Hematological and molecular characterization of beta-thalassemia/Hb Tak compound heterozygote
Charoenkwan, P.; Thanarattanakorn, P.; Chaovaluksakul, S.; Sittipreechacharn, S.; Sae-Tang, R.; Sanguansermsri, T.
Southeast Asian Journal of Tropical Medicine and Public Health 34(2): 415-419
2003
ISSN/ISBN: 0125-1562 PMID: 12971573 Document Number: 562838
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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