Noninvasive buccal swab antigen sample and molecular testing provides extended antigen typing for patients with hemoglobinopathies

Abstract

Objective: To demonstrate the feasibility of performing a noninvasive, molecular-based red blood cell (RBC) antigen test on infants and very young children with sickle cell disease as part of a statewide newborn screening follow-up program.

Study design: A prospective pilot project was conducted using a noninvasive buccal swab and test kit to perform DNA-based, extended RBC phenotyping in 92 children participating in a newborn hemoglobinopathy screening follow-up program. Reported data include the extended panel of antigens detected by molecular analysis compared with unaffected population estimates.

Results: Molecular-based RBC antigen testing was successful, with extended RBC typing generated for all subjects. Molecular testing detected several rare negative or rare positive phenotypes, demonstrating the utility of obtaining an extended antigen panel.

Conclusion: This study demonstrates the feasibility of performing antigen testing on buccal swab specimens from children with sickle cell disease as part of a newborn screening follow-up program with the aim of allowing specific unit matching to prevent alloimmunization with RBC transfusions. The general applicability of testing may be limited by a lack of uniform insurance coverage for buccal swab testing, however.