Tang Hai-Shen, Zhou Jian-Ying, Xie Xing-Mei, Li Ru, Liao Can, Li Dong-Zhi
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
Hemoglobin. 2012;36(2):192-5. doi: 10.3109/03630269.2011.643448. Epub 2012 Jan 13.
We report a novel α-thalassemia (α-thal) point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a frameshift mutation at codon 8 (-C) in exon 1 of the α2-globin gene. This mutation causes an α(+)-thal phenotype.
我们报告了在新生儿血红蛋白病筛查期间检测到的一种新型α地中海贫血(α-thal)点突变。序列分析确定在α2-珠蛋白基因第1外显子的第8密码子处存在移码突变(-C)。该突变导致α(+)-thal表型。