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The H blood group system.

Erwin A Scharberg1, Coral Olsen2, Peter Bugert3

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The H blood group system involves a single H antigen. Genetic mutations can lead to the Bombay phenotype (Oh) or para-Bombay (H+w), impacting transfusion safety due to anti-H antibodies.

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Area of Science:

  • Immunogenetics
  • Blood Group Serology
  • Molecular Biology

Background:

  • The H blood group system (ISBT symbol H) is defined by a terminal fucose residue on red blood cells and secretions.
  • This antigen is synthesized by α-1,2-fucosyltransferases encoded by FUT1 and FUT2 genes.
  • Mutations in these genes lead to H-deficient phenotypes, including the Bombay (Oh) and para-Bombay (H+w) phenotypes.

Purpose of the Study:

  • To elucidate the genetic basis and serological consequences of H blood group system variations.
  • To understand the molecular mechanisms underlying the Bombay and para-Bombay phenotypes.
  • To highlight the clinical significance of H antigen deficiency in blood transfusion.

Main Methods:

  • Analysis of FUT1 and FUT2 gene alleles.
  • Serological characterization of red blood cells and secretions.
  • Investigation of anti-H antibody production in H-deficient individuals.

Main Results:

  • Mutant alleles of FUT1 and FUT2 cause H-negative (Bombay, Oh) or weak H (para-Bombay, H+w) phenotypes.
  • FUT2 gene variations determine secretor (Se) or nonsecretor (se) status.
  • Individuals with the H-negative phenotype possess natural anti-H antibodies (primarily IgM).

Conclusions:

  • Genetic variations in FUT1 and FUT2 are responsible for the H blood group system phenotypes.
  • The Bombay phenotype is characterized by the absence of the H antigen and the presence of anti-H antibodies.
  • H-negative individuals are at risk of severe hemolytic transfusion reactions due to anti-H antibodies.