地中海贫血诊断及基因分型.pdfVIP

2011 1 27 2 O ccup andH ealth Vol. 27 No. 2 Jan 2011 227 地中海贫血诊断与基因分型 D iagnosis and Genotyp ing of Thalassem ia 刘春利 LI U Chun-li (THAC) (MCV ) (MCH )H bA2, THAC , ; , , , , 1/ , 地中海贫血; 基因芯片技术; 筛查 : R556. 9 : B : 100 - 1257( 2011) 02- 0227- 02 Subject D iagnosis and Genotyp ing of Thalassem ia A uthor LI U Chun-li (D ep artment of Laboratory, the Second P eop lesH osp ital of Qinzhou City, uangxi, 535000, Ch ina) A bstrac t In China, thalassem ia ( THAC) occurs most frequently in H ainan, and coastal areas ofGuandong and Guangxi. Thalas- sem ia can be d iagnosed by erythrocyte frag ility test, detection ofMCV and MCH, H bA2 electrophoresis determ ination and gene chip technology. The severe thalassem ia can cause the stillbirth and fetal death, and be harm fu l to health pregnant wom en. The severe thalassem ia is presented as a severe hem olytic anem ia and hepatosp lenom egaly, and patien ts often died before adulthood. The thalassem ia heterozygote has sligh t clin ical symptom s or no symptom at al.l W hen coup le both carries th is type of thalassem ia, the possibility of their infant w ith severe thalassem ia is 25% , so it is very mi portant to mi plem ent the screen ing and d iagnosis of thalasse- m ia in high incidence the areas. K ey w ord s Thalassem ia; Gene ch ip technology; Screening (THAC), , 2 , 2. 1 H b 60 g/L, , , , , , , , 1/ , H bF 30% [ 1] ~ 90% HbA 0H bF 10% ~ 90% , : (PCR) / 0 ~ ( ASO) 0. 3; [ 3]