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Red Cell Immunohematology Research Conducted in China ÔØ ÅÒÙ×Ö ÔØ Red Cell Immunohematology Research Conducted in China Ziyan Zhu, Yuli Ye, Qin Li, Hongwei Gao, Yinxia Tan, Wei Cai PII: S0887-7963(16)30089-X DOI: doi: 10.1016/j.tmrv.2016.11.004 Reference: YTMRV 50494 To appear in: Transfusion Medicine Reviews Received date: 14 June 2016 Revised date: 15 November 2016 Accepted date: 15 November 2016 Please cite this article as: Zhu Ziyan, Ye Yuli, Li Qin, Gao Hongwei, Tan Yinxia, Cai Wei, Red Cell Immunohematology Research Conducted in China, Transfusion Medicine Reviews (2016), doi: 10.1016/j.tmrv.2016.11.004 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. ACCEPTED MANUSCRIPT 1 Red Cell Immunohematology Research Conducted in China Ziyan Zhu1, Yuli Ye 1, Qin li1, Hongwei Gao2, Yinxia Tan2, Wei Cai3 1 Shanghai Blood Center, Shanghai, China 2 Beijing Institute of Transfusion Medicine, Beijing, China 3 The Johns Hopkins Hospital, Baltimore, USA Corresponding Author: Ziyan Zhu E-mail: [email protected] Abstract ABO subtypes and RhD variants are the most studied blood groups in China. Some of the polymorphisms in these two blood groups have direct clinical relevance. Molecular diagnosis of blood group polymorphisms is underway in China. In addition, research groups have developed methods such as screening for blood group mimetic peptides using phage display technology. New reagents, akin to antibodies directed against RhD and ABO, are being investigated using aptamer-based techniques. Progress is also being made in the development of synthetic exoglycosidases for conversion of group A and/or B antigens to group O. Development of methoxy-polyethylene-glycol modified red cells has been successful in vitro but has not reached clinical application. In this paper, we summarize red cell immunohematology research that has been conducted in China. Keywords: blood groups; ABO; immunohematology. ACCEPTED MANUSCRIPT ACCEPTED MANUSCRIPT 2 Blood groups are of great clinical importance in blood transfusion and in transplantation. Many blood group antibodies have the potential to cause rapid destruction of transfused red cells bearing the corresponding antigen, resulting in either acute or delayed hemolytic transfusion reactions. Routine blood group testing continues to rely upon hemagglutination reactions between antigens and antibodies that are read and interpreted either manually or by automated means. Methods such as flow cytometry and analysis of antigens at the molecular level are often reserved for specialized testing or research. Here we summarize research in red cell immunohematology conducted in China, specifically focusing on ABO and RhD polymorphisms, the development of blood group mimetic peptides for ABO and RhD antigens, and the modification of red blood cell surface antigens. ABO subtypes High genetic diversity has been found in blood group antigens in Chinese persons. In the past three years, more than 30 novel ABO subgroup alleles have been reported [1-5]. Among them, 27 point mutations, five hybrid alleles, and one deletion-mutation allele have been found. In one proband, a nucleotide deletion in the ABO promoter region was discovered and its effect was further investigated using dual-luciferases assays to analyze ABO promoter activity [1]. The para-Bombay phenotype is a clinically relevant ABO subtype found in approximately 0.01% of Chinese persons. In a retrospective study, the 17 reported FUT1 and FUT2 alleles in China were reviewed and summarized [6]. The results pointed out that four FUT1 alleles wereACCEPTED predominant in Chinese paraMANUSCRIPT-Bombay individuals and should be included in relevant genotyping methods. The results of another study suggested that mutations in the FUT1 allele including C35T (Ala12Val) or A682G (Met228Val), found either as a single mutation or combined mutations, might lead to the reduction of the activity of α(1,2)fucosyltransferase [7]. Hyper-methylation of the ABO promoter also might affect the expression of ABO antigens. In one healthy blood donor with the genotype B101/O01, B antigen expression was significantly decreased [8], although no abnormality was found in the coding regions, the adjacent introns, or the regulatory regions of the ABO transcripts. No anti-B was detected in ACCEPTED MANUSCRIPT 3 the serum. However, B glycosyltransferase activity in the serum was decreased, using the method developed by Nagai et al.