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OBJECTIVE@#To study the serological, molecular and genetic characteristics of an individual with para-Bombay blood group.@*METHODS@#Serological method was used to detect the presence of A, B, H antigens in red blood cells and saliva, and Sanger sequencing was used to analyze the FUT1 gene of the proband and her family members. Genetic mechanism of the blood group was analyzed by pedigree analysis.@*RESULTS@#Forward and reverse typing of the ABO blood group were inconsistent for the proband. A, B and H antigens were not found on erythrocytes, while B and H antigens were found in saliva, in addition with unexpected antibodies. The proband was found to have a genotype of ABO*B.01/ABO*O.01.04 caused by homozygous variant of c.948C>A (p.Tyr316Ter) of the FUT1 gene.@*CONCLUSION@#A novel para-Bombay blood group was identified, which was due to the missense variant of c.948C>A in the coding region of the FUT1 gene, which has probably resulted in inability to synthesis active H antigen transferase.
Subject(s)
Female , Humans , ABO Blood-Group System/genetics , Alleles , Fucosyltransferases/genetics , Genotype , Homozygote , PhenotypeABSTRACT
【Objective】 To study the serological and genetic characteristics of a case of B(A) blood group. 【Methods】 Serological and genetic ABO blood group typing were used to analyze the ABO subtype and family inheritance of the probands and her 8 family members. The B(A) blood type sample was used as the blood recipient, and the B-type and O-type donors were selected for cross-matching using microcolumn gel anti-human globulin method to evaluate the blood transfusion strategy. 【Results】 5 out of 9 family blood samples were B(A) phenotype, carrying B(A)04 allele. Among them, 1 was B(A)04/O1 type, and 4 were B(A)04/B type. The primary blood matching of B(A) blood type samples with type B and O recipients were all negative. 【Conclusion】 A total of 5 cases of B(A)04 blood type were found in this family investigation, and there were differences in serological manifestations. Washed RBCs with B and O type can be used for B(A) blood type transfusion, and type B suspended RBCs can be considered in case of emergency.
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【Objective】 To investigate the impact of ABO blood group compatibility and incompatibility(major /minor/bidirectional incompatibility) on the outcomes of patients underwent allogeneic hematopoietic stem cell transplantation(allo-HSCT), and to provide evidences for optimizing the transplantation program. 【Methods】 From January 2014 to June 2018, we retrospectively reviewed the clinical courses of 18 recipients of allo-HSCT from ABO-compatible donors and 52 from ABO-incompatible donors at our hospital. The implantation time of granulocyte/erythrocyte/megakaryoblast, RBC/platelet transfusions within 3 months posttransplantation, the initiating and completion time of ABO blood group conversion(for ABO-compatible donors only) were analyzed and compared among the ABO-incompatible and ABO-compatible donors as such variables including demographic data, donor and patient relationship, diagnosis of disease, bone marrow hematopoietic function prior to transplantation, HLA matching were not significant different. 【Results】 For 18 recipients of allo-HSCT from ABO-compatible donors, the implantation time of granulocyte, erythrocyte, megakaryoblast was 12.0(11.0~16.3), 41.5 (35.0~49.0) and 19.0(16.0~22.5)days, respectively. For 52 recipients of allo-HSCT from ABO-incompatible donors, the ABO blood group conversion was initiated at 28.0(22.5~44.0)days posttransplantation and completed at 105.5(85.0~141.8)days. In the ABO-compatible group, the time of erythrocyte implantation was shortened(P0.05), no significant difference was observed between these two variables. The blood group conversion time, implantation time of granulocyte/erythrocyte/megakaryoblast, and RBC /platelet transfusions among ABO major, minor and bidirectional incompatible groups were not significant different (P>0.05). 【Conclusion】 ABO-compatiblity enjoys priority in allo-HSCT. ABO-incompatiblity can be chosen in the order of minor, major and bidirectional incompatibility in the absence of ABO-compatiblity.
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Objective To investigate the value of anti-HI antibody screening and identification in clinical blood transfusion . Methods 4 cases of anti-HI antibody positive in our hospital from February 2016 to November were selected as the research subjects .The irregular antibodies screening and identification were performed by adopting the anti-human globulin and saline test tube method ,then the blood transfusion effect was evaluated .Results Four cases were ABO blood group ,in which 2 cases were group A RhD positive and 2 cases were group AB RhD positive .The screening results of anti-human globulin method were weak positive , while which of saline test tube method were positive .Under the saline medium condition ,the reaction results of serum with 16 spectrum cellular reaction in 4 cases were positive ,while which with autoerythrocytes were negative ;under the anti-human globulin medium condition ,the reaction results of serum with 16 spectrum cellular reaction in 4 cases were negative except 1 case of weak positive ,while which with autoerythrocytes were negative .After blood transfusion in 2 cases of treatment blood use ,Hb increase reached the expected effect without blood transfusion adverse reactions occurrence .Conclusion In blood transfusion for the patients with anti-HI antibody positive ,the blood of same type ABO and compatible results in both saline test tube method and anti-human globulin tests should be selected .
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Objective To analysis the related influencing factors and explore the approach of improving the effect of platelet transfusion through compared the posttransfusion effect of matched-type with random platelet transfusion.Methods Analysis the results of platelet antibody screening test and matched-type test in our hospital′s inpatients during July 2013 to June 2014,who applied for platelet transfusion.The influence of sex,blood transfusion history,pregnant history on the antibody were analyzed.The factors of sex,times of blood transfusion,pregnant times,platelet component sorts,storage time,combined with other components,platelet antibody (positive or negative) and transfusion matched-type platelet on the effect of platelet transfusion were analyzed.Application in our clinical blood transfusion intelligent management and evaluation system to evaluate the effect of platelet transfusion.Results Totally 812 patients′ platelet antibody were screened.Then we randomly selected 87 antibody positive inpatients were selected and 1 247 U plateletswere transfused,which including matched-type platelet transfusion for antibody screening positive patients,random platelet transfusion for antibody screening positive patients,random platelet transfusion for antibody screening negative patients,there were statistical difference (P<0.05).With Logistics regresion analysis,the history of blood transfusion was an independent risk factor for platelet antibody production (P<0.05,OR=13.104,95%CI:7.784-22.061).Sex (P<0.05,OR=1.629,95%CI:1.236-2.148),transfusion times,different platelet component sorts (leukocyte-reduced platelets aphaeresis and irradiation leukocyte-reduced platelets aphaeresis),different storage time,transfusion combined with other components (RBC)(P<0.05,OR=2.464,95%CI:1.053-5.765),transfusion matched-type platelet(P<0.05,OR=0.576,95%CI:0.389-0.854) were the risk factors for platelet transfusion.Conclusion Matched-type test should be done to improve efficiency when the platelet antibody screening were positive.Sex,times of blood transfusion,platelet component sorts,storage time,combine with other components,transfusion matched-type platelet couldinfluence the effect of platelet transfusion.