不同基因型轻型β-地中海贫血患者血液学特征

Analysis of hematological characteristics of patient with different genotypes in light β-thalassemia

目的探讨轻型β-地中海贫血患者的血液学特征,快速鉴别不同突变基因型。方法以646例轻型β-地中海贫血患者为研究对象,系统分析红细胞计数(RBC)、血红蛋白浓度(Hb)、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)、平均红细胞血红蛋白浓度(MCHC)、红细胞分布宽度变异系数(RDW-CV)、血红蛋白A2(HbA2)等血液学参数,并对比β0/βN和β+/βN突变型间的区别。结果轻型β-地中海贫血患者主要表现为小细胞、低色素。646例患者最常见基因型依次为β654/βN(33%)、β41-42/βN(32.5%)、β17/βN(14.4%)、β-28/βN(10%),β0/βN突变型占比较高。对比分析发现,除Hb、MCHC外,组间RBC、MCV、MCH、RDW-CV、HbA2差异均有统计学意义。与β+/βN患者相比,β0/βN患者的MCV、MCH明显降低,RDW-CV、HbA2明显升高。结论不同基因型的轻型β-地中海贫血拥有各自独特的血液学特征,可以通过血液学分析快速有效鉴别提高临床工作效率。

Objective To investigate the hematological characteristics of patients with light β-thalassae-mia and rapidly identify different mutational genotypes. Methods RBC、Hb、MCV、MCH、MCHC、RDW-CV and HbA2 were studied in the 646 patients,the differences between β^（0）/β^（N）and β^（＋）/β^（N）mutations were also compared.Results Most of them were microcytic hypochromic anemia. The most common genotype were β^（654）/β^（N）（33%）、β^（41-42）/β^（N）（32.5%）、β^（17）/β^（N）（14.4%）、β^（^（-28）/β^（N）（10%）respectively,β^（0）/βNwere relatively higher. The differences in RBC、MCV、MCH、RDW-CV and HbA2 were significant between β^（0）/β^（N）and β^（＋）/β^（N）. Compared with β^（＋）/β^（N）patients,theMCV and MCH of β^（0）/β^（N）were significantly reduced,RDW-CV and HbA2 were significantly higher. Conclusion Light β~（-thalassaemia with different genotypes has its own unique hematological features and can be quickly and ef-fectively identified. Clinical efficiency can be improved through hematological analysis.