele.@*CONCLUSION@#Through sequencing analysis, the sample with an AwB subtype by serological testing was identified as a novel B(A) phenotype, which was unreported previously.

ABO Blood-Group System/genetics , Alleles , Base Sequence , Exons/genetics , Humans , Mutation, Missense , Phenotype
Article in Chinese | WPRIM | ID: wpr-879513


OBJECTIVE@#To analyze the molecular characteristics of a recombinant allele of the ABO blood group.@*METHODS@#The ABO phenotype was determined with the tube method. The coding regions of the ABO and FUT1 genes were analyzed by PCR-sequence based typing. The ABO alleles of the proband were determined by allele-specific primer sequencing. The full sequences of the ABO gene of the proband and her mother were determined through next generation sequencing.@*RESULTS@#The red blood cells of the proband did not agglutinate with anti-H, and the sequence of the FUT1 gene was homozygous for c.551_552delAG.The proband was thereby assigned as para-Bombay. Bi-directional sequencing also found that she was heterozygous for c.261G/del,467C>T,c.526C>G,c.657C>T,c.703G>A,c.796C>A,c.803G>C and c.930G>A of the coding regions of the ABO gene. Allele-specific primer sequencing also found her to carry a ABO*A1.02 allele and a recombinant allele from ABO*O.01.01 and ABO*B.01. The recombination site was located between nucleotide c.375-269 and c.526, and the allele was maternally derived.@*CONCLUSION@#An recombinant allele of the ABO gene has been identified, which has originated from recombination of ABO*O.01.01 with the ABO*B.01 allele.

ABO Blood-Group System/genetics , Alleles , Blood Grouping and Crossmatching , Female , Fucosyltransferases/genetics , Genotype , Humans , Phenotype , Recombination, Genetic
Rev. bras. anal. clin ; 52(4): 366-370, 20201230. tab
Article in Portuguese | LILACS | ID: biblio-1247717


Objetivo: O objetivo deste trabalho foi realizar um estudo das frequências dos principais antígenos e fenótipos dos sistemas de grupo sanguíneo: ABO, Rh, Kell. Métodos: A partir dos dados da fenotipagem estendida disponíveis no Sistema de Banco de Sangue (SBS web) de doadores de sangue da Fundação Hemopa, foram avaliadas as frequências absolutas e relativas. Resultados: Dentre os 1.474 doadores analisados houve predominância do tipo O (62,6%) e quanto ao Rh: D (85,5%). O antígeno mais frequente do sistema Rh foi: e (94,9%), e o fenótipo mais frequente: DCcee (27,5%). O antígeno mais frequente do sistema Kell foi: Kpb (100%), e o fenótipo: k+ K- (95,7%), Kp (a- b+) (99,4%). Conclusão: A identificação das frequências desses antígenos em diferentes populações pode auxiliar na rotina hemoterápica, facilitando a busca por hemocomponentes compatíveis, melhorando a segurança transfusional imunológica.

Objective: To study the frequencies of the major antigens of bloodgroup systems:ABO, Rh, Kell. Methods: From data of extendedphenotyping available in the Blood Bank System (SBS web) in blooddonors of the Hemopa Foundation, were evaluated absolute and relativefrequencies. Results: Among the 1.474 donors analyzed there was apredominance of type O (62.6%) and RhD (85.5%). The most frequentantigen from system Rh was: e (94,9%), and the most commonphenotype: DCcee (27,5%). The most frequent antigen from systemKell was: Kpb (100%), and the most common phenotypes: k + K-(95.7%), Kp (a- b +) (99.4%). Conclusion: Identifying the frequenciesof these antigens in different populations may help in the routine bloodtherapy, facilitating the search for compatible blood components,improving the immunological transfusion safety.

Blood Banks , Blood Group Antigens , Blood Transfusion , ABO Blood-Group System , Biological Variation, Population , Kell Blood-Group System
Cienc. tecnol. salud ; 7(3): 325-332, 26 de noviembre 2020. ^c27 cmilus
Article in Spanish | LILACS, LIGCSA, DIGIUSAC | ID: biblio-1130006


