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

J. D. Hoyer; M. J. Wick; S. N. Thibodeau; K. A. Viker; R. Conner; V. F. Fairbanks

doi:10.3109/03630269809071516

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

J. D. Hoyer, M. J. Wick, S. N. Thibodeau, K. A. Viker, R. Conner, V. F. Fairbanks

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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 language	English (US)
Pages (from-to)	45-52
Number of pages	8
Journal	Hemoglobin
Volume	22
Issue number	1
DOIs	https://doi.org/10.3109/03630269809071516
State	Published - 1998

ASJC Scopus subject areas

Hematology
Clinical Biochemistry
Genetics(clinical)
Biochemistry, medical

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

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.",

author = "Hoyer, {J. D.} and Wick, {M. J.} and Thibodeau, {S. N.} and Viker, {K. A.} and R. Conner and Fairbanks, {V. F.}",

year = "1998",

doi = "10.3109/03630269809071516",

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T1 - Hb Tak confirmed by DNA analysis

T2 - Not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote

AU - Hoyer, J. D.

AU - Wick, M. J.

AU - Thibodeau, S. N.

AU - Viker, K. A.

AU - Conner, R.

AU - Fairbanks, V. F.

PY - 1998

Y1 - 1998

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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