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Colton-null phenotype

MedGen UID:
349540
•Concept ID:
C1862554
•
Finding
Synonym: COLTON-NULL PHENOTYPE
 
OMIM®: 107776; 110450

Recent clinical studies

Etiology

An AQP1 allele associated with co(a-b-) phenotype.
Vege S, Nance S, Kavitsky D, Li X, Horn T, Meny G, Westhoff CM
Immunohematology 2013;29(1):1-4. PMID: 24046915
A new AQP1 null allele identified in a Gypsy woman who developed an anti-CO3 during her first pregnancy.
Saison C, Peyrard T, Landre C, Ballif BA, Schlosser KA, Dettori I, Chicheportiche C, Nemeth P, Cartron JP, Arnaud L
Vox Sang 2012 Aug;103(2):137-44. Epub 2012 Feb 20 doi: 10.1111/j.1423-0410.2012.01590.x. PMID: 22348807Free PMC Article
A functional AQP1 allele producing a Co(a-b-) phenotype revises and extends the Colton blood group system.
Arnaud L, Helias V, Menanteau C, Peyrard T, Lucien N, Ripoche P, Lapègue R, Pham BN, Le Pennec PY, Moulds JJ, Cartron JP
Transfusion 2010 Oct;50(10):2106-16. Epub 2010 Oct 4 doi: 10.1111/j.1537-2995.2010.02687.x. PMID: 20492605
Functional analysis of aquaporin-1 deficient red cells. The Colton-null phenotype.
Mathai JC, Mori S, Smith BL, Preston GM, Mohandas N, Collins M, van Zijl PC, Zeidel ML, Agre P
J Biol Chem 1996 Jan 19;271(3):1309-13. doi: 10.1074/jbc.271.3.1309. PMID: 8576117
ABH and Colton blood group antigens on aquaporin-1, the human red cell water channel protein.
Agre P, Smith BL, Preston GM
Transfus Clin Biol 1995;2(4):303-8. doi: 10.1016/s1246-7820(05)80096-5. PMID: 8542028

Prognosis

Functional analysis of aquaporin-1 deficient red cells. The Colton-null phenotype.
Mathai JC, Mori S, Smith BL, Preston GM, Mohandas N, Collins M, van Zijl PC, Zeidel ML, Agre P
J Biol Chem 1996 Jan 19;271(3):1309-13. doi: 10.1074/jbc.271.3.1309. PMID: 8576117
ABH and Colton blood group antigens on aquaporin-1, the human red cell water channel protein.
Agre P, Smith BL, Preston GM
Transfus Clin Biol 1995;2(4):303-8. doi: 10.1016/s1246-7820(05)80096-5. PMID: 8542028

Clinical prediction guides

Functional analysis of aquaporin-1 deficient red cells. The Colton-null phenotype.
Mathai JC, Mori S, Smith BL, Preston GM, Mohandas N, Collins M, van Zijl PC, Zeidel ML, Agre P
J Biol Chem 1996 Jan 19;271(3):1309-13. doi: 10.1074/jbc.271.3.1309. PMID: 8576117
ABH and Colton blood group antigens on aquaporin-1, the human red cell water channel protein.
Agre P, Smith BL, Preston GM
Transfus Clin Biol 1995;2(4):303-8. doi: 10.1016/s1246-7820(05)80096-5. PMID: 8542028

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