提供RhD阴性红细胞输血在东亚是一个挑战,以中国为代表,韩国,和日本,其中RhD阴性的频率是世界上最低的。
在中国的56个民族中,汉族的RhD阴性频率,普遍的种族,为0.5%或更低,与大多数其他种族相似。维吾尔族人报告的RhD阴性频率最高,高达4.7%,相比之下,美国为13.9%。然而,估计有715万RhD阴性的人生活在中国。RhD阴性表型通常是由于整个RHD基因的缺失,导致缺乏RhD蛋白和D抗原。DEL表型携带少量D抗原,在常规血清学中呈RhD阴性。汉族RhD阴性个体的DEL患病率平均为23.3%,回族占17%,维吾尔族占2.4%。亚洲类型的DEL,也称为RHD*DEL1和RHD:c.1227G>A等位基因,是迄今为止在中国观察到的13个DEL等位基因中最普遍的。
这篇综述的目的是总结有关DEL的数据,并为使用分子测定法管理东亚DEL等位基因的患者和供体的实际战略决策提供基础。
Providing RhD-negative red cell transfusions is a challenge in East Asia, represented by China, Korea, and Japan, where the frequency of RhD-negative is the lowest in the world.
Among 56 ethnic groups in China, the RhD-negative frequency in Han, the prevalent ethnicity, is 0.5% or less, similar to most other ethnic groups. The Uyghur ethnic group has the highest reported RhD-negative frequency of up to 4.7%, as compared to 13.9% in the US. However, an estimated 7.15 million RhD-negative people live in China. The RhD-negative phenotype typically results from a loss of the entire RHD gene, causing the lack of the RhD protein and D antigen. The DEL phenotype carries a low amount of the D antigen and types as RhD-negative in routine serology. The DEL prevalence in RhD-negative individuals averages 23.3% in the Han, 17% in the Hui and 2.4% in the Uyghur ethnicities. The Asian type DEL, also known as RHD*DEL1 and RHD:c.1227G > A allele, is by far the most prevalent among the 13 DEL alleles observed in China.
The purpose of this review is to summarize the data on DEL and to provide a basis for practical strategy decisions in managing patients and donors with DEL alleles in East Asia using molecular assays.