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A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]. 2017
Li Lin, and
Biyan Chen, and
Shang Yi, and
Qiuli Chen, and
Hongwei Wei, and
Guojian Li, and
Chenguang Zheng, and
Xiao-Xia Qiu, and
Sheng He
a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , PR China.
We report a novel mutation on the α2-globin gene, Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. Hb Debao was associated with an α+-thalassemia (α+-thal) deletion [-α3.7 (rightward)] producing a mild phenotype with significant microcytosis and hypochromia, while the combination of this mutation with an α0-thal deletion (--SEA) resulting in a severe form of Hb H (β4) disease, which is consistent with a thalassemic phenotype associated with the novel mutation.
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