BACKGROUND:The D antigen is the most clinically important antigen in the Rh system due to its high immunogenicity and being the main cause of hemolytic disease of the foetus and newborns (HDFN). High polymorphism of the RHD gene implicates that new RHD variant alleles may be regularly identified. STUDY DESIGN AND METHODS:D antigen status was examined using saline tubes with IgM anti-D (clone RUM-1). If a negative result was observed, indirect antiglobulin test (IAT) and adsorption-elution test were performed with four monoclonal anti-D reagents. A D-screen identification kit was used for partial D identification. All 10 exons of the RHD gene plus flanking intronic regions were amplified and sequenced. RESULTS:The serological investigation showed clearly negative results with all anti-D reagents used when testing against both probands RBCs. The sequencing results of probands revealed c.802-1G>C mutation in proband 1 and c.1154-2A>T mutation in proband 2. These mutations resulted in the change of 3' splice site in the intron-exon junction of intron 5 or intron 8 of the RHD gene from AG to AC or TG, abolishing the splicing effect. CONCLUSIONS:We identified two novel splicing variants resulting from c.802-1G>C and c.1154-2A>T mutations in the RHD gene. Both mutations may abolish the splicing effect of the involved exons, leading to the D-negative phenotype.

A 20-year-old pregnant woman at 12 week gestation with a history of thalassemia was admitted to the hospital with Hb 60g/L. She received two transfusions of 2 units of negative crossmatched washed red blood cells (RBCs) each, but shortly after she experienced a transfusion reaction. Symptoms included chest tightness, dyspnea, chills, and soy sauce colored urine. A post-transfusion specimen was sent to the blood type reference laboratory (BTRL) for investigation, which revealed the presence of anti-Lea and anti-Leb antibodies causing the immediate acute hemolytic transfusion reaction; interestingly, the patient's Lea antibody was found to be IgM, while the Leb antibody was both IgM and IgG. This combination of antibodies is rare and highlights the potential for clinically insignificant Lewis cold antibodies to cause serious reactions. It is important to not overlook these antibodies and to select antigen-negative units rather than relying solely on blood crossmatching. The use of polybrene in crossmatching blood tests may have limitations in the presence of Lewis antibodies, so alternative methods should be considered in difficult cases to ensure safe and effective transfusions. This case emphasizes the need for thorough testing and careful selection of blood products to reduce the risk of transfusion reactions and improve overall transfusion safety.

OBJECTIVE:To investigate the role of multiple serological methods in the identification of complex antibodies.METHODS:The blood group antigens were detected by saline and microcolumn agglutination methods. The saline method was used to screen and identify IgM-type antibodies in the patient's serum, while the polybrene, anti-globulin, microcolumn agglutination, enzymic and absorption-elution methods were used to screen and identify IgG-type antibodies.RESULTS:The patient was B/CCDee/Jk(a-b+)/Fy(a-b+) blood type. The serum reacted with panel cells, and the reaction presented anti-E pattern in the saline medium. It was fully positive in the microcolumn agglutination card, except 2 negative ones after using papain to treat the panel cells. Referring to the pattern table, it was concluded that there existed anti-c, anti-E, and anti-Jka antibodies, and one antibody corresponding to an antigen that was easily destroyed by papain. The red blood cells with specific phenotype were selected for absorption-elution to identify IgG-type anti-c, anti-E, anti-Jka and anti-Fya antibodies.CONCLUSION:It is confirmed that IgM-type anti-E, and IgG-type anti-c, anti-E, anti-Jka and anti-Fya antibodies exist in the patient's serum by multiple serological methods.

