Suppr超能文献

对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分析。

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

机构信息

Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, Australia.

Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Australia.

出版信息

Blood Transfus. 2024 Nov;22(6):464-474. doi: 10.2450/BloodTransfus.664. Epub 2024 Mar 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 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.

摘要

背景

血液系统疾病常需要输血治疗。许多血型抗原和变体具有人群特异性,对于稀有血型患者,需要广泛筛选供者以寻找适合输血的匹配物。尽管由于肾脏疾病和贫血的患病率较高,澳大利亚原住民群体对输血的需求更高,但对于他们的血型变体知之甚少。

材料与方法

本研究采用下一代测序和分析方法,对来自昆士兰东南部的 245 名澳大利亚原住民个体进行检测,以预测 36 个血型系统的抗原表型。

结果

我们报告了 RH、FY 和 JR 血型系统中潜在的弱抗原,这些抗原在输血和妊娠环境中具有潜在的临床意义。其中包括部分 DIII 型 4、弱 D 型 33 和 Del RHD(IVS2-2delA)。还检测到罕见的 Rh 表型 D+C+E+ c-e+和 D+C+E+ c+e-。

讨论

本研究中全面分析鉴定的血型遗传变体谱将提供深入了解,并为改善原住民健康提供机会,有助于为特定人群的输血需求识别合适的血液产品。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/730b/11576151/95c086922868/BLT-22-464_g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验