Original article

Ahead-of-Print

Genomic characterisation of clinically significant blood group variants in Aboriginal Australians

Authors

Key words: blood transfusion, population genetics, rare blood types, next-generation sequencing
Publication Date: 2024-03-11

Abstract

Background - Hematological disorders are often treated with blood transfusions. Many blood group antigens and variants are population-specific, and for patients with rare blood types, extensive donor screening is required to find suitable matches for transfusion. There is a scarcity of knowledge regarding blood group variants in Aboriginal Australian populations, despite a higher need for transfusion due to the higher prevalence of renal diseases and anaemia.

Materials and methods - In this study, we applied next-generation sequencing and analysis to 245 samples obtained from Aboriginal Australians from South-East Queensland, to predict antigen phenotypes for 36 blood group systems.

Results - We report potential weak antigens in blood group systems RH, FY and JR that have potential clinical implications in transfusion and pregnancy settings. These include partial DIII type 4, weak D type 33, and Del RHD (IVS2-2delA). The rare Rh phenotypes D+ C+ E+ c− e+ and D+ C+ E+ c+ e− were also detected.

Discussion - The comprehensive analyses of blood group genetic variant profiles identified in this study will provide insight and an opportunity to improve Aboriginal health by aiding in the identification of appropriate blood products for population-specific transfusion needs.

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Authors

Sudhir Jadhao - Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, Australia; Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia

Candice Davison - Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia

Eileen Roulis - Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia

Simon Lee - Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, Australia

Tamika Campbell - Carbal Medical Services, Toowoomba, Australia

Reece Griffin - Carbal Medical Services, Toowoomba, Australia

Maree Toombs - School of Population Health, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia

Alex Brown - National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australia; Indigenous Genomics, Telethon Kids Institute, Adelaide, Australia

Maree Perry - Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia

Bushra Nasir - Rural Clinical School, Faculty of Medicine, The University of Queensland, Toowoomba, Australia

David O. Irving - Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia; University of Technology, Sydney, Australia

Catherine A. Hyland - Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia

Robert L. Flower - Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia

Shivashankar H. Nagaraj - Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, Australia; Translational Research Institute, Brisbane, Australia

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