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Routine blood donor screening missed a DEL variant, causing anti-D alloimmunization in a recipient. Current RHD genotyping methods are insufficient for identifying all variant alleles, necessitating further investigation.

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Area of Science:

  • Transfusion Medicine
  • Immunology
  • Genetics

Background:

  • Exposure to RhD variants can cause anti-D alloimmunization in RhD-negative individuals.
  • Accurate RhD typing is crucial to prevent alloantibody formation.

Observation:

  • A DEL variant in a blood donor was missed by routine screening methods.
  • A recipient developed anti-D alloantibody after transfusion with blood from this DEL-positive donor.

Findings:

  • Standard serologic methods and initial RHD genotyping failed to identify the DEL variant.
  • Advanced RHD genotyping and DNA sequencing were required to characterize the variant.
  • The DEL variant, missed by routine screening, led to clinically significant anti-D alloimmunization.

Implications:

  • Current blood donor screening methods may not detect all RhD variants, including DEL.
  • Further investigation into intronic and regulatory regions of the RHD gene is needed for comprehensive genotyping.
  • Improved RHD typing strategies are essential to prevent transfusion-related alloimmunization.