Vnitr Lek 1999, 45(3):151-154

[New beta0-thalassaemic insertion mutation (CD 7/8, +G) in a Slovak family, associated with the Mediterranean haplotype IX].

E Kynclová, V Divoký, L Kovaríková, R Melichárková, J Indráková, M Divoká, T Hammerová, A Sakalová, J Hudecek, K Indrák

Hemato-onkologická klinika FN a LF UP, Olomouc.

The authors describe a newly identified beta0-thalassaemic mutation found in two subjects from two generations of a Slovak family. The beta0-thalassaemic allele developed by insertion of one nucleotide (+G, CD 7/8) into the first exon of the beta-globin gene. The mutation causes a shift of the open globin reading frame which leads to the development of a terminal codon in codon 22. The thalassaemic allele is associated with the mediterranean haplotype IX. The mutation has in both heterozygotes the phenotype of beta0-thalassaemia minor with a slightly elevated level of HbF.

Keywords: Alleles; Codon, Terminator, genetics, ; Exons, genetics, ; Female; Frameshift Mutation; Globins, genetics, ; Haplotypes; Heterozygote; Humans; Male; Middle Aged; Pedigree; Phenotype; Sequence Analysis, DNA; beta-Thalassemia, genetics,

Published: March 1, 1999  Show citation