TransfusionEarly View ONE-PAGE REPORT OF NEW ALLELES OR ANTIGENS Identification of a novel FUT1 allele with c.325_414dup in a Chinese individual with para-Bombay phenotype Jinlian Liu, Jinlian Liu orcid.org/0000-0002-3189-4866 Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorLilan Li, Lilan Li orcid.org/0000-0002-0852-3661 Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorGuoguang Wu, Corresponding Author Guoguang Wu [email protected] Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, China Correspondence Guoguang Wu, Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning 530007, Guangxi, China. Email: [email protected]Search for more papers by this authorTingting Ma, Tingting Ma Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorXuejun Liu, Xuejun Liu Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorBaojia Huang, Baojia Huang Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorJierun Chen, Jierun Chen Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorYan Zhou, Yan Zhou Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this author Jinlian Liu, Jinlian Liu orcid.org/0000-0002-3189-4866 Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorLilan Li, Lilan Li orcid.org/0000-0002-0852-3661 Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorGuoguang Wu, Corresponding Author Guoguang Wu [email protected] Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, China Correspondence Guoguang Wu, Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning 530007, Guangxi, China. Email: [email protected]Search for more papers by this authorTingting Ma, Tingting Ma Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorXuejun Liu, Xuejun Liu Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorBaojia Huang, Baojia Huang Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorJierun Chen, Jierun Chen Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this authorYan Zhou, Yan Zhou Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, Guangxi, ChinaSearch for more papers by this author First published: 15 June 2023 https://doi.org/10.1111/trf.17452Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Race RR, Ruth S. Blood groups in man. 6th ed. Oxford: Blackwell Scientific Publications; 1975. p. 22–7. 2Liu JL, Liu XJ, Ma TT, et al. Serological identification and FUT1 gene mutation analysis of 8 individuals with Para-Bombay phenotypes in Guangxi. Chin J Exp Hematol. 2021; 152(4): 1318–24. 3Kelly RJ, Emst LK, Larsen RD, et al. Molecular basis for H blood group deficiency in Bombay(oh)and Para-Bombay individuals. Proc Natl Acad Sci U S A. 1994; 91(13): 5843–7. 4 International Society of Blood Transfusion(ISBT). Names for H (ISBT 018) blood group alleles. https://www.isbtweb.org/resource/018h.html 2023-03-31/2023-05-05. Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation

Electronic crossmatching (ECM) may be the future development trend of blood transfusion. This technology has been widely used abroad in some developed countries or regions for many years, but it has not yet been widely used in China except Hong Kong. This article intends to elaborate on current application status of ECM at home and abroad, the advantages and disadvantages of ECM compared with traditional serological crossmatching, as well as problems and solutions faced in domestic development of this technology, aiming to provide reference for development of ECM technology in China.

目的 探讨电子交叉配血技术在红细胞不规则抗体阳性患者交叉配血中的应用.方法 收集2020年1月至2021年4月南宁市各医院送检的抗体筛查阳性和(或)交叉配血不相合的137例患者的137份血液标本,应用盐水法进行ABO、Rh血型和其他血型系统红细胞抗原检测,应用盐水法、聚凝胺法、抗球蛋白法、微柱凝胶卡法、酶法、吸收放散法等检测和鉴定红细胞不规则抗体并分析其特异性,以实验室建立的红细胞血型抗原/抗原基因型已知献血者数据库为基础,对红细胞血型抗原及不规则抗体特异性明确的患者实施电子交叉配血,采用血型血清学交叉配血进行验证.结果 137份标本抗体特异性涉及Rh、MNS、Lewis、Kidd和Duffy等5个血型系统,Rh系统抗体占比(56.93％)最高,其次为MNS系统抗体(18.25％).137份标本采用电子交叉配血结果与血型血清学交叉配血验证结果一致,未发生血型不合的输血反应.结论 电子交叉配血技术有助于为红细胞不规则抗体阳性患者快速和准确地找到相配合的血液,有望为输血的安全有效提供保障.

目的 调查研究南宁地区无偿献血人群ABO亚型的分布特点及分子遗传学特征.方法 收集2017年3月至2018年12月南宁地区无偿献血者血液样本,采用试管法对微板法筛查出的正反定型不一致的样本进一步做血型血清学分析,并进行亚型确认.对亚型样本进行基因克隆测序,测序结果用软件比对分析后,确定其基因型.结果 从2017年3月至2018年12月南宁地区无偿献血者225587例血液样本中检出ABO亚型41例,其中A亚型6例、B亚型25例、AB亚型10例.对41例ABO亚型样本进行克隆测序分析,共检测出3个常见O等位基因(O01、O04、O13);3个常见A等位基因(A101、A102、Ael08)以及一个新的A等位基因;4个常见B等位基因(B101、B108、B305、Bw11)以及一个新的B等位基因.结论 ABO亚型分布存在不均衡性和地域性差异.南宁地区献血人群B亚型出现的频率高于A亚型,最常见的亚型是A102和Bw11.

