β-地中海贫血纯合子一例及其家系分析  

One Case of β-Thalassemia and Her Family Members' Analysis

作　　者：易志勤[1] 南国华[2] 陈松森[3] 

机构地区：[1]江西医学院门诊部,江西南昌330006 [2]江西医学院生化教研室,江西南昌330006 [3]中国医学科学院血红蛋白研究室,北京100005

出　　处：《江西医学院学报》2003年第3期44-45,共2页Acta Academiae Medicinae Jiangxi

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βObjective 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.

关 键 词：贫血 珠蛋白生成障碍性 纯合子 家系分析 贵州 少数民族 儿童 学龄前 

分 类 号：R556.61[医药卫生—血液循环系统疾病] Q754[医药卫生—内科学]