Double heterozygote leftward/rightward deletion type alpha-thalassaemia in Saudi Arabs

Hum Hered. 1986;36(4):222-6. doi: 10.1159/000153630.

Abstract

Restriction endonucleases have been used for the investigation of deletion type alpha-thalassaemias in the Saudi population. Using Bgl II digestion, we diagnosed 2 cases with 15.8- and 7.0-kb alpha-globin gene fragments. The 15.8-kb Bgl II fragment is obtained in cases with rightward deletion, while the 7.0-kb fragment occurs in cases with leftward deletion. The 2 cases reported in this paper are heterozygous leftward/rightward deletion cases. The Bam HI digestion results and haematological parameter values are reported. This is the first report of heterozygous leftward/rightward deletion in the Saudi population.

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16
  • DNA Restriction Enzymes
  • Female
  • Heterozygote
  • Humans
  • Male
  • Saudi Arabia
  • Thalassemia / genetics*

Substances

  • DNA Restriction Enzymes