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Haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in a Scandinavian perspective

E Theodorsson1, H Birgens, T A Hagve

  • 1IBK/Clinical Chemistry, University Hospital, Linköping, Sweden. elvar.theodorrson@ibk.liu.se

Scandinavian Journal of Clinical and Laboratory Investigation
|March 17, 2007
PubMed

Insights

Haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency are common genetic disorders worldwide. Migration increases their importance for differential diagnosis in many countries, necessitating updated laboratory diagnostic practices.

Area of Science:

  • Medical Genetics
  • Hematology
  • Epidemiology

Background:

  • Haemoglobinopathies (thalassaemia, sickle-cell anaemia) and glucose-6-phosphate dehydrogenase (G6PD) deficiency are prevalent single-genomic disorders globally.
  • Approximately 3% of the world population are heterozygotic for beta-thalassaemia, 1-2% for sickle-cell anaemia, and over 400 million people have G6PD deficiency.
  • These conditions are most common in Mediterranean, Asian, and African regions.

Purpose of the Study:

  • To summarize current epidemiological data on haemoglobinopathies and G6PD deficiency.
  • To elucidate trends and practices in the laboratory diagnosis of these disorders.
  • To address the increasing importance of these conditions due to migration.

Main Methods:

  • Review of current epidemiological data.
  • Analysis of trends in laboratory diagnostic practices.
  • Synthesis of information relevant to differential diagnosis in diverse populations.

Main Results:

  • Highlights the high global prevalence of haemoglobinopathies and G6PD deficiency.
  • Emphasizes the growing significance of these genetic disorders in non-endemic regions due to immigration.
  • Underscores the need for updated diagnostic approaches in clinical laboratories.

Conclusions:

  • Haemoglobinopathies and G6PD deficiency remain significant global health concerns.
  • Migration patterns necessitate increased awareness and improved diagnostic capabilities for these disorders.
  • This special issue provides a comprehensive overview of current knowledge and diagnostic strategies.

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