Molecular characterization of beta-thalassemia in Hungary

Hum Genet. 1993 Oct;92(4):385-7. doi: 10.1007/BF01247340.


We have identified seven different beta-thalassemia mutations and one delta beta-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 beta-globin gene. One new frameshift at codon 51 (-C) was observed in a single individual; hematological data were as expected for a beta zero-thalassemia heterozygosity.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Codon
  • DNA / analysis
  • Frameshift Mutation / genetics
  • Globins / genetics
  • Humans
  • Hungary / epidemiology
  • Molecular Biology
  • Molecular Sequence Data
  • Oligonucleotide Probes
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / genetics*


  • Codon
  • Oligonucleotide Probes
  • Globins
  • DNA