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

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

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...

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Bibliographic Details
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
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Institution: Chiang Mai University
Language: English
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Summary: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 gene. The clinical feature of polycythemia reflected a high oxygen affinity of Hb Tak.

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