'Silent' beta-thalassaemia caused by a 'silent' beta-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia

Br J Haematol. 1982 Aug;51(4):577-83. doi: 10.1111/j.1365-2141.1982.tb02821.x.

Abstract

In a Greek family three cases of beta-thalassaemia intermedia were diagnosed as resulting from the interaction of a typical high HbA2-beta-thalassaemia with an atypical (silent) beta-thalassaemia gene. Following electrophoresis of globins on an acid-urea-Triton-acrylamide system, an otherwise silent beta-like variant was revealed in the carriers of the atypical thalassaemia gene and in the intermediates; it amounted to 33% of the non-alpha chains in the former and to c. 75% in the latter. The provisional name Hb Knossos is suggested for this abnormality.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Electrophoresis, Polyacrylamide Gel
  • Genetic Variation
  • Hemoglobin A2
  • Hemoglobins, Abnormal
  • Heterozygote
  • Humans
  • Middle Aged
  • Pedigree
  • Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • Hemoglobin A2