The spectrum of α- and β-thalassemia mutations in Yunnan Province of Southwestern China.

@article{Zhang2012TheSO,
  title={The spectrum of α- and β-thalassemia mutations in Yunnan Province of Southwestern China.},
  author={Jie Zhang and Bao-sheng Zhu and Jing He and Xiao-hong Zeng and Jie Su and Xiang-hu Xu and Su-yun Li and Hong Chen and Ying-hong Zhang},
  journal={Hemoglobin},
  year={2012},
  volume={36 5},
  pages={464-73}
}
The aim of this study was to investigate the spectrum of thalassemia mutations in Yunnan Province, Southwestern China. We detected 450 thalassemia patients and carriers by multiplex gap polymerase chain reaction (gap-PCR), PCR reverse dot-blot hybridization and direct sequencing methods in 535 suspected patients. Four types of α-thalassemia (α-thal) mutations, - -(SEA) (59.2%), -α(3.7) (rightward) (19.0%), Hb Constant Spring [Hb CS, α142, Term→Gln, TAA>CAA (α2), α(CS)α] (15.5%), and -α(4.2… CONTINUE READING
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