Hb Utrecht [α2 129(H12)Leu→Pro], a new unstable α2-chain variant associated with a mild α-thalassaemic phenotype

C. L. Harteveld; P. C. Giordano; M. Losekoot; J. G A M Heister; D. Batelaan; P. Van Delft; M. C A Bruin; L. F. Bernini

Hb Utrecht [α2 129(H12)Leu→Pro], a new unstable α2-chain variant associated with a mild α-thalassaemic phenotype

C. L. Harteveld^*
, P. C. Giordano
, M. Losekoot
, J. G A M Heister
, D. Batelaan
, P. Van Delft
, M. C A Bruin
, L. F. Bernini

^*Corresponding author for this work

Child Health

Research output: Contribution to journal › Article › Academic › peer-review

13 Citations (Scopus)

Abstract

We describe a new α₂-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild α-thalassaemic phenotype, is not detectable at the protein level. The α₂ cd129 (CTG→CCG) transition was found by molecular analysis using denaturing gradient gel electrophoresis (DGGE) and single-strand conformation analysis (SSCA) followed by direct sequencing of the α₂-globin gene. Southern analysis revealed a triplication of the ζ-gene in cis with the mutant α-globin gene.

Original language	English
Pages (from-to)	483-485
Number of pages	3
Journal	British Journal of Haematology
Volume	94
Issue number	3
Publication status	Published - 1996

Keywords

α-globin gene
-Thalassaemia
Haemoglobin variant
Point mutation
Unstable haemoglobin

Cite this

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title = "Hb Utrecht [α2 129(H12)Leu→Pro], a new unstable α2-chain variant associated with a mild α-thalassaemic phenotype",

abstract = "We describe a new α2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild α-thalassaemic phenotype, is not detectable at the protein level. The α2 cd129 (CTG→CCG) transition was found by molecular analysis using denaturing gradient gel electrophoresis (DGGE) and single-strand conformation analysis (SSCA) followed by direct sequencing of the α2-globin gene. Southern analysis revealed a triplication of the ζ-gene in cis with the mutant α-globin gene.",

keywords = "α-globin gene, -Thalassaemia, Haemoglobin variant, Point mutation, Unstable haemoglobin",

author = "Harteveld, \{C. L.\} and Giordano, \{P. C.\} and M. Losekoot and Heister, \{J. G A M\} and D. Batelaan and \{Van Delft\}, P. and Bruin, \{M. C A\} and Bernini, \{L. F.\}",

year = "1996",

language = "English",

volume = "94",

pages = "483--485",

journal = "British Journal of Haematology",

issn = "0007-1048",

publisher = "John Wiley \& Sons Inc.",

number = "3",

}

TY - JOUR

T1 - Hb Utrecht [α2 129(H12)Leu→Pro], a new unstable α2-chain variant associated with a mild α-thalassaemic phenotype

AU - Harteveld, C. L.

AU - Giordano, P. C.

AU - Losekoot, M.

AU - Heister, J. G A M

AU - Batelaan, D.

AU - Van Delft, P.

AU - Bruin, M. C A

AU - Bernini, L. F.

PY - 1996

Y1 - 1996

N2 - We describe a new α2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild α-thalassaemic phenotype, is not detectable at the protein level. The α2 cd129 (CTG→CCG) transition was found by molecular analysis using denaturing gradient gel electrophoresis (DGGE) and single-strand conformation analysis (SSCA) followed by direct sequencing of the α2-globin gene. Southern analysis revealed a triplication of the ζ-gene in cis with the mutant α-globin gene.

AB - We describe a new α2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild α-thalassaemic phenotype, is not detectable at the protein level. The α2 cd129 (CTG→CCG) transition was found by molecular analysis using denaturing gradient gel electrophoresis (DGGE) and single-strand conformation analysis (SSCA) followed by direct sequencing of the α2-globin gene. Southern analysis revealed a triplication of the ζ-gene in cis with the mutant α-globin gene.

KW - α-globin gene

KW - -Thalassaemia

KW - Haemoglobin variant

KW - Point mutation

KW - Unstable haemoglobin

UR - https://www.scopus.com/pages/publications/0029812967

M3 - Article

C2 - 8790146

AN - SCOPUS:0029812967

SN - 0007-1048

VL - 94

SP - 483

EP - 485

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 3

ER -

Hb Utrecht [α2 129(H12)Leu→Pro], a new unstable α2-chain variant associated with a mild α-thalassaemic phenotype

Abstract

Keywords

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