OBJECTIVE:To study the serological characteristics and molecular biological basis of 8 individuals with Para-Bombay phenotypes in Guangxi area.METHODS:Serological tests were used to identify the blood groups of red cells. Molecular biological methods, including PCR-SSP for ABO genotyping and DNA sequencing for FUT1, were used to detect the genotypes of ABO and FUT1 which determined the expression of H antigen.RESULTS:Eight individuals in the study were all the Para-Bombay phenotypes, including 4 cases of Bmh and 4 cases of Amh. The DNA sequencing for FUT1 showed that 6 cases were h3h3 [c.658C>T (p.Arg220Cys) homozygous mutation], 1 was h832h832 [c.832G>A (p.Asp278Asn) homozygous mutation], and 1 was h328h3 [compound heterozygous mutations of c.328G>A (p.Ala110Thr) and c.658C>T (p.Arg220Cys)].CONCLUSION:There are varieties of molecular genetic mechanisms for Para-Bombay phenotypes. In this study, the FUT1 mutations that cause Para-Bombay phenotypes in Guangxi area are mainly h3, h328, and h832, among which h3 is the most common mutant.

目的 调查广西地区壮族人群17个STR基因座遗传多态性,为法医物证鉴定和群体遗传研究提供基础数据.方法 收集2624份广西地区壮族人群无关个体样本采用Chelex-100提取样本DNA,用PowerPlex(R) 18D System试剂盒进行PCR扩增及检测,计算群体遗传学参数.结果 17个常染色体STR基因型分布均符合Hardy-Weinberg平衡定律(P＞0.05),共检测出235个等位基因,971种基因型,累积个体识别率(TDP)为0.999 999 999 999 999,累积非父排除率(CPE)为0.999 999 772.结论 17个STR基因座在广西地区壮族人群中具有较好的遗传多态性,可以用于法医学中个体识别和亲权鉴定,也可用于群体遗传学及法医学研究.

TransfusionVolume 60, Issue 8 p. E28-E29 REPORT OF NEW ALLELES OR ANTIGENS Identification of a novel A allele with a missense mutation (c.737A>G) in a Chinese individual with a weak A phenotype Baoren He, Corresponding Author hebr2001@sina.com orcid.org/0000-0001-6377-1919 Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning, ChinaAddress reprint requests to: Baoren He, Nanning Blood Center, No. 18 Keyuan Ave, Nanning, Guangxi 530007 China; e-mail: hebr2001@sina.com.Search for more papers by this authorBin Li, Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning, ChinaSearch for more papers by this authorJinlian Liu, Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning, ChinaSearch for more papers by this authorXuejun Liu, Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning, ChinaSearch for more papers by this author Baoren He, Corresponding Author hebr2001@sina.com orcid.org/0000-0001-6377-1919 Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning, ChinaAddress reprint requests to: Baoren He, Nanning Blood Center, No. 18 Keyuan Ave, Nanning, Guangxi 530007 China; e-mail: hebr2001@sina.com.Search for more papers by this authorBin Li, Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning, ChinaSearch for more papers by this authorJinlian Liu, Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning, ChinaSearch for more papers by this authorXuejun Liu, Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning, ChinaSearch for more papers by this author First published: 24 June 2020 https://doi.org/10.1111/trf.15929Citations: 1 This work was supported by the Nanning Scientific Research and Technology Development Project of Nanning Science and Technology Bureau (20173157-8). Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume60, Issue8August 2020Pages E28-E29 RelatedInformation

目的 对南宁地区疑难输血患者中红细胞不规则抗体检出情况进行分析,以了解本地区患者红细胞不规.则抗体的发生情况.方法 对2008-2018年间南宁市各医院送检的疑难配血案例标本1 463例,应用盐水法、凝聚胺法、抗球蛋白法、微柱凝集法、酶法、吸收放散法检测红细胞不规则抗体.结果 共鉴定确认红细胞不规则抗体335例,发生率为22.90％(335/1463).主要涉及6个血型系统:Rh系统55.52％ (186/335),Kidd系统2.69％(9/335),MNS系统18.21％(61/335),Lewis系统4.48％ (15/335),P系统5.07％(17/335),Rh合并Lewis系统0.30％(1/335),Rh合并P系统0.60％ (2/335),Rh合并MNS系统5.97％ (20/335),Rh合并Kidd系统5.67％ (19/335),Rh、MNS合并Kidd系统1.19％(4/335),Rh、Kidd合并Duffy系统0.30％ (1/335).结论 从南宁地区疑难输血患者红细胞不规则抗体检出情况分布看,以Rh和MNS血型系统为主,以Rh合并MNS血型系统的不规则抗体比率最高,尤其是Rh系统和抗-Mur同时存在多见.

