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目的探讨广西地区儿童中间型和重型β地中海贫血(简称地贫)基因型及血液学的不同特点。方法47例β地贫儿童分为中间型(14例)和重型(33例)两组,检测β地贫基因、缺失型α地贫基因、Gγ珠蛋白基因启动子-158(Gγ-158)位点单核苷酸多态性(SNP),并测定外周血Hb、MCV、HbF和HbA2含量。结果中间型组携带nt-28β+地贫基因者7例(50%),复合--SEA缺失型α地贫1者5例(35.7%),6例(42.8%)Gγ-158位点碱基为T。重型组中,6例(18.2%)携带β+地贫基因,2例(6.1%)复合-α3.7缺失型α地贫2者3例(9.1%)携带Gγ-158(T)。中间型、重型组的血液学指标分别为Hb:(75.9±9.7)g/L、(56.4±7.6)g/L;MCV:(68.9±5.9)fl(、65.4±4.1)fl;HbF:(66.9±16.3)%(、56.5±22.7)%;HbA2:(2.4±1.2)%(、2.7±1.6)%。结论广西地区儿童β地贫中间型比重型更多地检出nt-28突变、--SEA缺失型α地贫1及Gγ-158(T)。二者的主要差别在于贫血严重程度,无法从MCV、HbF、HbA2水平区分此两型病人。
Objective To explore the different characteristics of genotypes and hematology in children with intermediate and severe β thalassemia in Guangxi. Methods Forty - seven children with β - thalassemia were divided into two groups: intermediate (14 cases) and severe (33 cases). The levels of β thalassemia gene, deletional α - thalassemia gene and Gγ - Site single nucleotide polymorphism (SNP), and determination of Hb, MCV, HbF and HbA2 levels in peripheral blood. Results In the intermediate group, 7 cases (50%) had nt-28β + thalassemia gene, 5 cases (35.7%) had complex -SEA deletion α-thalassemia, and 6 cases (42.8% The base is T. In the severe group, Gγ-158 (T) was carried in 3 (9.1%) of 6 patients (18.2%) carrying β + thalassemia gene and 2 patients (6.1%) with complex -α3.7 deletion α-thalassemia 2. The hematological indexes of intermediate and severe group were Hb: (75.9 ± 9.7) g / L and (56.4 ± 7.6) g / L respectively; MCV: (68.9 ± 5.9) fl 66.9 ± 16.3)% (, 56.5 ± 22.7)%; HbA2: (2.4 ± 1.2)% (, 2.7 ± 1.6)%. Conclusion The nt-28 mutation, - SEA deletion type α thalassemia 1 and Gγ-158 (T) were detected more frequently in β-thalassemia intermedia in Guangxi. The main difference between the two is the severity of anemia, can not distinguish these two types of patients from MCV, HbF, HbA2 levels.