La pandemia de COVID-19, causada por el virus SARS-CoV-2, ha infectado ya a más de 25 millones de personas, ocasionando más de 850,000 muertos y causando serios problemas en hospitales y sistemas de salud en todo el mundo. Una de las mayores dificultades que presenta la infección por SARS-CoV-2 es su gran variación en presentación clínica, que puede ir desde casos asintomáticos hasta síndromes de distrés respiratorio agudo, fallo múltiple de órganos y muerte. De aquí la importancia del estudio de factores demográficos, clínicos y genéticos que permitan la identificación de personas con mayor riesgo de adquirir la infección y sufrir manifestaciones graves de la enfermedad. Un número creciente de reportes en la literatura han sugerido que el grupo sanguíneo ABO está relacionado con el riesgo a COVID-19, coincidiendo en que personas con sangre del grupo A muestran el mayor riesgo, mientras que personas con sangre del grupo O el menor. Los objetivos de esta revisión son presentar un resumen de la evidencia existente en la literatura científica reciente y discutir estas observaciones en el contexto del conocimiento sobre la asociación de los grupos sanguíneos a varias infecciones y otras enfermedades, así como de los mecanismos potenciales involucrados. Finalmente, las implicaciones de la relación entre el grupo sanguíneo y susceptibilidad a COVID-19 son también discutidas con relación a la población guatemalteca.

The COVID-19 pandemic, caused by the SARS-CoV-2 virus, has already infected more than 25 million people, resulting in more than 850,000 deaths and causing serious problems in hospitals and health systems worldwide. One of the biggest problems posed by the SARS-CoV-2 infection is its great variation in clinical presentation, which can range from asymptomatic cases to syndromes of acute respiratory distress, multiple organ failure, and death. Hence the importance of studying demographic, clinical and genetic factors that allow the identification of people at increased risk of suffering serious manifestations. A growing number of reports in the literature have suggested that the ABO blood group is related to the risk of COVID-19, demonstrating that people with type A blood have the highest risk, while people with type O blood the lowest. The objective of this review is to present a summary of the existing evidence in the recent scientific literature and to discuss these observations in the context of the knowledge of the association of blood groups to various infections and other diseases, as well as the potential mechanisms involved. Finally, the implications of the relationship between the blood groups and COVID-19 susceptibility are also discussed in relationship to the Guatemalan population.

Humans , ABO Blood-Group System/genetics , SARS Virus , Disease Susceptibility/complications , Risk , Coronavirus Infections , Guatemala
Oncol. (Guayaquil) ; 30(2): 123-132, 31 de agosto del 2020.
Article in Spanish | LILACS | ID: biblio-1141469


Introducción:Existen estudios que asocian a los grupos sanguíneos con el desarrollo de cáncer gástrico, estableciendo una relación entre los individuos con grupo sanguíneo A y la predisposición a esta neoplasia, sin embargo estos reportes podrían estar sesgados por la prevalencia poblacional del tipo sanguíneo de la región. El objetivo de este estudio es establecer la relación predicha en una zona de alta prevalencia de tipo sanguíneo O. Métodos: Este estudio observacional, analítico fue llevado a cabo en pacientes que se realizaron biopsia de estómago vía endoscópica atendidos en el Instituto de Cáncer SOLCA Cuenca en el período 2013 ­2018; el muestreo es no probabilístico de todos los casos posibles. Para el análisis se conforma el grupo 1 (G1) con pacientes con Biopsia Positiva para Cáncer Gástrico, el grupo 2 con pacientes con Biopsia negativa para Cáncer Gástrico. Se realiza análisis de asociación con Razón de Prevalencia (RP). Resultados: Fueron 433 casos de cáncer gástrico en G1y 2606 casos negativos para Cáncer Gástrico en G2. La prevalencia del tipo de sangre "O" en G1fue 328/433 casos (75.75%) Vs. 1946/2606 casos (74.67%); la prevalencia del tipo de sangre "A" en G1 fue 71/433 casos (16.4%) Vs 485/2606 casos (18.61%) en G2; RP=0.875 (IC95% 0.69 -1.11), P=0.27. Conclusiones: No se demostró asociación entre el tipo de sangre y la presencia de Cáncer Gástrico en el presente reporte.

