Molecular characterization of β-thalassemia in Czechoslovakia

Karel Indrak, Vaclav Brabec, Jarmila Indrakova, Ladislav Chrobak, Adriana Sakalova, Marie Jarosova, Jaroslav Cermak, You jun Fei, Ferdane Kutlar, Yuan chao Gu, Erol Baysal, Titus H.J. Huisman

Research output: Contribution to journalArticlepeer-review

47 Scopus citations


We have identified different β-thalassemia mutations in 93 members of 34 families of Czech or Slovakian descent using gene amplification, hybridization with specific 32P-labeled oligonucleotide probes, sequencing of amplified DNA, and gene mapping. The G→A mutation at IVS-I-1 was found in 18 families; other Mediterranean mutations were IVS-II-1 (G→A), IVS-II-745 (C→G), IVS-I-110 (G→A), and codon 39 (C→T); these were present in 9 additional families. The G→T mutation at codon 121, known to cause Heinzbody β-thalassemia, was present in 3 families, and the frameshift at codons 82/83 (-G), first described in the Azerbaijanian population, in 2 families. A newly discovered allele was a frameshift at codons 38/39 (-C). One β-thalassemia allele was incompletely characterized. We observed in 2 families a T→C mutation at position +96 UTR (untranslated region) relative to the termination codon; this mutation likely is a rare polymorphism, α-Thalassemia was rare; only one person carried the -α3.7 heterozygosity, and one other had a yet to be identified α-thalassemia-1, while seven had the αααanti 3.7 triplication.

Original languageEnglish (US)
Pages (from-to)399-404
Number of pages6
JournalHuman Genetics
Issue number4
StatePublished - Feb 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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