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

IF 2.4 3区医学 Q2 HEMATOLOGY

Blood Transfusion Pub Date : 2024-11-01 Epub Date: 2024-03-11 DOI:10.2450/BloodTransfus.664

Sudhir Jadhao, Candice Davison, Eileen Roulis, Simon Lee, Tamika Campbell, Reece Griffin, Maree Toombs, Alex Brown, Maree Perry, Bushra Nasir, David O Irving, Catherine A Hyland, Robert L Flower, Shivashankar H Nagaraj

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引用次数: 0

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 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.

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澳大利亚原住民中具有临床意义的血型变异的基因组特征。

背景：血液病通常通过输血来治疗。许多血型抗原和变异体都具有人群特异性，对于稀有血型患者，需要对捐献者进行广泛筛查，以找到合适的配型进行输血。尽管澳大利亚土著居民因肾病和贫血发病率较高而需要输血，但他们对血型变异的了解却很少：在这项研究中，我们对从昆士兰东南部澳大利亚原住民那里获得的 245 份样本进行了新一代测序和分析，以预测 36 种血型系统的抗原表型：我们报告了血型系统 RH、FY 和 JR 中潜在的弱抗原，这些抗原对输血和妊娠有潜在的临床影响。这些抗原包括部分 DIII 型 4、弱 D 型 33 和 Del RHD（IVS2-2delA）。此外，还发现了罕见的 Rh 表型 D+ C+ E+ c- e+ 和 D+ C+ E+ c+ e-：本研究中发现的血型基因变异图谱的综合分析将提供洞察力和机会，通过帮助识别适合特定人群输血需求的血液制品来改善原住民的健康状况。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Blood Transfusion HEMATOLOGY-

CiteScore

6.10

自引率

2.70%

发文量

审稿时长

2 months

期刊介绍： Blood Transfusion welcomes international submissions of Original Articles, Review Articles, Case Reports and Letters on all the fields related to Transfusion Medicine.