Genomic characterization of clinically significant blood group variants in Aboriginal Australians.

Autor:	Jadhao S; Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, Australia.; Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia., Davison C; Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia., Roulis E; Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia., Lee S; Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, Australia., Campbell T; Carbal Medical Services, Toowoomba, Australia., Griffin R; Carbal Medical Services, Toowoomba, Australia., Toombs M; School of Population Health, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Brown A; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australia.; Indigenous Genomics, Telethon Kids Institute, Adelaide, Australia., Perry M; Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia., Nasir B; Rural Clinical School, Faculty of Medicine, The University of Queensland, Toowoomba, Australia., Irving DO; Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia.; University of Technology, Sydney, Australia., Hyland CA; Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia., Flower RL; Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia., Nagaraj SH; Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, Australia.; Translational Research Institute, Brisbane, Australia.
Jazyk:	angličtina
Zdroj:	Blood transfusion = Trasfusione del sangue [Blood Transfus] 2024 Nov; Vol. 22 (6), pp. 464-474. Date of Electronic Publication: 2024 Mar 11.
DOI:	10.2450/BloodTransfus.664
Abstrakt:	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 anemia. 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.
Databáze:	MEDLINE
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