摘要
目的 检测 1例地中海贫血患儿及其家系的血红蛋白中珠蛋白链和HbA2 ,并区分其所属地中海贫血类型。方法 采用高效液相层析法检测 β 地中海贫血患儿及其家系的珠蛋白链 ;用微型DE 5 2柱层析方法检测家系的HbA2。结果 患儿缺乏 β 珠蛋白链并检出AγT变异体 ;其父母的HbA2高于正常人。 结论 该患儿为 β 地中海贫血纯合子 ,其父母为β
Objective To detect the globin chains and HbA2 in hemoglobin of one β° thalassemia patient and her family members.Methods The globin chains and HbA2 were detect with the reversed phase high performance liquid chromatograthy and DE 52 chromatography.Results No βglobin chain was discovered in the patient,while the AγTchain was discovered; the HbA2 in her parents were higher than normal.Conclusion The patient is a β thalassemia homozygote (β°) ;her parents are β thalassemia heterozygous.
出处
《江西医学院学报》
2003年第3期44-45,共2页
Acta Academiae Medicinae Jiangxi