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Hemoglobin
international journal for hemoglobin research
Volume 38, 2014 - Issue 3
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Research Article

Novel Point Mutation of the α2-Globin Gene (HBA2) and a Rare 2.4 kb Deletion of the α1-Globin Gene (HBA1), Identified in Two Chinese Patients with Hb H Disease

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Pages 213-215 | Received 05 Oct 2013, Accepted 19 Oct 2013, Published online: 14 May 2014

References

  • Chan AY, So CC, Ma ES, Chan LC. A laboratory strategy for genotyping Haemoglobin H disease in the Chinese. J Clin Pathol. 2007;60(8):931–934
  • So CC, So AC, Chan AY, et al. Detection and characterization of β-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification. J Clin Pathol. 2009;62(12):1107–1111
  • Lin M, Wu JR, Huang Y, et al. Clinical and molecular characterization of a rare 2.4 kb deletion causing α+ thalassemia in a Chinese family. Blood Cells Mol Dis. 2012;49(2):83–84
  • Zhao JB, Zhao L, Fei YJ, et al. A novel α-thalassemia-2 (−2.7 kb) observed in a Chinese patient with Hb H disease. Am J Hematol. 1991;38(3):248–249
  • Eng B, Walsh R, Walker L, et al. Characterization of a rare single α-globin gene deletion in a Chinese woman with Hb H disease. Hemoglobin. 2005;29(4):297–299

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