[9,10] The ABO promoter methylation level in this sample was higher than that found in controls with normal B phenotypes. The authors speculated that ABO promoter hyper-methylation might down-regulate the expression of B antigen. Similarly, in another study focusing on the expression of A and H antigens in patients with malignant hematological diseases, the researchers found that the process of H antigen conversion to A antigen was blocked with ABO promoter CpG island methylation [11]. Thus, CpG methylation within the ABO promoter region might be related to weakened ABO antigen expression in patients or healthy individuals. More detailed epigenetic studies will be necessary before any definite conclusions can be reached. cis-AB is an ABO allele encoding a glycosyltransferase with dual A and B activity, consisting of cis-AB and B(A). Molecular genetic data derived from the RBC gene mutation database (http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home) have revealed that cis-AB and B(A) phenotypes are found in Chinese and Japanese. Sha confirmed 71 cases of cis-AB and B(A) genotype by serological and genomics methods from among 1,716,442 healthy donors[12]. Six known alleles cis-AB01, cis-AB02, cis-AB06, B(A)02, B(A)04, and B(A)06 have been identified in these individuals (Table 1). The prevalence of the cisAB and B(A) phenotype was estimated to be 8.3/100,000 in the Chinese population after correction for the occurrence of alleles that might be overlooked when present in a heterozygous combination with a normal A orACCEPTED B allele. The estimated MANUSCRIPTgene frequency without consideration of the above correction is shown in Table 2. Rh variants From 2007 to 2011, more than 10 novel RHD alleles were found in Chinese persons, mainly in blood donors with weak D or partial D phenotypes [13-14]. Most RhD variants fit the classic genetic definitions of weak D and partial D types. Weak D Type 15 and DVI Type 3 are the most predominant weak D and partial D alleles in the population. However, some rare mechanisms have been reported to result in abnormal RhD antigen expression. For example, a partial D phenotype was found to result from a three basepair deletion of RHD gene, and a ACCEPTED MANUSCRIPT 4 weak D phenotype was reported to result from intronic mutations. However, the molecular mechanisms under these unusual variants remain unclear. DEL, historically D-elute, was first reported in the Japanese population [15] and is the weakest known D positive phenotype in the Rh blood group system. DEL is relatively common in Eastern Asia. In China, about 10–30% of apparently D negative individuals are DEL phenotypes [16-21]. The DEL phenotype derives from several mechanisms, including a splice-site mutation, missense mutation, frame shift mutation, and a long deletion of the RHD gene[16,22-28]. RHD (K409K) is the most frequent DEL allele in mainland China, occurring with a reported frequency of 1:110 [16]. The RHD (K409K) allele consists of a nucleotide change of exon 9 in RHD gene, RHD(1227G>A). Besides the RHD(K409K) allele, other DEL alleles, such as RHD(3G>A), RHD(R10W), RHD(L18P), RHD(L84P) and RHD(A137E) also exist in the Chinese population at low frequencies [18]. The RHD(K409K) is also found in several Chinese minority ethnic groups, such as Uigur and Hui, but the frequency is much lower than that in the Han population [29]. Zhu and colleagues [30] did quantitative analysis to determine the D antigen density of RHD(K409K) DEL in Chinese individuals. They estimated that D expression on DEL erythrocytes was <28 sites per cell. Shao and colleagues [31] determined the D antigen epitopes for DEL phenotype red cells. All detected epitopes (1.2, 2.1, 3.1, 4.1, 5.4, 6.2, 6.6, 8.2, and 9.1) were found in DEL individuals with RHD(K409K) allele. The authors concluded that RHD(K409K) DEL might result from intact but reduced D antigenACCEPTED expression. MANUSCRIPT A central question in research on the DEL phenotype is to determine how to clinically treat individuals with this phenotype. Three groups of investigators [32-34] studied apparently D negative individuals who produced anti-D. The three teams tested 20 individuals (4 healthy blood donors, 15 women who experienced fetal loss, and one patient), 45 pregnant women, and 104 pregnant women, respectively. The individuals who developed anti-D were truly RhD negative or were partial D, such as DVI. None of the detected samples showed the DEL phenotype. Because almost all Chinese examples of DEL are caused by the RHD(K409K) allele, Shao [34] suggested that persons with "Asia type" DEL can safely receive transfusions ACCEPTED MANUSCRIPT 5 from RhD-positive donors. Wang and colleagues [35] obtained different results. They investigated 142 pregnant women with DEL phenotypes, and 6 women were found to develop anti-D with the titer range from 4 to 128. However, each of the 6 DEL samples also contained RHD-CE-D hybrid alleles, and thus were not exclusively the "Asia type" DEL.
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