摘要
目的:总结用高效液相色谱分析法(HPLC)筛查中、重型β地中海贫血(简称地贫)的经验,为临床诊断和治疗提供参考。方法:分析45例HPLC法胎儿血红蛋白F(HbF)明显偏高,结果提示为中间型或重型β地贫患者的地贫筛查和基因诊断结果。结果:45例地贫筛查结果提示为中间型或重型β地贫的患者,有42例基因诊断为中间型或重型β地贫,共有12种基因型;另有3例基因诊断结果为轻型β地贫,其中2例基因型为β41-42/N,另外1例为β17/N。此外,45例患者地贫筛查结果显示,有3种基因型共5例患者的血细胞分析结果出现MCV和MCH高于截断值的情况。结论:HPLC法是筛查中间型和重型β地贫理想的方法,地贫筛查除了使用红细胞参数外,最好也能进行血红蛋白分析。
Objective:To summarize the analysis by HPLC(High-performance liquid chromatography,HPLC)screening heavy β-thalassemia(thalassemia short)experience,to provide a reference for clinical diagnosis and treatment.Methods:45 cases of fetal hemoglobin by HPLC F(HbF)is significantly higher,thalassemia screening and genetic diagnosis results suggest that for the intermediate or heavy β thalassemia patients.Results:45 cases of thalassemia screening results suggestive of intermediate or heavy β thalassemia patients have a genetic diagnosis of 42 cases of intermediate or severe β-thalassemia,a total of 12 genotypes;another three cases of genetic diagnosis for light β-thalassemia,including two cases of genotype β41-42/N,another one case of β17/N.In addition,45 cases of patients with thalassemia screening results showed that there were five cases of three kinds of blood cells in patients with genotype analysis of the emergence of situations MCV and MCH above the cutoff value. Conclusion:HPLC method is a method of screening for intermediate and heavy β thalassemia ideal thalassemia screening in addition to the use of red blood cell parameters,the best hemoglobin analysis can be carried out.
