Hematological and molecular characterization of beta-thalassemia/Hb Tak compound heterozygote.
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.
Charoenkwan
Pimlak
P
Division of Hematology/Oncology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand. pcharoen@med.cmu.ac.th
Thanarattanakorn
Pattra
P
Chaovaluksakul
Siriporn
S
Sittipreechacharn
Somjai
S
Sae-Tang
Rattika
R
Sanguansermsri
Torpong
T
D002648:Child; D002851:Chromatography, High Pressure Liquid; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D013785:Thailand; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics*
D006455:Hemoglobins, Abnormal