Blood Transfusion - 6 2016 (November-December)
The AQP1 del601G mutation in different European Romani (Gypsy) populations
Authors:  Brigitte K. Flesch, Bharti Morar, David Comas, Eduardo Muñiz-Diaz, Núria Nogués, Luba Kalaydjieva
Pages:  580-581
To cite this article:  Blood Transfus 2016; 14: 580-1
Doi:  10.2450/2016.0274-15
Published online:  11/05/2016

Dear Sir,
The extremely rare Colton (Co) null phenotype enables iso-immunisation against the Co3 antigen. Co3 antibodies may induce haemolytic disease of the foetus or the newborn (HDFN) or haemolytic transfusion reactions that represent a challenge for blood centres to provide compatible blood for the patients. In most published cases, a frame shift or single amino acid change were causative for the Co-negative phenotype in single individuals1. In 2014, we published in this Journal an AQP1 c.601delG mutation (rs199474670) related to the Co-negative phenotype in 4 independent patients belonging to the Romani (Gypsy) ethnic group2, adding to the single case report of this mutation already published3. Three of these 5 patients were of Spanish origin. Because there are an estimated 9 million Romani in Europe4, a disproportional distribution of the AQP1 601delG mutation in this ethnic group implies an enhanced risk of incompatible blood transfusions for Romani patients. We, therefore, aimed to screen different European Romani populations for the mutation to estimate the risk of potential iso-immunisation. [...]
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