β-地中海贫血不同基因分型红细胞参数变化及其临床意义

Changes of red blood cell parameters in patients with different genotypes of β-thalassemia and its clinical significance

目的探讨不同基因型β-地中海贫血患者红细胞参数变化及临床意义。方法选择2020年6月至2021年1月信宜市妇幼保健院收治的100例β-地中海贫血患者为研究对象。使用诊断基因试剂盒对β-地中海贫血患者进行基因分型,应用血细胞分析仪对患者的血红蛋白浓度(HGB)、红细胞计数(RBC)、平均红细胞血红蛋白量(MCH)、平均红细胞体积(MCV)、红细胞分布宽度(RDW)、平均红细胞血红蛋白浓度(MCHC)进行检测。比较不同基因型β-地中海贫血患者的HGB、RBC、MCH、MCV、RDW、MCHC水平。结果100例β-地中海贫血患者中有2例β^(E)/β^(N)基因型,均为CD26/N,占2.00%,有40例β^(+)/β^(N)基因型,其中IVS-II-654/N最多,占30%,有58例β^(0)/β^(N)基因型,其中CD41-42/N、CD17/N较多,分别占34.00%、14.00%;β^(+)/β^(N)与β^(0)/β^(N)基因型的HGB、MCH、MCV、MCHC水平分别为(129.38±12.04)g/L、(20.01±1.53)pg、(64.98±4.76)f1、(310.05±8.73)g/L与(128.36±15.42)g/L、(19.21±1.27)pg、(63.86±4.32)f1、(308.63±9.14)g/L,明显低于β^(E)/β^(N)基因型的(137.83±8.12)g/L、(25.06±0.95)pg、(76.57±3.28)f1、(327.92±9.11)g/L,差异均有统计学意义(P<0.05);β^(+)/β^(N)与β^(0)/β^(N)基因型的RBC、RDW分别为(6.43±0.66)×10^(12)/L、(15.48±1.18)%与(6.49±0.90)×10^(12)/L、(17.20±1.22)%,明显高于β^(E)/β^(N)基因型的(5.42±0.44)×10^(12)/L、(13.44±0.51)%,差异均有统计学意义(P<0.05)。结论不同基因型β-地中海贫血患者的红细胞参数水平各不相同,对临床区分β-地中海贫血不同基因分型有参考价值。

Objective To explore the changes and clinical significance of red blood cell parameters in patients with different genotypes ofβ-thalassemia.Methods One hundred patients withβ-thalassemia who were treated in Xinyi Maternal and Child Health Hospital from June 2020 to January 2021 were selected as the research objects.The patients were detected by the diagnostic gene kit for genotype,and the patient's hemoglobin concentration(HGB),red blood cell count(RBC),mean corpuscular hemoglobin(MCH),mean corpuscular volume(MCV),red blood cell distribution width(RDW),and mean corpuscular hemoglobin concentration(MCHC)were detected by a blood cell analyzer.The levels of HGB,RBC,MCH,MCV,RDW,MCHC in patients with different genotypes ofβ-thalassemia were compared.Results Among 100 patients withβ-thalassemia,there were 2 cases of β^(E)/β^(N) genotypes,both of which were CD26/N,accounting for 2.00%;there were 40 cases of β^(+)/β^(N) genotypes,of which IVS-Ⅱ-654/N was the most,accounting for 30.00%;there were 58 cases of β^(0)/β^(N) genotypes,mostly CD41-42/N and CD17/N,accounting for 34.00%and 14.00%.The HGB,MCH,MCV,and MCHC levels of β^(+)/β^(N) and β^(0)/β^(N) genotypes were(129.38±12.04)g/L,(20.01±1.53)pg,(64.98±4.76)f1,(310.05±8.73)g/L and(128.36±15.42)g/L,(19.21±1.27)pg,(63.86±4.32)f1,(308.63±9.14)g/L,significantly lower than(137.83±8.12)g/L,(25.06±0.95)pg,(76.57±3.28)f1,(327.92±9.11)g/L of β^(E)/β^(N) genotype(P<0.05).The RBC,RDW of β^(+)/β^(N) and β^(0)/β^(N) genotypes were(6.43±0.66)×10^(12)/L,(15.48±1.18)%and(6.49±0.90)×10^(12)/L,(17.20±1.22)%,significantly higher than(5.42±0.44)×10^(12)/L,(13.44±0.51)%of β^(E)/β^(N) genotype(P<0.05).Conclusion Patients with different genotypes ofβ-thalassemia have different levels of red blood cell parameters,which is of significant reference value for distinguishing different genotypes ofβ-thalassemia clinically.