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

• Main Authors: Charoenkwan P., Thanarattanakorn P., Chaovaluksakul S., Sittipreechacharn S., Sae-Tang R., Sanguansermsri T.
• Format: Article
• Language: English
• Published: 2014
• Online Access: http://www.scopus.com/inward/record.url?eid=2-s2.0-0141628874&partnerID=40&md5=aea7390f565b7f1adac5f445fcab74dc; http://www.ncbi.nlm.nih.gov/pubmed/12971573; http://cmuir.cmu.ac.th/handle/6653943832/3143
• Institution: Chiang Mai University

We report a case of β-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 β-globin...