Molecular genotyping versus serological diagnosis for RH blood group typing in sickle cell patients

Expert Rev Clin Immunol. 2024 Nov;20(11):1421-1426. doi: 10.1080/1744666X.2024.2388700. Epub 2024 Aug 8.

Abstract

Objectives: High rate of alloimmunization in sickle cell disease (SCD) patients poses a significant challenge in finding compatible blood unit. Accurate determination of the blood group genotype of them can help reduce the alloimmunization risk. Tetra ARMS PCR is a novel method that has been utilized recently to investigate SNPs in diseases in a fast and reliable way.

Methods: Our study included 104 SCD and sickle thalassemia (Sβ) patients referred to Baghaei-2-Hospital of Ahvaz in 2019 using a nonrandom sampling method. Blood samples were collected for serological and molecular tests. Rh genotyping was performed using Tetra ARMS PCR and compared with the serological results.

Results: Based on the Tetra ARMS PCR method, out of 104 patients, 7 (6.7%) were d/d, 40 (38.5%) were D/d, 57 (54.8%) were D/D, 25 (24%) were C/C, 59 (56.7%) were C/c, 20 (19.3%) were c/c, 4 (3.8%) were E/E, 25 (24%) were E/e, and patients 75 (72.2%) were e/e. There were discrepancies in the serological and molecular results for 11 patients.

Conclusion: Use of Tetra ARMS PCR in combination with serological methods for determining the Rh blood group system in donors and transfusion-dependent patients represents a remarkable transformation in the field of immunohematology.

Keywords: Alloimmunization; PCR; blood transfusion; genotype; phenotype; sickle cell disease.

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell* / blood
  • Anemia, Sickle Cell* / diagnosis
  • Anemia, Sickle Cell* / genetics
  • Anemia, Sickle Cell* / immunology
  • Blood Grouping and Crossmatching / methods
  • Child
  • Child, Preschool
  • Female
  • Genotype*
  • Genotyping Techniques
  • Humans
  • Male
  • Middle Aged
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single Nucleotide
  • Rh-Hr Blood-Group System* / genetics
  • Rh-Hr Blood-Group System* / immunology
  • Serologic Tests
  • Young Adult

Substances

  • Rh-Hr Blood-Group System