[Molecular genetic studies in alpha-thalassemia]

Ned Tijdschr Geneeskd. 1992 May 2;136(18):872-5.
[Article in Dutch]

Abstract

A group of 5,000 patients, suspected of haemolytic anaemia, were investigated with molecular genetic methods for deletion types of alpha-thalassemia. In 776 (15.6%) patients a deletion of one or more alpha-globin genes was found. The same group of patients was also investigated for abnormal haemoglobins and beta-thalassaemia. In about 30% of the patients either an alpha-thalassaemia, an abnormal haemoglobin, a beta-thalassaemia, or a combination was diagnosed. In a group of patients with a haemoglobinopathy, the frequency of alpha-thalassaemia was much higher (i.e. 33%) than in individuals without haemoglobinopathy. Preselection of the patients based on the presence of microcytic erythrocytes and/or a decreased ADW0.5 of the erythrocytes gave a high incidence of false-negative and false-positive results. Therefore, haemoglobin examination should not be restricted to protein chemistry, but should include molecular genetic investigations for deletion types of alpha-thalassaemia.

Publication types

  • English Abstract

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Pair 16
  • DNA / genetics*
  • Erythrocyte Indices
  • Genotype
  • Globins / genetics
  • Humans
  • Polymorphism, Restriction Fragment Length
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA