Molecular characterization of β-thalassemia in Hungary

B. Ringelhann, J. G. Szelenyi, M. Horanyi, M. Svobodova, V. Divoky, K. Indrak, S. Hollân, A. Marosi, M. Laub, T. H.J. Huisman

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Abstract

We have identified seven different β-thalassemia mutations and one δβ-thalassemia determinant (the Sicilian type) in 32 members of 17 Hungarian families. The most common mutation is the IVS-I-1 (G→A) change; its high frequency is comparable to that observed in neighboring Czechoslovakia. Additional mutations are of Mediterranean origin. One rare mutation (initiation codon ATG→GTG) was identified as an independent mutation because of the absence of known polymorphisms in the β-globin gene. One new frameshift at codon 51 (-C) was observed in a single individual; hematological data were as expected for a β°-thalassemia heterozygosity.

Original languageEnglish
Pages (from-to)385-387
Number of pages3
JournalHuman genetics
Volume92
Issue number4
DOIs
Publication statusPublished - Oct 1 1993

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ringelhann, B., Szelenyi, J. G., Horanyi, M., Svobodova, M., Divoky, V., Indrak, K., Hollân, S., Marosi, A., Laub, M., & Huisman, T. H. J. (1993). Molecular characterization of β-thalassemia in Hungary. Human genetics, 92(4), 385-387. https://doi.org/10.1007/BF01247340