Mónica López

The BloodGen project: toward mass-scale comprehensive genotyping of blood donors in the European Union and beyond.

Neil D. Avent, Antonio Martinez, Willy A. Flegel, Martin L. Olsson, Marion L. Scott, Núria Nogués, Martin Písǎcka, Geoff Daniels, Ellen van der Schoot, Eduardo Muñiz-Diaz, Tracey E. Madgett, Jill R. Storry, Sigrid H. Beiboer, Petra A. Maaskant-van Wijk, Inge von Zabern, Elisa Jiménez, Diego Tejedor, Mónica López, Emma Camacho, Goedele Cheroutre, Anita Hacker, Pavel Jinoch, Irena Svobodova, and Masja de Haas

The Bloodgen Project of the European Union, 2003-2009

The Bloodgen project was funded by the European Commission between 2003 and 2006, and involved academic blood centres, universities, and Progenika Biopharma S.A., a commercial supplier of genotyping platforms that incorporate glass arrays. The project has led to the development of a commercially available product, BLOODchip, that can be used to comprehensively genotype an individual for all clinically significant blood groups. The intention of making this system available is that blood services and perhaps even hospital blood banks would be able to obtain extended information concerning the blood group of routine blood donors and vulnerable patient groups. This may be of significant use in the current management of multi-transfused patients who become alloimmunised due to incomplete matching of blood groups. In the future it can be envisaged that better matching of donor-patient blood could be achieved by comprehensive genotyping of every blood donor, especially regular ones. This situation could even be extended to genotyping every individual at birth, which may prove to have significant long-term health economic benefits as it may be coupled with detection of inborn errors of metabolism.

Rh-null phenotype caused by a complete RHAG deletion

R hD and RhCE proteins on the red blood cell (RBC) membrane are part of a multiprotein complex. RhAG, a member of the Rh protein family, is one of the key components of that complex. Mutations in RHAG can lead to reduced expression (Rhmod phenotype) or no expression (Rhnull phenotype) of Rh antigens on the RBC membrane. Reported RHAG mutations that cause a Rhnull phenotype include missense substitutions, altered splicing substitutions, and small (oneto two-nucleotide) deletions. Here we report a Rhnull case caused by a complete deletion of the RHAG gene.

Performance evaluation study of ID RHD XT, a new genotyping assay for the detection of high-prevalence RhD negative and weak D types

Routine serologic D typing does not distinguish between weak D subtypes and partial D phenotypes. The goal of this study was to validate the performance of the ID RHD XT genotyping assay.