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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 2
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Short Communication

Compound Heterozygous Hb Tak/Hb E Causes Secondary Erythrocytosis in a Thai Family

Nattiya Teawtrakul Hematology Division, Department of Internal Medicine, Srinagarind hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, ThailandCorrespondence[email protected] mailto:[email protected]
,
Chittima Sirijirachai Hematology Division, Department of Internal Medicine, Srinagarind hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
,
Ganjana Chansung Hematology Division, Department of Internal Medicine, Srinagarind hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
&
Goonnapa Fucharoen Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Science, Khon Kaen University, Khon Kaen, Thailand
Pages 165-168 | Received 24 Nov 2009, Accepted 21 Dec 2009, Published online: 30 Mar 2010
 
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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 β-globin gene. This insertion causes a frameshift in the terminating codon 147 resulting in an elongated β chain with an impaired formation of the T-state. We report a Thai family with a compound heterozygosity for Hb Tak [β147 (+ AC)] and Hb E [β26(B8)Glu→Lys] which displayed an asymptomatic erythrocytosis.

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