Compound heterozygous Hb Tak/Hb E causes secondary erythrocytosis in a Thai family.

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.

• Authors: Nattiya Teawtrakul, Chittima Sirijirachai, Ganjana Chansung, Goonnapa Fucharoen
• Journal: Hemoglobin (Hemoglobin) Vol. 34 Issue 2 Pg. 165-8 (Jan 2010) ISSN: 1532-432X [Electronic] England
• PMID: 20353353 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• beta-Globins
• hemoglobin Tak
• Hemoglobin E
• Oxygen

Topics

• Female
• Headache (etiology)
• Hemoglobin E (chemistry, genetics)
• Hemoglobins, Abnormal (chemistry, genetics)
• Heterozygote
• Humans
• Male
• Middle Aged
• Oxygen (blood)
• Pedigree
• Polycythemia (complications, genetics)
• Thailand
• Young Adult
• beta-Globins (chemistry, genetics)