摘要
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 analyze genetic and hematological features of children with β- thalassemia interrnedia and major in Guangxi. Methods 47 children with symptomatic β - thalassemia were divided into intermedia group （14 cases） and major group （33 cases）. β- thalassemia genes, delec- tional α- thalassemia genes and single nucleotide polymorphism （SNP） at position - 158 of ^Gγ- globin gene were detected. Values of Hb, MCV, HbF and HbA2 of patients＇ peripheral blood were determined. Results In interrnedia group, 7 （50%） patients inherited β^＋ - thalassemia mutations （nt- 28）, 5 cases （35.7%） co- inherited - - SEA α- thalassemia - 1 gene, and 6 cases （42.8%） carried ^Gγ-158（T）. In major group, however, only 6 （18.2%）inherited β^＋ - thalassemia mutations, 2 （6.1%） co-inherited -α^3.7 α-thalassemia-2 gene and 3（9.1%） carried ^Gγ-158（T）. The values of Hb, MCV, HbF and HbA2 of intermedia and major group were： （75.9 ± 9.7） g/L vs. （56.4 ± 7.6） g/L, （68.9±5.9） fl vs. （65.4±4.1） fl,（66.9±16.3）% vs. （56.5±22.7）%,and （2.4±1.2）% vs. （2.7 ± 1.6） %, respectively. Conclusions Conclusion Nt - 28 mutation, - - SEA α-thalassemia- 1 gene and ^Gγ-158（T） are mainly presented in patients with β-thalassemia intermedia in Guangxi. The difference of phenotype between β-thalassemia intermedia and major is severity of anemia. Patients with β-thalassemia intermedia can not be distinguished from those with major through levels of MCV, HbF and HbA2.
出处
《中国医师进修杂志》
2006年第3期8-10,共3页
Chinese Journal of Postgraduates of Medicine
