Haemoglobinopathy analyses in the Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method

Clin Lab Haematol. 1999 Aug;21(4):247-56. doi: 10.1046/j.1365-2257.1999.00197.x.

Abstract

The paper reports the results obtained from the study of 949 patients examined for a suspected alpha- or beta-thalassaemia using a rapid modified method of in vitro biosynthesis determination. Part of the results have been evaluated in correlation with the different molecular defects, defects combinations and with the presence of abnormal haemoglobins. The validity of the method for diagnosis of thalassaemia and particularly for the analysis of complex defects combinations which may occur in multiethnic populations is illustrated. The technology of the modified method is thoroughly described and the influence of the factors interfering with the reliability of the experiments is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diagnosis, Differential
  • Gene Frequency
  • Genetic Testing / economics
  • Genetic Testing / methods
  • Genetic Variation
  • Globins / analysis*
  • Globins / biosynthesis*
  • Globins / genetics
  • Hemoglobin SC Disease / diagnosis
  • Hemoglobin SC Disease / genetics
  • Hemoglobinopathies / diagnosis*
  • Hemoglobinopathies / epidemiology*
  • Hemoglobins, Abnormal / analysis
  • Heterozygote
  • Homozygote
  • Humans
  • Leucine / metabolism
  • Netherlands / epidemiology
  • Reticulocytes / metabolism
  • Tritium
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / genetics
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • Tritium
  • Globins
  • Leucine