Association in cis of beta +-thalassemia and hemoglobin S

Am J Hematol. 1987 Nov;26(3):237-45. doi: 10.1002/ajh.2830260305.

Abstract

A Moroccan woman was investigated because of a typical beta-thalassemia trait associated with a low-percentage (11%) hemoglobin (Hb) variant. The beta-thalassemia trait was manifested by a microcytosis, a high HbA2 (above 6%), and an increase of the alpha/beta biosynthetic ratio (1.31). The variant was identified to HbS by amino acid analysis of the abnormal peptide (beta T1) and by DNA mapping with Sau I (Mst II) restriction endonuclease. No additional amino acid substitution was recorded in the beta s-chain. The reduction of beta-globin synthesis occurred exclusively at the expense of the beta s-chain. These results are consistent with the existence of a beta s mutation and a beta +-thalassemia in cis.

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Child, Preschool
  • Codon
  • Female
  • Genetic Variation
  • Hemoglobin A / genetics
  • Hemoglobin, Sickle / genetics*
  • Humans
  • Male
  • Pedigree
  • Thalassemia / blood*
  • Thalassemia / diagnosis
  • Thalassemia / genetics

Substances

  • Codon
  • Hemoglobin, Sickle
  • Hemoglobin A