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Related Experiment Videos

A 'new' allele, Kpc, at the Kell complex locus.

H Yamaguchi, Y Okubo, T Seno

    Vox Sanguinis
    |January 1, 1979
    PubMed
    Summary
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    Four Japanese sisters with rare Kp(a-b-) blood types were identified. The findings suggest a new Kp(c) allele may explain their Kell antigen profiles.

    Area of Science:

    • Immunogenetics
    • Hematology
    • Population Genetics

    Background:

    • The Kell blood group system is a complex and highly polymorphic system of red blood cell antigens.
    • Rare Kell phenotypes, such as Kp(a-b-), are of significant clinical and genetic interest.
    • Consanguineous matings increase the likelihood of expressing rare homozygous or compound heterozygous genotypes.

    Observation:

    • Four sisters from a consanguineous Japanese family presented with the rare Kp(a-b-) phenotype.
    • Standard Kell antigen typing revealed the absence of Kpa and Kpb antigens.
    • Other Kell antigens were expressed normally, suggesting a specific genetic background.

    Findings:

    • The Kp(a-b-) phenotype in this family is most likely due to a novel allele at the KEL locus.

    Related Experiment Videos

  • This new allele, tentatively named Kp(c), appears to be responsible for the absence of both Kpa and Kpb.
  • The genetic basis points towards a compound heterozygous state for Kp(c) and potentially another rare allele, or a homozygous state for Kp(c).

    • Implications:

    • Identification of the Kp(c) allele expands the known diversity within the Kell blood group system.
    • Understanding this rare phenotype is crucial for transfusion medicine, particularly for patients requiring antigen-negative blood.
    • Further genetic studies are warranted to fully characterize the Kp(c) allele and its inheritance pattern.