An AQP1 allele associated with co(a-b-) phenotype.

S. Vege, S. Nance, D. Kavitsky, X. Li, T. Horn, G. Meny, C. M. Westhoff

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

The Colton (CO) blood group system consists of four antigens, Co(a), Co(b), Co3, and Co4, located on aquaporin-1 (AQP1), with Co(a) highly prevalent in all populations (99.8%). The Colton null phenotype, Co(a-b-), is very rare, and individuals with this phenotype lack the high-prevalence antigen Co3. To date, only six Co(a-b-) probands have been reported and four silencing alleles characterized. We identified an AQP1-null allele in a white woman with anti-Co3 caused by deletion of a G at nucleotide 601 (nt601delG) that results in a frameshift and premature termination (Val201Stop). Available family members were tested for the allele. Although anti-Co3 has been associated with mild to severe hemolytic disease of the fetus and newborn, the antibody was not clinically significant as evidenced by a low titer and delivery of asymptomatic newborns with moderate to weakly positive direct antiglobulin tests for all four pregnancies.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalUnknown Journal
Volume29
Issue number1
StatePublished - 2013

ASJC Scopus subject areas

  • Immunology and Allergy
  • Hematology

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