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下一代测序技术可用于识别铁状态并使献血者的个体体验个性化。

Next generation sequencing to identify iron status and individualise blood donors' experience.

机构信息

Clinical Services and Research, Australian Red Cross Lifeblood, Brisbane, Australia.

School of Biomedical Sciences, Queensland University of Technology, Brisbane, Australia.

出版信息

Blood Transfus. 2023 Nov 10;21(6):463-471. doi: 10.2450/BloodTransfus.499.

Abstract

BACKGROUND

Young adults form the majority of first-time blood donors to Australian Red Cross Lifeblood. However, these donors pose unique challenges for donor safety. Young blood donors, who are still undergoing neurological and physical development, have been found to have lower iron stores, and have higher risks of iron deficiency anaemia when compared to older adults and non-donors. Identifying young donors with higher iron stores may improve donor health and experience, increase donor retention, and reduce the burden on product donation. In addition, these measures could be used to individualise donation frequency.

MATERIALS AND METHODS

Stored DNA samples from young male donors (18-25 years; No.=47) were sequenced using a custom panel of genes identified in the literature to be associated with iron homeostasis. The custom sequencing panel used in this study identified and reported variants to human genome version 19 (Hg19).

RESULTS

82 gene variants were analysed. Only one of which, rs8177181, was found to have a statistically significant (p<0.05) association with plasma ferritin level. Heterozygous alleles of this Transferrin gene variant, rs8177181T>A, significantly predicted a positive effect on ferritin levels (p=0.03).

DISCUSSION

This study identified gene variants involved in iron homeostasis using a custom sequencing panel and analysed their association with ferritin levels in a young male blood donor population. Additional studies of factors associated with iron deficiency in blood donors are required if a goal of personalised blood donation protocols is to be achieved.

摘要

背景

澳大利亚红十字会生命血库的首次献血者大多是年轻人。然而,这些献血者对献血者安全构成了独特的挑战。与老年人和非献血者相比,年轻的献血者(18-25 岁)仍处于神经和身体发育阶段,他们的铁储量较低,缺铁性贫血的风险更高。确定铁储量较高的年轻献血者可以改善献血者的健康和体验,提高献血者的保留率,并减轻产品捐赠的负担。此外,这些措施可以用于个性化捐赠频率。

材料和方法

使用文献中确定与铁稳态相关的基因定制面板对年轻男性献血者(18-25 岁;No.=47)的储存 DNA 样本进行测序。本研究中使用的定制测序面板鉴定并报告了人类基因组版本 19(Hg19)的变体。

结果

分析了 82 个基因变体。只有一个,rs8177181,与血浆铁蛋白水平有统计学意义(p<0.05)的关联。该转铁蛋白基因变体 rs8177181T>A 的杂合等位基因显著预测对铁蛋白水平有积极影响(p=0.03)。

讨论

本研究使用定制测序面板鉴定了与铁稳态相关的基因变体,并分析了它们与年轻男性献血者人群中铁蛋白水平的关联。如果要实现个性化献血方案的目标,则需要对与献血者缺铁相关的因素进行进一步研究。

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