Article
The diagnosis and molecular analysis of a novel 27.2 kb deletion causing α0-thalassemia.
Clinical biochemistry - 1 Jun 2023
Wang Ge, Zou Shaomin, Li Jialong, Wang Xingmin, Wu Hongqiu, Tao Zhenzhong, Zhang Qianqian, Xu Xiangmin, Zhou Yuqiu
Abstract excerpt
BACKGROUND: Thalassemia, one of the most prevalent monogenic diseases worldwide, is caused by an imbalance of α-like and non-α-like globin chain production. Copy number variations, which cause the most common genotype of α-thalassemia, can be detected by multiple diagnostic methods. CASE REPORT: The proband was a 31-year-old female who was diagnosed with microcytic hypochromic anemia by antenatal screening....
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