Hematological and molecular characterization of beta-thalassemia/Hb Tak compound heterozygote.

Pimlak Charoenkwan,Pattra Thanarattanakorn, Siriporn Chaovaluksakul,Somjai Sittipreechacharn, Rattika Sae-Tang,Torpong Sanguansermsri

The Southeast Asian journal of tropical medicine and public health（2003）

Cited 25|Views7

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Abstract

We report a case of beta-thalassemia/Hb Tak compound heterozygote. The 7 year-old Thai boy presented with plethora since birth. Hemoglobin electrophoresis showed a major band between Hb A2 and Hb F and absent Hb A. DNA sequencing study demonstrated an AC insertion at the terminal codon of the beta-globin gene. The clinical feature of polycythemia reflected a high oxygen affinity of Hb Tak.

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Key words

beta-thalassemia/hb tak compound heterozygote

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