Compound Heterozygous Hb Tak/Hb E Causes Secondary Erythrocytosis in a Thai Family
Copyright policy )Compound Heterozygous Hb Tak/Hb E Causes Secondary Erythrocytosis in a Thai Family
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.
- Khon Kaen University Thailand
Male, Heterozygote, Hemoglobin E, Hemoglobins, Abnormal, Headache, Polycythemia, beta-Globins, Middle Aged, Thailand, Pedigree, Oxygen, Young Adult, Humans, Female
Male, Heterozygote, Hemoglobin E, Hemoglobins, Abnormal, Headache, Polycythemia, beta-Globins, Middle Aged, Thailand, Pedigree, Oxygen, Young Adult, Humans, Female
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