Hb Tak confirmed by DNA analysis: Not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote

James Hoyer, Myra J Wick, Stephen N Thibodeau, K. A. Viker, R. Conner, V. F. Fairbanks

Research output: Contribution to journalArticle

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Abstract

Hemoglobin variants in which a frameshift results in chain elongation are unusual and also have a low population frequency. Hb Tak was previously characterized by amino acid analysis, and it was assumed to be due to an insertion of the dinucleotide CA into codon 146 [CAC→CA(CA)C] which abolishes the normal stop codon at position 147. This insertion causes a frameshift which results in elongation of the β chain by 11 amino acids. This variant has previously been described in a few Thai families. We report the DNA sequence of Hb Tak in an individual of Cambodian descent who is a Hb E/Hb Tak compound heterozygote. In contrast with extended variants of the α- globin chain that are expressed as α-thalassemias, the hematologic effect of Hb Tak/Hb E is a mild polycythemia. The combination of Hb Tak/Hb E is not expressed as a thalassemia.

Original languageEnglish (US)
Pages (from-to)45-52
Number of pages8
JournalHemoglobin
Volume22
Issue number1
StatePublished - 1998

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ASJC Scopus subject areas

  • Hematology
  • Biochemistry

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