Towards a blood group allele terminology for the 21 st century • Disclaimer. The views expressed do not necessarily represent the view of the National Institutes of Health, the Department of Health and Human Services, or the U.S. Federal Government. W. A. Flegel MD • Disclosure. RHD genotyping: royalties and intellectual property rights Chief, Laboratory Services Section, Dept. Transfusion Medicine, Clinical Center • Immucor: Scientific Advisory Board (BioArray) National Institutes of Health, Bethesda, Maryland Proposal of 19 July 2007 Proposed terminology 2007 • Has been sent to all attendees of the 17 July 2007 teleconference – Geoff D, Jill S – Martin O, Marion R, Connie W, Teresa Z Martin O Marion R Connie W Teresa Z • Has been labeled as “proposal” Proposed terminology 2007 Proposed terminology 2007 • Has been sent to all attendees of the • Has been sent to all attendees of the 17 July 2007 teleconference 17 July 2007 teleconference • Has been labeled as “proposal” • Has been labeled as “proposal” • Has not been distributed to the other H t b di t ib t d t th th • Has not been distributed to the other H t b di t ib t d t th th members of the ISBT terminology WP members of the ISBT terminology WP – until 22 Dec 2011 – until 22 Dec 2011 – after I filed a complaint on 2 Dec 2011 • Has not been discussed – until today 1
Vox Sang 2011 proposal Email 12 March 2012 to all • The democratic process requires • I am concerned about the Vox Sang 2011 terminology proposal, – that proper hearing is given to all involved parties and their views • because it puts us in a bind and – before a proposal is brought before a proposal is brought • imposes restrictions i t i ti to a vote for approval – which may unnecessarily inhibit the further • The petite group did not give proper hearing development over time. • did not allow the presentation of other views • The gist of my 2007 terminology proposal is – eg. terminology proposal 2007 • avoidance of these unnecessary restrictions. Key elements Key elements proposed terminology 2007 proposed terminology 2007 • One name per allele • One name per allele • Lead “0” can be omitted • Vox Sang 2011 proposal: • Examples – 2 or more names per allele • RHD *001.000.000.000 = RHD *1 • RHD *003.001.001.001 = RHD *3.1.1.1 Key elements Key elements proposed terminology 2007 proposed terminology 2007 • One name per allele • One name per allele • Numerical terminology: RHD *1.1.1.1 – Unique allele identifier • Numerical terminology: RHD *1.1.1.1 – No letters – All parts with numbers only are mandatory All t ith b l d t 2
Optional suffix for serologic Example for RHD consensus and other information • Serologic information • RHD consensus = Eurasian D cluster – not critical for definition of an allele • RHD *001.000.000.000 • Serologic evidence may change • RHD *1 (shorthand) & will improve over time & will improve over time • Can be extensive • Suffix information can be provided on a website – where it can be updated & even changed Examples for D clusters Examples for Eurasian D • RHD *1 RHD consensus • RHD *1.0 RHD consensus • RHD *2 DIVa cluster • RHD *1.1 group of Eurasian partial D • RHD *3 DAU cluster • RHD *1.2 D category group • RHD *4 weak D type 4 cluster • RHD *1.3 group of Eurasian weak D types • RHD *1.4 group of Eurasian D neg & DEL Examples for Eurasian D Examples for Eurasian D • RHD *1.0 RHD consensus • RHD *1.0 RHD consensus • RHD *1.1 group of Eurasian partial D • RHD *1.1 group of Eurasian partial D – RHD *1.1.1 DNB (is frequent) • RHD *1.2 D category group – RHD *1.2.2 D category II – RHD *1.2.6 D category VI – RHD *1.2.7 D category VII 3
Examples for Eurasian D Examples for Eurasian D • RHD *1.0 RHD consensus • RHD *1.0 RHD consensus • RHD *1.1 group of Eurasian partial D • RHD *1.1 group of Eurasian partial D • RHD *1.2 D category group • RHD *1.2 D category group – RHD *1.2.2 D category II • RHD *1.3 group of Eurasian weak D types – RHD *1.2.6 D category VI – RHD *1.3.1 weak D type 1 • RHD *1.2.6.1 D category VI type 1 – RHD *1.3.1.1 weak D type 1.1 • RHD *1.2.6.2 D category VI type 2 • RHD *1.2.6.3 D category VI type 3 • RHD *1.2.6.4 D category VI type 4 – RHD *1.2.7 D category VII Examples for Eurasian D Example for suffix • RHD *1.0 RHD consensus • RHD *1.0 RHD consensus • RHD *1.1 group of Eurasian partial D • RHD *1.1 group of Eurasian partial D – RHD *1.1.1 DNB • RHD *1.2 D category group • RHD *1.3 group of Eurasian weak D types – RHD *1.1.1.dnb • RHD *1.4 group of Eurasian D neg & DEL – RHD *1.4.1 RHD (K409K) (most frequent) – RHD *1.4.2 RHD (IVS3+1G>A) (2 nd most frequ.) Allele terminology should Allele terminology best be based on alleles • Should best be based on alleles RHD & RHCE RHD & RHCE Duffy Duffy • Will benefit from knowledge on the relationship between alleles (phylogeny) • Serology is an adjunct S l i dj t • Transfusion 2009;49:1056 & 2012;52:1260 4
Allele terminology Allele terminology • Should best be based on alleles • Should best be based on alleles • Will benefit from knowledge on the • Will benefit from knowledge on the relationship between alleles (phylogeny) relationship between alleles (phylogeny) • Serology is an adjunct S l i dj t • Serology is an adjunct S l i dj t – Important • Serology will often be unknown, – Yet, serology cannot determine the allele when novel alleles are detected terminology and need a name Example for an Example for an implementation implementation • Problems of Vox Sang 2011 proposal • Problems of Vox Sang 2011 proposal • Two names for the same allele • Two names for the same allele • Serologic identifiers in the name • Serologic identifiers in the name Comparison Summary and outlook Proposed terminology Proposed terminology • Working party shall refrain from approving 2007 Vox Sang. 2011 the Vox Sang. 2011 proposal. • Molecular biology • Serology “leads” information “leads” • It would be best to start from scratch. • Alleles are sorted in a • Alleles are “defined” by a • The group of individuals assigned to Th f i di id l i d t “nested” approach rather arbitrary serology • Sorting is useful for • Sorting disregards address RH allele nomenclature should be molecular testing & molecular reporting inclusive and open to all interested reporting issues working party members. • Suffixes can be used for • Serology is squeezes into serologic description the terminology and cannot be changed – if desired 5
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