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DETECTION OF NEW, VERY RARE AND RARE HLA ALLELES AMONG VOLUNTEER HEMATOPOIETIC STEM CELL DONORS FROM CROATIA

Human leukocyte antigen (HLA) typing of more than 50, 000 registered volunteer hematopoietic stem cell donors from the Croatian Bone Marrow Donor Registry (CBMDR) provided a large dataset for studying human leukocyte HLA allele polymorphism in the Croatian population which in a certain number of cases lead to the identification of new, rare and very rare HLA alleles. During the last two years we have identified two new HLA alleles and a number of very rare or rare HLA alleles by a sequence-based typing (SBT) method using Olerup SBT kits and Assign™ SBT software for the analysis. HLA-A*01:200 was the first new allele reported in 2016. In the meantime it was confirmed in two siblings, volunteer donors from CBMDR originating from a different part of Croatia (north-west) to the donor in which it was identified for the first time (middle Dalmatia). Further analysis revealed that all three individuals carry the haplotype: HLA-A*01:200~B*08:01~C*07:01~DRB1*03:01~DQB1* 02:01~DPB1*01:01, suggesting the diversity of AH 8.1 haplotype in the Croatian population. The second new allele has been officially assigned by the WHO Nomenclature Committee in December 2017 and the given sequence name is HLA-B*18:37:02. To analyze which of the HLA alleles determined in our laboratory are frequent, rare or very rare, we used the Rare Allele Detector tool incorporated to the Allele Frequency Net Database (AFND) website. Apart from the two new alleles found, three more alleles were determined as very rare: HLA-B*08:78, HLA-B*18:103 and HLA-DRB1*11:04:06. The HLA-A*24:41, HLA-B*07:02: 28, HLA-B*35:03:03, HLA-B*35:101:01, HLA-B*39:40: 01N, HLA-B*44:16, HLA-B*51:78, HLA-DRB1*01:31 and HLA-DRB1*13:23:01 were classified as rare alleles. All this data complements the knowledge about HLA polymorphisms of the Croatian population, provide foundations for further studies in population genetics and highlights once again the importance of recruiting donors from different populations.

new, rare and very rare HLA HLA alleles, CBMDR

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