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  • Title: Compound heterozygous Hb Tak/Hb E causes secondary erythrocytosis in a Thai family.
    Author: Teawtrakul N, Sirijirachai C, Chansung G, Fucharoen G.
    Journal: Hemoglobin; 2010 Jan; 34(2):165-8. PubMed ID: 20353353.
    Abstract:
    Hb Tak is a rare cause of secondary erythrocytosis. It results from the insertion of two nucleotides (AC) at the termination codon between codon 146 and codon 147 of the beta-globin gene. This insertion causes a frameshift in the terminating codon 147 resulting in an elongated beta chain with an impaired formation of the T-state. We report a Thai family with a compound heterozygosity for Hb Tak [beta147 (+ AC)] and Hb E [beta26(B8)Glu-->Lys] which displayed an asymptomatic erythrocytosis.
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