Introduction:There are studies that associate blood groups with the development of gastric cancer, establishing a relationship between individuals with blood group A and a predisposition to this neoplasia, however these reports could be biased by the population prevalence of the blood type of the region. The objective of this study is to establish the predicted relationship in an area with a high prevalence of blood type O. Methods: This observational, analytical study was carried out in patients who underwent endoscopic stomach biopsy treated at the SOLCA Cuenca Cancer Institute in the period 2013 -2018; the sampling is non-probability of all possible cases. For the analysis, group 1 (G1) is made up of patients with a Positive Biopsy for Gastric Cancer, group 2 with patients with a negative Biopsy for Gastric Cancer. Association analysis with Prevalence Ratio (PR) is performed. Results: There were 433 cases of gastric cancer in G1 and 2606 negative cases for Gastric Cancer in G2. The prevalence of blood type "O" in G1 was 328/433 cases (75.75%) Vs. 1946/2606 cases (74.67%); the prevalence of blood type "A" in G1 was 71/433 cases (16.4%)Vs 485/2606 cases (18.61%) in G2; PR = 0.875 (95% CI 0.69 -1.11), P = 0.27. Conclusions: No association between blood type and the presence of Gastric Cancer was demonstrated in this repor

Humans , Stomach Neoplasms , ABO Blood-Group System , Endoscopy, Gastrointestinal , Risk Factors , Dyspepsia
Rev. bras. anal. clin ; 52(2): 143-148, 20200630. ilus
Article in Portuguese | LILACS | ID: biblio-1147029


A atribuição do sistema sanguíneo ABO às infecções não é recente e não é exclusiva de infecções virais. A relação entre a COVID-19 e o grupo sanguíneo ABO de pacientes infectados tem sido investigada. O objetivo desta revisão foi avaliar se a associação do sistema sanguíneo ABO com SARS-CoV-2 envolve a isomeria ABO tecidual e subgrupos sanguíneos. Realizou-se uma revisão sistemática com busca de artigos e publicações até 28 de julho de 2020 na base PubMed. Foram obtidos 311 manuscritos dos quais 15 atenderam os critérios de inclusão e foram incluídos no estudo. Quarenta por cento dos estudos discutiram a possibilidade dos antígenos teciduais ABO influenciar na transmissão ou gravidade da COVID-19. Nenhum manuscrito mencionou que a isomeria antigênica ABO tecidual poderia predispor indivíduos às infecções por SARS-CoV-2 ou agravamento da COVID-19. Um manuscrito discutiu a possibilidade de o impedimento estérico afetar a saturação do receptor de diferentes isótipos de anticorpos anti-A1IgG em pacientes que desenvolveram COVID-19. Se rejeitássemos cartas e/ou comentários, análises profundas sobre o aspecto do sistema sanguíneo ABO e infecções por SARS-CoV-2 teriam sido excluídos e prejudicariam a discussão científica e as conclusões da revisão.

The assignment of the ABO blood system to infection is not new and is not exclusive to viral infections. The relationship between COVID-19 and the ABO blood group of infected patients has been investigated. The purpose of this review was to assess whether the association between ABO blood system and SARS-CoV-2 involves tissue ABO isomerism and blood subgroups. A systematic review was carried out with search until July 28, 2020 in PubMed database. Three hundred and eleven manuscripts were obtained, of which 15 met the inclusion criteria and were included in the study. Forty percent of the studies discussed the possibility of ABO tissue antigens influence the transmission or severity of COVID-19. No manuscript mentioned that ABO tissue antigenic isomerism could predispose individuals to SARSCoV-2 infections or severe COVID-19. A manuscript discussed the possibility of steric impediment affect receptorsaturation of the different antibodies A1IgG isotypes in COVID-19 patients. If the letters, correspondences or comments were rejected, deep analyzes of ABO blood system and SARS-CoV-2 infections relationship would have been excluded, and would undermine the scientific discussion and conclusions of the review.

ABO Blood-Group System , Coronavirus Infections , SARS Virus , Betacoronavirus
Arch. argent. pediatr ; 118(2): e135-e142, abr. 2020. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1100205


Objetivos. Se ha demostrado, en diversos estudios llevados a cabo en adultos, que los grupos sanguíneos desempeñan un papel importante en muchas enfermedades. El objetivo fue investigar si hay una relación entre las morbilidades y el sistema de grupos sanguíneos ABO en lactantes prematuros.Metodología. En este estudio de cohorte retrospectivo, se incluyó a recién nacidos prematuros que habían nacido con menos de 32 semanas de gestación y con un peso al nacer inferior a 1500 g. Se los agrupó por grupo sanguíneo (0, A, B, AB) y por morbilidades de la prematurez y se los comparó.Resultados. Se analizaron los datos de 1785 recién nacidos prematuros de muy bajo peso al nacer. La comparación entre los grupos sanguíneos A y no A reveló que los lactantes de grupo sanguíneo A tenían una incidencia más alta de conducto arterial persistente (CAP) (48,7 % frente a 39,7 %, p = 0,005) y displasia broncopulmonar (DBP) (27 % frente a 20,8 %, p = 0,04), mientras que la incidencia de la hemorragia intraventricular de grado ≥3 era más baja (5,1 % frente a 10,1 %, p = 0,006).Conclusión. Este estudio es la primera y más grande investigación sobre la relación entre los grupos sanguíneos y las morbilidades en los prematuros. Con estos resultados se demuestra que el grupo sanguíneo A podría ser un factor de riesgo de CAP y DBP

