Rapid and Reliable HLA-B*59:01 Genotyping to Prevent Carbonic Anhydrase Inhibitor-Induced Severe Cutaneous Adverse Reactions

Ann Clin Lab Sci. 2024 Jan;54(1):101-105.

Abstract

Objective: Carbonic anhydrase inhibitors (CAIs) are intraocular pressure-reducing medications used in ophthalmology. Human leukocyte antigen-B*59:01 (HLA-B*59:01) is strongly associated with CAI-induced severe cutaneous adverse reactions (SCARs). This study aimed to develop and validate a rapid and economical screening method for HLA-B*59:01 to prevent carbonic anhydrase inhibitor-induced SCARs.

Methods: Duplex allele-specific polymerase chain reaction (PCR) with an internal control was performed for HLA-B*59:01 genotyping. The accuracy of duplex allele-specific PCR for HLA-B*59:01 genotyping was evaluated in 200 blood samples, using sequence-based typing (SBT) as the reference method.

Results: In total, 50 HLA-B*59:01-positive and 150 HLA-B*59:01-negative results obtained using duplex allele-specific PCR were in complete agreement with the SBT results.

Conclusion: Duplex allele-specific PCR is a rapid, reliable, and economical assay for screening the HLA-B*59:01 allele.

Keywords: HLA-B*59:01; allele-specific PCR; carbonic anhydrase inhibitor hypersensitivity; sequence-specific primers; severe cutaneous adverse reactions.

MeSH terms

  • Alleles
  • Carbonic Anhydrase Inhibitors* / adverse effects
  • Genotype
  • HLA-B Antigens* / genetics
  • Humans

Substances

  • Carbonic Anhydrase Inhibitors
  • HLA-B Antigens
  • HLA-B59 antigen