Document Detail


A new AQP1 null allele identified in a Gypsy woman who developed an anti-CO3 during her first pregnancy.
MedLine Citation:
PMID:  22348807     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND AND OBJECTIVES: The Colton blood group antigens are carried by the AQP1 water channel. AQP1(-/-) individuals, also known as Colton-null since they express no Colton antigens, do not suffer any apparent clinical consequence but may develop a clinically significant alloantibody (anti-CO3) induced by transfusion or pregnancy. Identification and transfusion support of Colton-null patients are highly challenging, not only due to the extreme rarity of this phenotype, the lack of appropriate reagents in most laboratories, as well as the possibility of confusing it with the recently described CO:-1,-2,3,-4 phenotype where AQP1 is present. This study investigated a new Colton-null case and evaluated three commercially available anti-AQP1s to identify Colton-null red blood cell samples.
METHODS: The Colton-null phenotype was investigated by standard serological techniques, AQP1 sequencing, immunoblot and flow cytometry analyses.
RESULTS: We identified and characterized the Colton-null phenotype in a Gypsy woman who developed an anti-CO3 during her first pregnancy. After developing a simple and robust method to sequence AQP1, we showed that she was apparently homozygous for a new AQP1 null allele, AQP1 601delG, whose product is not expressed in her red blood cells. We also established the Colton specificity of three commercially available anti-AQP1s in immunoblot and/or flow cytometry analyses.
CONCLUSION: This Gypsy woman represents the sixth Colton-null case characterized at the serological, genetic and biochemical levels. The validation here of new reagents and methods should facilitate the identification of Colton-null individuals.
Authors:
C Saison; T Peyrard; C Landre; B A Ballif; K A Schlosser; I Dettori; C Chicheportiche; P Nemeth; J-P Cartron; L Arnaud
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-02-20
Journal Detail:
Title:  Vox sanguinis     Volume:  103     ISSN:  1423-0410     ISO Abbreviation:  Vox Sang.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-07-18     Completed Date:  2013-07-08     Revised Date:  2014-06-23    
Medline Journal Info:
Nlm Unique ID:  0413606     Medline TA:  Vox Sang     Country:  England    
Other Details:
Languages:  eng     Pagination:  137-44     Citation Subset:  IM    
Copyright Information:
© 2012 The Author(s). Vox Sanguinis © 2012 International Society of Blood Transfusion.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Alleles*
Aquaporin 1 / blood,  genetics*,  immunology
Blood Group Incompatibility* / blood,  genetics,  immunology
Female
Gypsies
Humans
Isoantibodies / blood*,  immunology
Mutation*
Pregnancy
Pregnancy Complications, Hematologic* / blood,  genetics,  immunology
Grant Support
ID/Acronym/Agency:
P20 GM103449/GM/NIGMS NIH HHS
Chemical
Reg. No./Substance:
0/AQP1 protein, human; 0/Isoantibodies; 146410-94-8/Aquaporin 1

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