Objectives. Blood groups have been shown to play an important role in a lot of diseases in various studies conducted in adults. The objective was to investigate whether there is a relationship between morbidities and ABO blood groups system in preterm infants.Methodology. This retrospective cohort study included preterm neonates born at < 32 weeks of gestation with a birth weight < 1500 g. Neonates were grouped by blood type (O, A, B, AB) and morbidities of prematurity were compared among these groups. Results. Data pertaining to 1785 very low birth weight preterm neonates were analyzed. Comparison of the A and non-A blood groups revealed that infants with blood group A had significantly higher incidence of patent ductus arteriosus (PDA) (48.7 % vs. 39.7 %, p = 0.005) and bronchopulmonary dysplasia (BPD) (27 % vs. 20.8 %, p = 0.04), while the incidence of grade ≥ 3 intraventricular hemorrhage was lower (5.1 % vs. 10.1 %, p = 0.006).Conclusion. This study represents the first and biggest series examination of the relationship between blood groups and preterm morbidities. Our results show that blood group A may be a risk factor for PDA and BPD.

Humans , Male , Female , Infant, Newborn , ABO Blood-Group System , Infant, Premature , Blood Group Antigens , Bronchopulmonary Dysplasia , Retrospective Studies , Risk Factors , Morbidity , Infant, Very Low Birth Weight , Ductus Arteriosus , Cerebral Intraventricular Hemorrhage
Article in Chinese | WPRIM | ID: wpr-781290


OBJECTIVE@#To explore the molecular basis for an individual with ABO subtype.@*METHODS@#The ABO phenotype of the proband was determined by convention serological testing. Exons 6 and 7 of the ABO gene were subjected to PCR amplification and bi-directional Sanger sequencing. Haplotypes for exons 6 and 7 of the proband was determined using an ABO haplotype-specific amplification and sequencing technique.@*RESULTS@#Red blood cells of the proband showed a 4+ agglutination strength with anti-A or anti-H, no agglutination reaction with anti-A1, and a 3+ agglutination strength with anti-B. His serum had no reaction with standard A cells, O cells or self cells, but was weakly reactive with B cells at 4℃. The proband was assigned as an ABO subtype based on his serological features. Bi-directional sequencing of the ABO gene revealed heterozygosity of 261 G/del, 297AG, 526CG, 657CT, 703GA, 803GC and 930GA, and homozygosity of 796CC in the proband. Haplotype-specific amplification and sequencing showed that one of his alleles was ABO*O.01.01, and another contained a c.796A>C variation compared with the ABO*B.01 allele, which led to replacement of methionine by leucine at position 266. Searching the ABO allele database of International Society of Blood Transfusion suggested the variation to be a novel one.@*CONCLUSION@#The c.796A>C variation in the ABO*B.01 allele probably underlies the CisAB subtype. Accurate identification of the ABO subtype requires combined use of serological method and genetic testing.

ABO Blood-Group System , Genetics , Alleles , Exons , Genetic Variation , Genotype , Humans , Male , Phenotype , Sequence Analysis, DNA
Rev. cienc. cuidad ; 17(3): 75-85, 2020.
Article in Spanish | LILACS, BDENF, COLNAL | ID: biblio-1122489


Objetivo: Describir las características, frecuencia y distribución de los donantes voluntarios de sangre en las Universidades de Neiva Huila, durante el período 2013-2017. Materiales y métodos: Estudio observacional descriptivo de corte transversal para los periodos de enero 2013 a diciembre 2017, basado en fuentes secundarias suministradas por la Red Nacional de Bancos de Sangre a través del Banco de Sangre de Neiva. Se realizó un muestreo de donantes por conveniencia que cumplieran con criterios de inclusión y exclusión definidos para el estudio. Las variables que se analizaron fueron grupos de edad, género, grupo sanguíneo ABO y factor Rh. Resultados: Durante el periodo de estudio se realizaron 6.547 donaciones de sangre voluntarias, de las cuales el 85,5% (I.C 95%: 84,6-86,3) fueron ocasionales y el 14,5% (I.C 95%: 13,6-15,6) habituales; el género masculino generó la mayor parte de las donaciones voluntarias habituales en el 68% (I.C 95%: 64,9-70,9), se identificó que el grupo poblacional en edades de 19-29 años, para ambos géneros, aporto el 87,5% (I.C 95%: 85,2-89,4); el grupo sanguíneo que prevaleció en los donantes voluntarios fue el grupo O en el 61,6% (I.C 95%: 57,2-63,4) y el factor Rh positivo en el 98,5% de la población donante. Conclusión: Se presentó una disminución cercana al 90% en los donantes habituales posterior a tercera década de la vida, los hombres tuvieron una mayor participación en las jornadas de promoción y captación de sangre durante el periodo de estudio, dado a que los hombres pueden realizar un mayor número de donaciones en el año en comparación con las mujeres.