目的:初步分析广西壮族白血病与人类白细胞抗原(HLA)高分辨基因的相关性.方法:采用聚合酶链反应直接测序法(PCR-SBT)对广西壮族66例白血病患者(白血病组)进行HLA-A、B、C、DRB1和DQB1基因分型,使用Arlequin软件(3.5.2.2)计算HLA等位基因频率和单倍型频率,并与350例广西壮族健康人(对照组)比较.结果:白血病组HLA-A?24:03(2.27％)、B?46:01(21.21％)、C?14:02(8.33％)、DRB1?12:02(13.64％)和DQB1?03:01(22.73％)的基因频率均高于相应的对照组(P<0.05),而白血病组DQB1?05:02(25.76％)的基因频率低于对照组(P<0.05).两组最常见的三位点和五位点单倍型一致,分别是A?33:03-B?58:01-DRB1?03:01和A?33:03-B?58:01-C?03:02-DRB1?03:01-DQB1?02:01.结论:HLA-A、B、C、DRB1和DQB1高分辨基因和单倍型的频率,在广西壮族白血病患者与广西壮族健康人群中基本一致,其中HLA-A?24:03、HLA-B?46:01、HLA-C?14:02、HLA-DRB1?12:02和HLA-DQB1?03:01可能是广西壮族白血病的易感基因,HLA-DQB1?05:02可能是其保护性基因.

本所在采用短串联重复序列(STR)基因分型技术对一对父子进行亲子鉴定分析发现,争议父与子的9个遗传位点不符合孟德尔遗传规律,排除亲生血缘关系.同时发现,争议父的STR分型图上性别基因座分型异常,经细胞染色体核型分析证实,争议父为克氏综合征患者.

OBJECTIVE:To analyse the cases of platelet transfusion refractoriness after received HLA-matched unrelated donor hematopoietic stem cell transplantation, to analyze and identify the phenotype and genotype of CD36 in both the patient and stem cell donor, as well as the characteristic of antibody induced platelet transfusion refractoriness, and to analyse the efficacy of matched CD36-deficiency platelets transfusions.METHODS:The CD36 expression on platelet and monocyte was analyzed by flow cytometry (FCM) in both patient and donor. Polymerase chain reaction sequence-based typing (PCR-SBT) was used to analyze the exons sequence of CD36 and HPA. Fast monoclonal antibody-specific immobilization of platelet antigen (F-MAIPA) and FCM were used to identify platelet antibodies in the patient. Short tandem repeat polymerase chain reaction (STR-PCR) was applied to monitor engraftment evidence. The platelet level was monitored. CD36- deficiency donor's platelets were selected from CD36- deficiency donor blood bank.RESULTS:The donor was CD36 positive and the patient was typed I CD36 deficiency. The anti-CD36 antibody was identified in patient's serum (after transplantation), while the HLA and HPA-related antibodies were excluded. Sequence analysis of CD36 exon in the patient showed Exon 6 -1G>C(Change in splicing site) homozygote, which was a novel CD36 mutation. STR, HPA and CD36 of the patient (complete chimerism) were conversed to that of donor gene types on day 18 after allo-HSCT. The positive CD36 expression on platelet and monocyte in the patient was observed on day 96 after allo-HSCT. The patient showed the platelet transfusion refractoriness which was significantly improved after platelets transfusions from CD36 deficiency donors.CONCLUSION:Stem cell transplants resulted in anti-CD36 and caused platelet transfusion refractoriness, that was first reported in China. To ensure the efficacy of platelet transfusion, the CD36-deficiency patient should receive CD36 deficiency platelets for transfusion.

Objective To observe and analyze the mutation characteristics of 17 STR loci among the paternity test cases in Guangxi area .Methods Among 1 786 cases of "non—exclusion" parentage ,1 430 cases were parental triplet and 356 cases were uniparental diad ,1 001 persons were Han people ,2 102 persons were Zhuang people and 113 persons were other ethnic group in the parents .The genome DNA was extracted by Chelex-100 method .17 short tandem repeat (STR) loci were detected by Power Plex ? 18D System Kit .The paternity testing containing mutant STR loci were screened out from 1786 cases .The locus-specific ,specificity of paternal and maternal ,and allele-specific mutation rates were observed and analyzed ,respectively .The characteristics of the muta-tions were studied .Results In total ,75 mutations events were observed at 16 of the 17 loci .Among them ,73 (97 .34% ) times were one step mutation ,onece(1 .33% ) was two—step mutation ,and once(1 .33% ) was three—step mutation ,no mutation was found at the TPOX locus .The mutation rates ranged 0 .031 1% —0 .404 2% ,and the mean mutation rate was 0 .145 8% .The proportion of the paternal mutations and the maternal mutations was 5 .4:1 .0 ,the difference had statistical significance(P<0 .01) .and the mu-tation difference between Han people and Zhuang people had no statistical significance(P>0 .05) .Conclusion STR loci mutation is common phenomenon in paternity test .The data of STR loci mutations should be constantly accumulated for selecting the genetic characteristics in line with the Guangxi population and the genetic markers of STR loci with high identification ability to ensure ac-curate and reliable identification results .

