CD_(41～42)纯合子伴-α^(3.7)纯合子缺失患儿及其父母的地中海贫血检测结果分析  

Lab reports analysis of a baby with CD_(41～42) homozygote compound-α^(3.7) homozygote and his parents

作　　者：吴智明[1] 朱中元[1] 陈运春[1] 郑春娇[1] 曹晓强[1] 

机构地区：[1]海南省农垦总医院检验科,海南海口570311

出　　处：《海南医学》2014年第23期3481-3483,共3页Hainan Medical Journal

摘　　要：目的进一步了解地中海贫血基本知识,遗传规律及其对社会、家庭的危害。方法对一位CD41~42纯合子伴-α3.7纯合子缺失患儿及其父母亲地中海贫血的实验室相关检测进行分析。结果患儿基因型:α-地中海贫血-α3.7纯合子缺失伴β-地中海贫血CD41~42纯合子突变。父亲基因型:α-地中海贫血-α3.7/αα杂合子缺失伴β-地中海贫血CD41~42突变杂合子;母亲基因型:α-地中海贫血-α3.7/αα杂合子缺失伴β-地中海贫血CD41~42突变杂合子。三者红细胞平均体积(MCV)均变小。结论地中海贫血的卫生教育及宣传工作有待于进一步加强。Objective To illustrate the basic knowledge and genetic laws of thalassemia and its damage to society and family. Methods The lab reports of a baby with CD41~homozygote compound-α^3.7homozygote and his parents were analyzed. Results The genotype of the baby was CD41~42homozygote compound-α^3.7homozygote, and his parents were-α^3.7αα heterozygote compound CD41~42heterozygote. Their mean corpuscular volumes（MCVs） were smaller than that of normal cell. Conclusion Health education and publicity work for thalassemia should be further fortified.

关 键 词：地中海贫血 病例分析 基因型 

分 类 号：R556[医药卫生—血液循环系统疾病]