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 journalArticle

1 Citation (Scopus)

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
JournalImmunohematology / American Red Cross
Volume29
Issue number1
StatePublished - 2013
Externally publishedYes

Fingerprint

Aquaporin 1
Alleles
Phenotype
Fetal Erythroblastosis
Coombs Test
Antigens
Blood Group Antigens
Fetus
Nucleotides
Newborn Infant
Pregnancy
Antibodies
Population

ASJC Scopus subject areas

  • Hematology
  • Immunology and Allergy

Cite this

Vege, S., Nance, S., Kavitsky, D., Li, X., Horn, T., Meny, G., & Westhoff, C. M. (2013). An AQP1 allele associated with co(a-b-) phenotype. Immunohematology / American Red Cross, 29(1), 1-4.

An AQP1 allele associated with co(a-b-) phenotype. / Vege, S.; Nance, S.; Kavitsky, D.; Li, X.; Horn, T.; Meny, G.; Westhoff, C. M.

In: Immunohematology / American Red Cross, Vol. 29, No. 1, 2013, p. 1-4.

Research output: Contribution to journalArticle

Vege, S, Nance, S, Kavitsky, D, Li, X, Horn, T, Meny, G & Westhoff, CM 2013, 'An AQP1 allele associated with co(a-b-) phenotype.', Immunohematology / American Red Cross, vol. 29, no. 1, pp. 1-4.
Vege S, Nance S, Kavitsky D, Li X, Horn T, Meny G et al. An AQP1 allele associated with co(a-b-) phenotype. Immunohematology / American Red Cross. 2013;29(1):1-4.
Vege, S. ; Nance, S. ; Kavitsky, D. ; Li, X. ; Horn, T. ; Meny, G. ; Westhoff, C. M. / An AQP1 allele associated with co(a-b-) phenotype. In: Immunohematology / American Red Cross. 2013 ; Vol. 29, No. 1. pp. 1-4.
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