Blood Group Allele Terminology

As DNA testing for the prediction of blood group phenotypes has become more widely applied, it is important to have an agreed terminology for the multitude of alleles encoding blood group phenotypes. A subgroup of the ISBT Working Party has taken on this task and made a decision that two nomenclatures are required:
1. A comprehensive database in which all blood group alleles can be identified. This would provide the official allele name and would require that the whole coding region of the gene has been sequenced. This is still to be developed.
2. A transfusion medicine-friendly terminology that can be used when only part of the gene has been sequenced or analysed, such as a single nucleotide polymorphism (SNP).


A draft of general guidelines for ‘transfusion medicine’ terminology was developed by a group consisting of Geoff Daniels, Marion Reid, Jill Storry, Connie Westhoff, and Martin Olsson. Additionally, special guidelines for naming RH alleles were developed in parallel by Connie Westhoff due to the complexity of RH. These two guidelines were approved by the Working Party at the ISBT meeting in Berlin, June 2010. Since the terminology is new and will take some time to adopt into routine practice, all comments are welcomed and will be discussed at the next Working Party meeting in 2012. Currently, guidelines and tables for 27 of the 30 blood groups are listed, as well mutations in GATA1 and KLF1 responsible for blood group phenotypes. Other systems will be added as they are completed.


We anticipate that the mechanism for obtaining ISBT names for newly identified alleles will parallel that already applied for blood group antigens and encourage everyone to send new alleles for numbering as follows:
ABO Martin Olsson martin_l.olsson(at)med.lu.se
RH Connie Westhoff cwesthoff(at)nybloodcenter.org
MNS Jill Storry jill.storry(at)med.lu.se
Others Marion Reid mreid(at)nybloodcenter.org
Please send any comments or corrections of errors to Jill Storry: jill.storry(at)med.lu.se
 

ABO alleles                                             LW alleles
MNS alleles                                             H alleles
P1PK alleles                                            XK alleles
RH D negative alleles                              GE alleles
RH Partial D alleles                                  CROM alleles
RH Weak D and Del alleles                      KN alleles
RHCE alleles                                            IN alleles
LU alleles                                                OK alleles
KEL alleles                                              RAPH alleles
FY alleles                                                JMH alleles
JK alleles                                                I alleles
DI alleles                                                 GLOB alleles
YT alleles                                               GIL alleles
XG alleles                                               RHAG alleles
SC alleles                                               GATA1 alleles
DO alleles                                               KLF1 alleles
CO alleles