Objetivo: Descrever as características, frequência e distribuição de doadores voluntários de sangue nas Universidades de Neiva Huila, durante o período de 2013 a 2017. Materiais e Métodos: Estudo descritivo transversal observacional entre os períodos de janeiro de 2013 a dezembro de 2017 com base em fontes secundárias fornecidas pela Rede Nacional de Bancos de Sangue através do Banco de Sangue do Neiva; Foi realizada uma amostragem de doadores por conveniência, atendendo aos critérios de inclusão e exclusão definidos para o estudo. As variáveis analisadas foram: faixa etária, gênero, grupo sanguíneo ABO e fator Rh. Resultados: Durante o período de estudo, foram feitas 6.547 doações voluntárias de sangue, das quais 85,5% (95%: 84,6-86,3) foram feitas com base nos seguintes 14,5% (I.C 95%: 13,6-15,6) por regular. O gênero masculino gerou a maior parte das doações voluntárias habituais em 68% (I.C 95%: 64,9-70,9), o grupo populacional de 19 a 29 anos foi identificado para ambos os sexos, fornecendo 87,5% (I.C 95%: 85,2-89,4); o grupo sanguíneo que mais prevaleceu nos doadores voluntários foi o grupo O em 61,6% (I.C 95%: 57,2-63,4) e o fator Rh positivo em 98,5% da população doadora. Conclusão: Houve uma redução de quase 90% nos doadores regulares após a terceira década de vida, Os homens tiveram maior participação nos dias de promoção e coleta de sangue durante o período de estudo, uma vez que os homens podem fazer um maior número de doações no ano em comparação com as mulheres.

Objective: To describe the characteristics of voluntary blood donors in the Universities of Neiva Huila, during the period 2013-2017. Materials and methods: Cross-sectional descriptive observational study, for the periods from January 2013 to December 2017, based on secondary sources provided by the National Network of Blood Banks. A convenience sampling was performed of the donors registered in the database, who met the inclusion and exclusion criteria defined for the study. The variables analyzed were age groups, gender, ABO blood group and Rh factor. Results: During the study period, 6,547 voluntary blood donations were made, of which 85.5% (95% CI: 84.6-86.3) were occasional and 14.5% (95% CI: 13. 6-15.6) usual. The male gender generated most of the usual voluntary donations in 68% (95% CI: 64.9-70.9), it was identified that the population group aged 19-29 years for both genders contributed 87, 5% (95% CI: 85.2-89.4); the most prevalent blood group in volunteer donors was the blood group O Rh factor Positive in 61.6% (95% CI: 57.2-63.4) and the Rh factor positive in 98.5% of the patients. donor population. Conclusion: There was a decrease close to 90% in habitual donors after the third decade of life. Men had a greater participation in the days of promotion and collection of blood during the study period, given that men can make a greater number of donations in the year compared to women.

Blood Donors , Volunteers , Blood , Blood Banks , ABO Blood-Group System
Article in Chinese | WPRIM | ID: wpr-879509


OBJECTIVE@#To delineate the blood group for a pair of twins with inconclusive ABO blood typing result.@*METHODS@#Serological test for blood group was carried out by using ABO and Rh Blood Grouping Cards (Microcolumn Gel Immunoassay). Sequence specific primer-PCR (PCR-SSP), direct sequencing and TA clone sequencing were used to analyze the ABO gene. Genetic status was analyzed by using 16 short tandem repeat (STR) markers.@*RESULTS@#Red blood cells of the twins displayed 2+ mixed agglutination phenomenon with anti-A, anti-A1 and anti-E. PCR-SSP and DNA sequencing of exons 6 to 7 revealed that they have an ABO*O.01.01/ABO*O.01.02 genotype. DNA sequencing of microsatellite enhancer region revealed presence of A gene. STR analysis revealed more than two haplotypes for 9 loci between the twins. After clustered by anti-A, the red blood cells were divided into two groups: A, CcDEe and O, CcDee, respectively.@*CONCLUSION@#Serological and molecular techniques have characterized the twins as blood group chimeras.

