Hb Utrecht [α2 129(H12)Leu → Pro], a new unstable α2‐chain variant associated with a mild α‐thalassaemic phenotype
- 1 September 1996
- journal article
- case report
- Published by Wiley in British Journal of Haematology
- Vol. 94 (3) , 483-485
- https://doi.org/10.1046/j.1365-2141.1996.d01-1828.x
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
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