Article
A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T].
Hemoglobin - 1 Jan 2017
Lin Li, Chen Biyan, Yi Shang, Chen Qiuli, Wei Hongwei, Li Guojian, Zheng Chenguang, Qiu Xiao-Xia, He Sheng
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.