Structural analysis of the alpha-globin gene cluster in two Chinese families with alpha-thalassemias

Zhonghua Yi Xue Za Zhi (Taipei). 1989 Apr;43(4):233-6.

Abstract

The inheritance of alpha-thalassemia is determined by restriction endonuclease mapping in the members of two Chinese families with history of Hb H disease. One family carries the South East Asia (SEA) deletion in alpha-thalassemia-1 determinant and the nondeletion mutation in alpha-thalassemia-2 determinant. The other family carries the SEA deletion in alpha-thalassemia-1 determinant and the leftward deletion in alpha-thalassemia-2 determinant. Direct analysis of the genetic defects by gene mapping technique is the most reliable method for detecting minor forms of alpha-thalassemia and provides valuable information for genetic conseling in affected families.

MeSH terms

  • Asian People / genetics
  • Chromosome Deletion
  • DNA / analysis
  • Female
  • Globins / genetics*
  • Humans
  • Male
  • Multigene Family
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA