Abstract：
Here, we report a novel frameshift mutation caused by a single base deletion in exon 3 of the HBA2 gene (HBA2:c.337delC) detected by next-generation sequencing. The proband was a 26-year-old Chinese pregnant woman who originates from Hunan Province. Her mean corpuscular volume(MCV) and mean corpuscular hemoglobin (MCH) had a mild decrease. Capillary electrophoresis (CE) showed that both Hb A (97.8%) and Hb F (0.0%) values were within normal range, while the Hb A2 (2.2%) value was below normal. Sequence analysis of the α and β-globin genes revealed a novel single base deletion at codon 112 (HBA2:c.337delC) in the heterozygous state, which resulted in a mild phenotype of α-thalassemia.
摘要：
这里,我们报道了一种新的移码突变,该突变是由下一代测序检测到的HBA2基因(HBA2:c.337delC)外显子3的单碱基缺失引起的.先证者是一名来自湖南省的26岁中国孕妇。她的平均红细胞体积（MCV）和平均红细胞血红蛋白（MCH）略有下降。毛细管电泳（CE）显示HbA（97.8％）和HbF（0.0％）值均在正常范围内，而HbA2(2.2%)值低于正常水平。α和β-珠蛋白基因的序列分析揭示了杂合状态下密码子112（HBA2：c.337delC）的新的单碱基缺失，导致α-地中海贫血的轻度表型。
