1. Apologies for absence: Geoff Daniels, Greg Denomme, Masja de Haas, Nuria Nogues, Silvano Wendel. No response to meeting invitation: Lung-Chih Yu

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1 Working Party on Red Cell Immunogenetics and Blood Group Terminology Minutes of the meeting held on Saturday 31 st May 2014 ( ) in Room 301A, COEX Convention and Exhibition Centre, Seoul, South Korea. Present Members: Lilian Castilho, Bill Flegel, Christof Gassner, Cathy Hyland, Christine Lomas Francis, Joann Moulds, Martin Olsson, Thierry Peyrard, Ellen van der Schoot, Jill Storry, Yoshihiko Tani, Franz Wagner, Connie Westhoff, Vered Yahalom. Guests: Qing Chen, Mikael Christophersen, Sofia Lejon Crottet, Hein Hustinx, Ikudo Kamada, Margaret Keller, Laia Jofre, Mónica Lopez, Rhiannon McBean, Erwin Scharberg, Kshitij Srivastana, Junko Takahashi, Nicole Thornton, Christoph Weinstock. 1. Apologies for absence: Geoff Daniels, Greg Denomme, Masja de Haas, Nuria Nogues, Silvano Wendel. No response to meeting invitation: Lung-Chih Yu 2. Minutes of the Cancun meeting, July Agreed as an accurate record of the meeting There were no matters arising from the minutes. 3. Membership 3.1. Retiring members: Phillippe Rouger and Marion Scott have retired from the working party. We thank them for their contributions over the years.george Garratty retired from the working party shortly before he passed away. He is thanked posthumously for his longstanding contributions Nominations were received from the following: Qing Chen (Nanjing, China), Margaret Keller (Philadelphia, USA) and Nicole Thornton (Bristol, UK). The members agreed unanimously in favour of membership for the three nominees. In accordance with previous meetings, the new members did not have voting rights for this meeting Review of terms for the Executive Committee: The ISBT Executive office has draft guidelines for Working Party membership ISBT Working Parties Proposed General Operating Principles revised (2009) which states that the Term period for chair and committee Maximum: 4 years per term and two terms. Based on this recommendation, all current positions were open for election and there was a discussion regarding whether a Vice Chair position was required. The Vice Chair position was agreed as useful. A list of membership tenure in the working party can be found on the ISBT website Election of WP chair: Jill Storry was re-elected unopposed. 1

2 3.5. Election of WP Vice Chair: Lilian Castilho was elected by a unanimous vote of those members in attendance (12 members eligible of a possible 19) Election of WP Secretary: Connie Westhoff was re-elected unopposed Election of WP Treasurer: Christine Lomas Francis was re-elected unopposed. 4. Treasurer and finances The Working Party has no income and Christine confirmed there was nothing to report. 5. Reports of changes to blood group systems, collections and series (including changes made provisionally since the last meeting, see Table 1 below): 5.1. MNS system: Two new antigens 5.2. Lu system: One new antigen 5.3. GLOB: One new antigen 5.4. Collections: made obsolete; ABTI returned to 901 series (see 6) Series: One antigen made obsolete (see 8.1) Series: See 5.4; New blood group systems: Two new blood group systems (see below). 6. Proposal: that Vel is assigned blood group system status (034) - Jill Storry Based on the evidence presented and the three papers listed below, Vel was assigned blood group status by a unanimous vote. There was a discussion on what should happen to ABTI and it was decided that collection should be made obsolete and that ABTI should return to the 901 series and take up its old number (901015). This action sets the precedent for such changes since it had been decided by the working party previously that once a number had been made obsolete, it should not be reused; however it seemed less logical to give ABTI a new number under the circumstances. 1. Storry JR, Jöud M, Christophersen MK, et al. Homozygosity for a null allele of SMIM1 defines the Velnegative blood group phenotype. Nat Genet May;45(5): Cvejic A, Haer-Wigman L, Stephens JC, et al. SMIM1 underlies the Vel blood group and influences red blood cell traits. Nat Genet May;45(5): Ballif BA, Helias V, Peyrard T, et al. Disruption of SMIM1 causes the Vel- blood type. EMBO Mol Med May;5(5): Proposal: that CD59 is assigned blood group system status (035) - Christoph Weinstock (Ulm, Germany), Bill Flegel Based on the publication of a case report in which a young patient with a CD59 deficiency produced an alloantibody specific for CD59, blood group status was unanimously assigned. 1. Weinstock C, von Zabern I, Höchsmann B, et al. CD59 defines a new blood group system. Vox Sanguinis 2013, 105 (Suppl. 1): Anliker M, von Zabern I, Höchsmann B, et al. A new blood group antigen is defined by anti-cd59, detected in a CD59-deficient patient. Transfusion. 2014;54: While it was relatively easy to assign blood group status to CD59, there was a long debate regarding what the antigen should be called. The final proposal that was accepted by the working party was that the antigen described by the antibody made by the report proband should be named CD

