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

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.