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Blood Types02:20

Blood Types

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Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
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The ABO blood group system is a critical element of transfusion medicine, essential for determining blood compatibility in transfusions and organ transplants. It is based on specific antigens, or agglutinogens, present on the surface of red blood cells (RBCs) and corresponding antibodies, or agglutinins, in the blood plasma.
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Understanding an individual's blood group is a critical component of transfusion medicine. It ensures compatibility in blood transfusions, organ transplants, and even during pregnancy. Determining these blood groups involves the ABO and Rh blood typing systems, utilizing specific antigens and corresponding anti-sera to identify an individual's blood type.
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Blood transfusion is a critical medical procedure that saves lives and treats various medical conditions. It involves transferring blood from a donor to a recipient. This process requires a thorough understanding of the ABO blood group system and its associated antigens and antibodies.
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The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.
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Characterisation of the ABO Blood Group Phenotypes Using Third-Generation Sequencing.

Fredrick M Mobegi1,2, Samuel Bruce1, Naser El-Lagta1

  • 1Department of Clinical Immunology, PathWest Laboratory Medicine WA, Fiona Stanley Hospital Network, Murdoch, WA 6150, Australia.

International Journal of Molecular Sciences
|June 26, 2025
PubMed
Summary

Third-generation sequencing (TGS) offers a validated workflow for accurate ABO blood group phenotyping from DNA. This method provides reliable results for clinical and research applications, enhancing blood group screening capabilities.

Keywords:
ABO blood typesABO genotypingABO phenotypingABO subtypessingle-nucleotide variantsthird-generation sequencing

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Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Specialized immunohematology laboratories use sequencing for rare ABO blood group phenotypes.
  • Current sequencing methods lack validated protocols and bioinformatics tools for routine clinical use.

Purpose of the Study:

  • To develop and validate a third-generation sequencing (TGS) workflow for comprehensive ABO blood group phenotyping.
  • To enable routine clinical application of advanced sequencing techniques for blood group determination.

Main Methods:

  • DNA isolation from buccal swabs or whole blood.
  • Amplification and sequencing of ABO gene exons 2-7 using MinION 10.4.1.
  • Analysis pipeline incorporating single-nucleotide variants and additional polymorphic positions for subtype differentiation.

Main Results:

  • A TGS-based workflow accurately determined ABO blood group phenotypes using five polymorphic positions.
  • As few as 20 sequencing reads were sufficient for reliable ABO genotype and phenotype prediction.
  • High concordance was observed between TGS results and serological/independent molecular typing.

Conclusions:

  • TGS provides a scalable and precise method for routine ABO blood group screening.
  • The developed workflow and bioinformatics tools support clinical and research applications in immunohematology.
  • This study validates TGS for comprehensive ABO blood group characterization.