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RHCE genotyping using next generation sequencing: Allele specific reference sequences.
Transfusion
December 2024
School of Biomedical Sciences, Faculty of Health, University of Plymouth, Plymouth, UK.
Background: The Rh blood group system (ISBT004) is encoded by two homologous genes, RHD and RHCE. Polymorphism in these two genes gives rise to 56 antigens, which are highly immunogenic and clinically significant. This study extended previous work on the establishment of RHD allele specific reference sequences using next generation sequencing (NGS) with the Ion Personal Genome Machine (Ion PGM) to sequence the complete RHCE gene.
View Article and Find Full Text PDFRed blood cell extended antigen typing in Omani patients with sickle cell disease to enhance daily transfusion practice.
Immunohematology
September 2024
1Hemocentro Unicamp, Campinas, São Paulo, Brazil.
Article Synopsis
- Many Omani patients with sickle cell disease mainly receive red blood cell transfusions that only account for ABO and D blood types, making them at high risk for alloimmunization.
- The study aims to enhance transfusion compatibility by using molecular techniques to predict the extended antigen profiles across multiple blood group systems for Omani patients.
- Initial findings indicate that the most common blood type among the enrolled 38 patients is group O, highlighting significant differences in RBC phenotypes compared to SCD patients in other regions.
[Molecular study of a case with variant of RHCE*ce allele in haplotype dce resulting in weakened e antigen].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
September 2024
Department of Blood Transfusion, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the Rh genotype for a female with RhD(-) blood type and its molecular basis.
Methods: A 26-year-old female who had attended the outpatient clinic of the First Affiliated Hospital of Zhengzhou University in August 2019 was selected as the study subject. Peripheral blood samples were collected from the proband and her parents for Rh phenotyping with gel card method.
Investigation of Delayed Transfusion Reactions in Sickle Cell Disease Patients Polytransfused in the Brazilian Amazon.
Hematol Rep
August 2024
Programa de Pós-Graduação em Ciências Aplicadas à Hematologia da Universidade do Estado do Amazonas (PPGH-UEA), Manaus 69050-001, AM, Brazil.
Background: Sickle cell disease (SCD) affects approximately 100,000 people in the United States and millions worldwide, with the highest prevalence of 70% of SCD being found in individuals of African ethnicity. Delayed hemolytic, alloimmunization, and anamnestic transfusion reactions in multiple transfusion patients need to be investigated and managed to avoid a worsening of the patient's clinical status.
Objective: This paper aims to investigate delayed transfusion reactions in SCD patients who were polytransfused in the Brazilian Amazon.
Genotyped RhD+ red cells for D-positive patients with sickle cell disease with conventional RHD and unexpected anti-D.
Blood
November 2024
Immunohematology and Genomics Laboratory, New York Blood Center Enterprise, Long Island City, NY.
Anti-D can occur in D-positive patients who inherit RHD genetic variants encoding partial D antigen expression, but unexpected anti-D is also found in the plasma of patients with sickle cell disease who have conventional RHD gene(s) and are transfused with units from Black donors. These anti-D are likely stimulated by variant Rh expressed on donor cells; however, patients with anti-D, regardless of cause, are transfused for a lifetime with D-negative (Rh-negative) blood. This results in significant increased use of Rh-negative units, especially for those requiring chronic transfusion, which can strain Rh-negative blood inventories.
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