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

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.
AuthorsPimlak Charoenkwan, Pattra Thanarattanakorn, Siriporn Chaovaluksakul, Somjai Sittipreechacharn, Rattika Sae-Tang, Torpong Sanguansermsri
JournalThe Southeast Asian journal of tropical medicine and public health (Southeast Asian J Trop Med Public Health) Vol. 34 Issue 2 Pg. 415-9 (Jun 2003) ISSN: 0125-1562 [Print] Thailand
PMID12971573 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Hemoglobins, Abnormal
Topics
  • Child
  • Chromatography, High Pressure Liquid
  • Hemoglobins, Abnormal (analysis)
  • Heterozygote
  • Humans
  • Male
  • Thailand
  • beta-Thalassemia (blood, genetics)

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