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 language | English (US) |
|---|---|
| Pages (from-to) | 1-4 |
| Number of pages | 4 |
| Journal | Immunohematology / American Red Cross |
| Volume | 29 |
| Issue number | 1 |
| State | Published - 2013 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Hematology
- Immunology and Allergy
Cite this
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 journal › Article
}
TY - JOUR
T1 - An AQP1 allele associated with co(a-b-) phenotype.
AU - Vege, S.
AU - Nance, S.
AU - Kavitsky, D.
AU - Li, X.
AU - Horn, T.
AU - Meny, G.
AU - Westhoff, C. M.
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84885796389&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84885796389&partnerID=8YFLogxK
M3 - Article
C2 - 24046915
AN - SCOPUS:84885796389
VL - 29
SP - 1
EP - 4
JO - Immunohematology / American Red Cross
JF - Immunohematology / American Red Cross
SN - 0894-203X
IS - 1
ER -