Charoenkwan Pimlak, Thanarattanakorn Pattra, Chaovaluksakul Siriporn, Sittipreechacharn Somjai, Sae-Tang Rattika, Sanguansermsri Torpong
Division of Hematology/Oncology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Southeast Asian J Trop Med Public Health. 2003 Jun;34(2):415-9.
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.