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估计患有弱或部分RHD变异的患者的血清学认知不足

Glenn Ramsey^1,2, Christina M Barriteau^3,4

¹Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

|April 18, 2024

概括

大多数患有弱或部分RhD变异的患者在血液检测中无法检测到. 需要改进的血清检测方法,以便在输血医学中精确管理RhD.

科学领域:

血液学血液学血液学
遗传学是一个遗传学.
免疫学免疫学免疫学

背景情况:

对于管理RHD红细胞表型较弱或不一致的RHD红细胞表型的患者来说,RHD基因定型至关重要.
许多RHD变体被错误地归类为D阴性或D阳性,使管理复杂化.
弱和部分RHD变异的血清识别率 (RRs) 尚未得到充分确立.

研究的目的:

描述弱和部分RHD变异的血清识别率 (RRs).
评估不同血清学方法在检测RHD变异方面的有效性.
为改善 RhD 血型管理提供数据.

主要方法:

利用了四项美国研究的数据,涉及RHD基因定型用于弱或不一致的RHD表型.
在白人和西班牙裔/拉丁裔人群中使用gnomAD.使用弱D型1,2和3SNV计算的等位基因频率 (AF).
设计了公式来纠正gnomAD中的过度计数,并计算了遗传流行率以确定血清性RRs.

主要成果:

弱D型1-3的整体RR为白人17%,西班牙裔/拉丁裔12%.
对于黑人部分RHD变体,整体RR为11%,但DAR RR达到80%.
与微板相比,凝管方法对一些变体 (类型2,DAU5) 的识别能力更高,而在少数已识别的病例中检测到抗D.

结论:

超过80%的患有弱或部分RHD变异的患者在血清学上仍然未被识别,基于等位基频率.
尽管总体抗D检测率较低,但对部分RHD变异的增强识别在临床上很重要.
目前的血清学方法可能无法充分识别所有患有RHD变异的个体,因此需要改进诊断方法.

关键词:

在Rh血型系统中,Rh血型是Rh.血型分类和交叉匹配.基因频率基因频率现象型现象型是一种现象型.多形态主义的多态主义.单个核酸变体的变体

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