重型β地中海贫血患者突变基因及同种血型抗体频率调查

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目的了解重型β地中海贫血(β-TM)患者同种血型抗体类型与基因突变的频率。方法用PCR-RDB和微柱凝胶法检测定期输血的280名重型β-TM患者基因型和同种抗体类别。以卡方检验分析其基因与同种血型抗体频率,以累计输血量40 U为界值探讨输血量与患者同种抗体产生的关系。结果本组重型β地中海贫血患者中,CD41-42基因型占51.79%(145/280),IVS-2-654基因型占35.36%(99/280);检出同种血型抗体27例、检出率9.64%(27/280),其中Rh血型系统抗体85.19%(23/27)、Kidd 11.11%(3/27)、MNSs U 3.70%(1/27)。输血量<40U的患者产生有临床意义的同种抗体的比例5.90%(8/135),输血量>40 U患者产生同种抗体的比例为13.10%(19/145)(P<0.05)。结论随着输血量的增加,重型β-TM患者产生同种血型抗体的比率相应增加;CD41-42和IVS-2-65基因突变型重型β-TM患者产生同种抗体的几率高,因而这些患者输血应采用Rh表型同型血液,以减少同种抗体的产生频率,为长期配合性输血创造条件。 Objective To understand the type and mutation frequency of alloantibodies in patients with severe β-thalassemia (β-TM). Methods PCR-RDB and microcolumn gel method were used to detect the genotypes and allotypes of 280 heavy beta-TM patients with regular blood transfusion. The chi-square test was used to analyze the frequencies of the genes and antibodies of the same blood group. The cumulative blood transfusion volume of 40 U was used as a cut-off to explore the relationship between blood transfusion and alloantibody production in patients. Results Among the patients with severe β-thalassemia, CD41-42 genotype accounted for 51.79% (145/280), and IVS-2-654 genotype accounted for 35.36% (99/280). The same blood group antibody was detected in 27 cases The rate of outbreak was 9.64% (27/280), including 85.19% (23/27) of Rh blood group system, 11.11% (3/27) of Kidd and 3.70% (1/27) of MNSs U. Patients with blood transfusions <40U had a proportion of 5.90% (8/135) with clinically significant alloantibodies and 13.10% (19/145) of patients with transfusions> 40 U (P <0.05). Conclusions With the increase of blood transfusion, the ratio of producing the same blood group antibody in patients with severe β-TM increases correspondingly. The patients with CD41-42 and IVS-2-65 gene mutation type β-TM have the highest probability of producing alloantibodies, Patients with blood transfusion Rh phenotype should be the same type of blood, in order to reduce the frequency of alloantibodies, to create conditions for long-term with sexual transfusion.
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