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Peyrard T.,Sanguine | Peyrard T.,Center National Of Reference Pour Les Groupes Sanguins Cnrgs | Rouger P.,Sanguine | Rouger P.,Center National Of Reference Pour Les Groupes Sanguins Cnrgs
Hematologie | Year: 2010

More than 700 000 people carry a rare blood group in France. Rare blood is usually defined as the absence of a high prevalence antigen, or the absence of several antigens within a single blood group system, if its prevalence in most populations is 4/1 000 or less, according to the French regulation. Most rare blood groups are discovered when performing a systematic pretransfusion testing, pregnancy follow-up or blood donor testing. In France, the National Reference Laboratory for Blood Groups (CNRGS) and National Rare Blood Bank (BNSPR) are the two major facilities involved in the transfusion and obstetrical safety of people carrying a rare blood group. To date, 121 rare phenotypes and 44 rare genotypes are defined at the CNRGS. The French national registry of people with a rare blood phenotype/genotype, operated by the CNRGS, currently includes more than 10 200 people, who are urged to frequently give blood for long term cryopreservation at the BNSPR. During the past 15 years, 40 % of the rare blood units have been delivered for patients suffering from sickle cell disease. New DNA-based technologies, such as high-throughput red blood cell genotyping platforms, will certainly be a short/mid-term revolution regarding blood donor recruitment and management of patients with a rare blood group. Source

Roussel M.,Center National Of Reference Pour Les Groupes Sanguins Cnrgs | Poupel S.,Center National Of Reference Pour Les Groupes Sanguins Cnrgs | Nataf J.,Center National Of Reference Pour Les Groupes Sanguins Cnrgs | Juszczak G.,Center National Of Reference Pour Les Groupes Sanguins Cnrgs | And 7 more authors.
Transfusion | Year: 2013

Background: Several studies showed in people of African descent the existence of a genetic linkage between RHD alleles encoding a variant D antigen and a given altered RHCEce allele. RHCEceBI is a rare allele encountered in people of African descent, that encodes a Hr- hrS- Rhce protein. Our study shows that RHCEceBI appears to be genetically linked to two very similar variant RHD alleles, RHDDOL1 and RHDDOL2, and demonstrates for the first time that DOL-2 is a partial D antigen. STUDY DESIGN AND METHODS: After finding out an individual with both RHCEceBI and RHDDOL presumed to be in cis, we hypothesized a genetic linkage between those two genes. All individuals (n = 7) known to carry RHCEceBI in our laboratory, including the index case, were fully investigated at the serologic and molecular level. Results: One individual with alloanti-D, being homozygous for RHCEceBI and RHDDOL2, allowed us to confirm the genetic linkage between those two genes, as well as the partial D status of DOL-2. In the six RHCEceBI remaining individuals, three were found with RHDDOL2 and 3 with RHDDOL1, likely in cis. Three of them made an alloanti-D; one was DOL-1 and two were DOL-2. CONCLUSION: The rare RHCEceBI allele appears to be in cis either with RHDDOL1 or with RHDDOL2 in people of African descent. DOL-1 and DOL-2 must be considered as partial D antigens. We recommend a systematic search for RHDDOL1 and RHDDOL2 in people found to carry RHCEceBI and vice versa, especially in patients with sickle cell disease. © 2012 American Association of Blood Banks. Source

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