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Article

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

Haematologica - 1 Feb 2002

Viprakasit Vip, Tanphaichitr Voravarn S, Pung-Amritt Parichat, Petrarat Siripan, Suwantol Lerlugsn, Fisher Chris, Higgs Douglas R

Abstract excerpt

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...

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PMID: 11836160

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TAT

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