Clinical phenotypes and molecular characterization of Hb H-Paksé disease.

  title={Clinical phenotypes and molecular characterization of Hb H-Paks{\'e} disease.},
  author={Vip Viprakasit and Voravarn S. Tanphaichitr and Parichat Pung-amritt and Siripan Petrarat and Lerlugsn Suwantol and Chris Fisher and Douglas R Higgs},
  volume={87 2},
BACKGROUND AND OBJECTIVES Hemoglobin Constant Spring (Hb CS), caused by a termination codon mutation (TAA-->CAA) in the a2 gene, is the most common non-deletional type of a thalassemia in Southeast Asia. This mutation can most easily be detected by loss of an MseI-restriction site (T/TAA) spanning the termination codon. Recently, we sequenced the a globin genes from patients with a thalassemia in whom this MseI site was absent. This revealed, a previously described termination codon mutation… CONTINUE READING
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