title: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Indiana Hemophilia and Thrombosis Center, Indianapolis, IN.
authors.forename: Angeli
authors.initials: A
authors.lastname: Rampersad
authors.affiliation: Indiana Hemophilia and Thrombosis Center, Indianapolis, IN.
authors.forename: Kisha
authors.initials: K
authors.lastname: Hampton
authors.affiliation: Indiana Hemophilia and Thrombosis Center, Indianapolis, IN.
authors.forename: Natalie
authors.initials: N
authors.lastname: Duncan
authors.affiliation: Indiana Hemophilia and Thrombosis Center, Indianapolis, IN.
authors.forename: Chris
authors.initials: C
authors.lastname: Roberson
authors.affiliation: Indiana Blood Center Immunohematology Reference Laboratory, Indianapolis, IN.
authors.forename: Jayanna
authors.initials: J
authors.lastname: Slayten
authors.affiliation: Indiana Blood Center Immunohematology Reference Laboratory, Indianapolis, IN.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Davisson
authors.affiliation: Indiana Blood Center Immunohematology Reference Laboratory, Indianapolis, IN.
authors.forename: Jessica
authors.initials: J
authors.lastname: Aronowitz
authors.affiliation: Indiana Hemophilia and Thrombosis Center, Indianapolis, IN.
authors.forename: Amy
authors.initials: A
authors.lastname: Shapiro
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000628:therapy; D001789:Blood Group Antigens / Q000032:analysis*; D001788:Blood Grouping and Crossmatching; D002675:Child, Preschool; D004847:Epithelial Cells / Q000166:cytology; D017707:Erythrocyte Transfusion; D004912:Erythrocytes / Q000276:immunology*; D005260:Female; D006801:Humans; D007196:Indiana; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009061:Mouth Mucosa / Q000166:cytology*; D015997:Neonatal Screening / Q000379:methods*; D010641:Phenotype; D010865:Pilot Projects; D011446:Prospective Studies
chemical_list: D001789:Blood Group Antigens