A beta zero-thalassaemia due to a 1605 bp deletion of the 5' beta-globin gene region

Br J Haematol. 1993 Sep;85(1):143-7. doi: 10.1111/j.1365-2141.1993.tb08657.x.

Abstract

We studied a heterozygous beta zero-thalassaemia patient from Croatia with an unusually high Hb A2 level of 7.6% and an elevated Hb F level of 5.8%. The same condition was found in his father (Hb A2 8.2%; Hb F 8.5%). Gene mapping and direct sequencing analyses revealed a new deletion of 1605 bp in the 5' beta-globin gene region between positions -984/5 and +620/1. This deletion has not been observed among more than 500 beta-thalassaemia chromosomes from the Balkan countries studied in our laboratory.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA / chemistry
  • Globins / genetics*
  • Hemoglobins / analysis
  • Humans
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins
  • Globins
  • DNA