Objective To investigate the distribution situation of ABO and Rh blood groups among Zhuang population in Nanning area to guide the scientific voluntary blood donor recruitment and rational storage of blood in this area.Methods 2 052 blood samples from Zhuang population in Nanning area were performed the identification of ABO and Rh blood groups.Whether the gene distributions conforming to the Hardy-Weinberg equilibrium principle was assessed by using the Chi-square test.The data was compared with the distribution characteristics in other areas or other minorities.Results The distribution characteristics of ABO blood groups in Nanning area were O > B> A > AB.Blood group O was highest (46.78%)and blood group AB was lowest (4.34%).The gene frequencies of A,B and O were 0.131 9,0.181 5 and 0.686 6,respectively.The blood groups distribution con-formed to the Hardy-Weinberg equilibrium principle;the RhD positive proportion(RhD+ )in Zhuang population was 99.90%,while the RhD negative (RhD- )proportion was 0.10%,which was lower than that in Han population.No phenotypes of ccdE,CcdE, CCdee,CCdE,CCDEE and ccDee were observed in this study.Conclusion The distribution of the ABO and Rh blood groups among Zhuang population in Nanning still maintains their own exclusive characteristics.The extremely low proportion of RhD- will bring about serious difficulties to the patients with long term blood transfusion.

Objective To explore the allele frequency and population genetics parameters of the 17 short tandem repeat(STR) loci in Nanning Zhuang population .Methods PowerPlex ? 18D System and ABI3130 genetic analyzer were used to analyze the DNA polymorphism of the blood samples collected from 596 individuals of Nanning Zhuang population.Results The genotype distribution of the 17 STR loci,which was analyzed by χ2 test,accorded with Hardy-Weinberg equilibrium in Nanning Zhuang population .The power of discrimination ranged from 0.781 0 to 0.977 7,the triple probability of paternity exclusion ranged from 0.297 8 to 0.783 8,the loci matching probability ranged from 0.022 3 to 0.219 0,the polymorphism information content ranged from 0.540 1 to 0.879 1,the total probability of discrimination power of the 17 STR loci was greater than 0.999 999 999 999.Conclusion PowerPlex ?18D System has a higher application value in the individual discrimination identification and paternity test of Nanning Zhuang population .

Objective To determine the gene distribution frequency of human platelet antigen (HPA)-2 of Guangxi Zhuang Autonomous Region,so as to guide treatment decisions concerning platelet(PLT) transfusion. Methods The polymerase chain single nucleotide polymorphism was adopted to determine the genetic typing of HPA-2 among 2 659 health adults in Guangxi Zhuang Autonomous Region,and the direct sequencing was employed to resolve the genetic difference of HPA-2. Results Allele frequencies of HPA-2a/2a,HPA-2a/2b and HPA-2b/2b were 0.915 7,0.082 4 and 0.001 9,respectively. The detected gene poly-morphism site was completely identical to the information in database ,and no new single nucleotide polymorphism (SNP) site was discov ered. The degree of heterozygosis of HPA-2a/2b of Zhuang nationality was similar to the research results of most Asian counties,but compared with the African,the difference was significant. Conclusion This study contributes to determine the polymorphism distribution of HPA-2 in Guangxi and its potential clinical significance ,and it is beneficial to understand and treat immune-mediated PLA disease of Zhuang nationality.

Objective To study molecular biology of the FUT1 gene mutation.Methods The RBC blood group of proband and his family members was detected by serological and genotyping methods,the FUT1 gene was amplified by polymerase chain reaction(PCR) and sequenced,and aligned the results to the reference sequences(GeneBank:Z69587).Results The sequencing results showed a homozygous mutation of C658T of the FUT1 gene in the proband,heterozygous mutation in his parents,older sister and son,and no mutation in his wife and younger sister,respectively.Conclusion The C658T mutation of FUT1 gene is one of the causes of H antigen deficiency.