3 8. MNS blood group system 8.1. Rhiannon McBean (Brisbane, Australia) presented data that showed that SARA antigen (700052) was encoded by a single nucleotide change c.240g>t in exon 3 of GYPA, which changes p.arg80 to Ser. The provisionally assigned number MNS47 was ratified by the working party Cathy Hyland presented data to support a proposal from Dr. Ling Wei that GP.Kip and GP.Yak, are encoded by the same GYP(B-A-B) hybrid that produces Mur, Hil, MUT, MINY, as well as the antigen Kipp. Kipp is recognized by the anti-hop+nob sera, Anek and Raddon, but not by antisera specific for thehop or Nob antigens; as well as by the original serum. Dr Wei has established the breakpoints in the hybrid gene. The resultant GYP(B-A- B) hybrid encodes a serine, p.y51s,which distinguishes this hybrid protein from other known B-A-B hybrids. The provisionally assigned number MNS48 was ratified by the working party. 9. Rh blood group system Joyce Poole had submitted a proposal regarding 3 different but related Rh51-like antigens. After review of the documentation sent to the working party members prior to the meeting, it was decided that more cross-testing was required. Nicole Thornton will follow up. 10. Lutheran blood group system Hein Hustinx (Bern, Switzerland) submitted a proposal for a new high prevalence antigen, LUIT. The antigen was assigned to Lutheran based on the serology (LU23) and the identification of two changes in LU: sequencing showed two novel homozygous mutations, one in exon 4, c.469g>a (p.gly157arg), and one in exon 10, c.1289c>t (p.thr430ile). There was insufficient evidence to determine which of the amino acids is responsible for the absence of the antigen, and thus the allele number remains provisional: LU* Cromer blood group system This was a follow-up on a previous proposal from 2012 to assign CROK blood group antigen status, however no additional work has been done in the interim and the status remains unchanged until more proof of the molecular basis has been obtained. 12. GLOB blood group system Martin Olsson presented data that showed that PX2, a carbohydrate antigen determined by a terminal B3-N-acetylgalactosamine built on paragloboside, was the product of B3GALNT1, and proposed therefore, that PX2 should be classified as a member of the GLOB blood group system. He further proposed that P is assigned the name GLOB1, and PX2 becomes GLOB2. This was approved by the working party. This leaves LKE as the sole antigen in the GLOB (209) collection. 13. Blood group allele terminology A discussion was held on assignments of blood group systems. Bill Flegel reiterated the idea that RH should be handled by one curator for practical reasons as every other blood group system is handled, because it is one blood group system. As an example, MNS is also a system with 2 genes and is handled by one curator only (Jill Storry). Similar to Jill s role for the MNS system, Bill Flegel offered to be the person in charge for the RH system (RHD and RHCE combined). After discussion, the group agreed to continue with the current system pending a review of the terminology (see next item). A single curator for 3

4 the RH system was not confirmed, and Connie Westhoff remains the curator for RHCE. Consequently, Bill and Franz Wagner confirmed that they would not collate RHD. Qing Chen agreed to be the contact person/curator for these tables. Each member present was asked whether he/she would maintain the current blood group system assigned and each agreed (with the above-mentioned exception). Franz Wagner volunteered to take over curation of H and CO A good discussion was held regarding the current terminology and how we should go forward. Bill Flegel reiterated the problems with the current terminology. He was asked and agreed to draft a model, together with all interested members of the WP, based on RH as to how he proposed the terminology should develop. Bill was encouraged to recruit members of the working party to form a working group for this purpose and it was made clear that we could approach the ISBT for a face-to-face meeting for such a group LRG Jill Storry reported on a meeting held at the ISBT office in October 2013 regarding the Locus Reference Genome project. Currently all blood group genes have been assigned a LRG number based on a reference sequence however, the LRG team have asked us to check these sequences. The idea is that it will provide the gold standard reference sequence for a given gene. Refer to for a summary of the project. After much discussion, the consensus from the group was that we would check the LRG references according to the assignment table. 14. Any other business Christoph Gassner reported on issues regarding new alleles in which two low prevalence mutations are detected, notably in the LU gene. This is consistent with issues raised by Joann Moulds regarding the Knops blood group system at the Cancun meeting. The conclusion is that the next generation of nomenclature must be able to take into account these alleles. The meeting was adjourned a little earlier than scheduled at The next meeting of the Working Party is scheduled to be held in conjunction with the International Congress of the ISBT in Dubai, We can discuss nearer the ISBT Regional meeting in London, June 2015 whether it would be a good idea to meet then. 4

5 Table: New antigens added to existing blood group systems Blood Group Antigen Alt Prevalence Molecular basis Reference System number name MNS MNS47 SARA Low GYPA c.240g>t p.r80s McBean et al. Vox Sanguinis 2014;107(Suppl. 1):17 MNS MNS48 KIPP Low GYP(B-A-B) hybrid p.y51s LU LU23 LUIT High LU c.469g>a, 1289C>T p.g157r, p.t430i Flower et al. Vox Sanguinis 2013;105(Suppl. 2):10 Hustinx et al. Vox Sanguinis 2014;107(Suppl.1):172 GLOB GLOB2 PX2 High* B3GALNT1 Westman et al. Transfusion 2013:53(Suppl.):15A * Although PX2 is a product of β1,3galnac-t1 and therefore present on all normal RBCs, it is readily detectable only on RBCs of the p phenotype. 5