ABO Blood-Group System/genetics , Alleles , Chimera/genetics , Genotype , Humans , Twins/genetics
Article in Chinese | WPRIM | ID: wpr-826530


OBJECTIVE@#To explore the molecular basis for an A subtype of the ABO blood group.@*METHODS@#The forward and reverse typing of the ABO blood group were identified by gel card and test tube methods. The ABO gene of the patient was detected by PCR-sequence specific primer (PCR-SSP). Exons 1 to 7 of the ABO gene was amplified by PCR and sequenced. The ABO gene was also subjected to subclone sequencing for haplotype analysis.@*RESULTS@#The patient's red cells showed weak agglutination with anti-A but non-agglutination with anti-B. The patient's serum showed 1+ agglutination with A cells and 4+ agglutination with B cells. Based on above serological characteristics, the patient was defined as Aw subtype of the ABO blood group. Sequencing analysis showed that the patient was heterozygous for c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.297A>G, c.467C>T, c.543G>C, c.646T>A, c.681G>A, c.771C>T, c.829G>A, in addition with a c.261G deletion. Combined with the result of subclone sequencing, the ABO genotype of the patient was determined as ABO*AW.33. new/O.01.02, which harbored c.467C>T and c.543G>C variants compared with ABO*A1.01 and c.543G>C variant compared with ABO*A1.02. The novel allele has been submitted to GenBank with an accession number of MK302122.@*CONCLUSION@#A novel allele of Aw33 subtype has been identified with its GTA transferase gene harboring c.467C>T and c.543G>C variants compared with A1.01.

ABO Blood-Group System , Genetics , Alleles , Exons , Genetics , Genotype , Humans , Phenotype
Rev. cuba. hematol. inmunol. hemoter ; 35(1): e894, ene.-mar. 2019. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1003887


Introducción: Los antígenos específicos de plaquetas, conocidos como antígenos de plaquetas humanas (HPA, del inglés human platelet antigens), se incluyen dentro del espectro de antígenos de histocompatibilidad no-HLA, debido a que los anticuerpos anti-HPA participan en el rechazo del trasplante, además de ser causa del fenómeno de refractariedad plaquetaria. Objetivo: Caracterizar los anticuerpos contra antígenos específicos de plaquetas en pacientes cubanos en espera de trasplante renal. Métodos: Se investigaron muestras de sangre de 901 pacientes mediante la técnica de inmovilización de antígenos plaquetarios con anticuerpos monoclonales. Resultados: En 78 pacientes se detectaron anticuerpos anti-HPA, que en el 87,17 por ciento reconocían los antígenos presentes en el complejo GP-IIb/IIIa. Estos anticuerpos fueron del tipo IgG en el 78,2 por ciento, IgA en el 11,53 por ciento e IgM en el 46,15 por ciento. Conclusiones: En pacientes cubanos en espera de trasplante renal son frecuentes los Ac anti-HPA, en su mayoría del tipo IgG dirigidos contra antígenos presentes en el complejo GP-IIb/IIIa(AU)

Introduction: Platelet-specific antigens, known as human platelet antigens (HPA), are included within the spectrum of non-HLA histocompatibility antigens, because HPA antibodies participate in the rejection of transplantation, besides being a cause of the phenomenon of platelet refractoriness. Objective: To characterize antibodies against platelet-specific antigens in Cuban patients awaiting kidney transplantation. Methods: The technique monoclonal antibodies immobilized platelets antigens was applied to blood samples from 901 patients. Results: HPA antibodies were detected in 78 patients, which in 87.17 percent recognized the antigens present in the GP-IIb / IIIa complex. These antibodies were in 78.2 percent of the IgG class, in 11.53 percent IgA and IgM in 46.15 percent. Conclusions: HPA antibodies, mostly of the IgG class and directed to antigens present in the GP-IIb/IIIa complex, are common in Cuban patients awaiting kidney transplantation(AU)

Humans , Male , Female , ABO Blood-Group System/therapeutic use , Platelet Aggregation Inhibitors , Kidney Transplantation/methods , Antigens, Human Platelet , Graft Rejection/complications , Epidemiology, Descriptive , Cross-Sectional Studies , Cuba