Interaction of alpha- and delta beta o- thalassaemia: haematological features and globin chain synthesis analysis

J Med Genet. 1981 Feb;18(1):40-2. doi: 10.1136/jmg.18.1.40.

Abstract

An observation of suspected interaction of δβ0- and α-thalassaemia, identified through careful examination of the family, is reported. The δβ0-thalassaemia was of the usual type found in Sardinia, characterised by high Hb F levels and very low levels of glycine in the isolated γCB3 peptide. The haematological findings in the double δβ0-/α-thalassaemia heterozygotes were: normal MCV and Hb A2 levels, increased Hb F (11·3 to 16·8%) heterogeneously distributed in red cells, and almost balanced α/β globin chain synthesis ratios.

MeSH terms

  • Adult
  • Aged
  • Erythrocyte Indices
  • Female
  • Fetal Hemoglobin / metabolism*
  • Genetic Counseling
  • Hemoglobin A / metabolism*
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Thalassemia / genetics
  • Thalassemia / metabolism*

Substances

  • Hemoglobin A
  • Fetal Hemoglobin