Article
[Analysis of the phenotype-genotype relationship of Hb Constant Spring].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2010
Sun Man-na, Xiong Fu, Zhang Xin-hua, Lou Ji-wu, Xu Xiang-min
Abstract excerpt
OBJECTIVE: To analyze the genotype-phenotype correlations in the Hb Constant Spring (HbCS) carriers, and to investigate the effect of HbCS on hematologic parameters. METHODS: Complete blood cell count and hemoglobin electrophoresis analyses were performed in 125 HbCS cases. The α-and β-thalassemia mutations were determined by reverse dot-blotting and Gap-PCR. RESULTS: The presence of the SEA deletion or Hb Quong...
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