[Diagnostics and treatment of alpha- and beta-thalassemias]

Dtsch Med Wochenschr. 2022 Sep;147(19):1250-1261. doi: 10.1055/a-1767-8379. Epub 2022 Sep 20.
[Article in German]

Abstract

Thalassemias are a heterogeneous group of genetic diseases based on a quantitative disorder of globin chain synthesis. They are among the most frequent monogenic hereditary diseases worldwide. Migration during recent years led to a profoundly increasing number of patients in countries where the indigenous population has not been affected. The complex treatment of the patients represents a medical and socioeconomic challenge with the need for structured interdisciplinary clinical care and close collaboration among healthcare providers, regulatory authorities, and health care insurance companies. The following article provides an overview of the causes, pathogenesis, clinical presentation, and treatment of alpha- and beta-thalassemias.

MeSH terms

  • Globins / genetics
  • Humans
  • Thalassemia*
  • beta-Thalassemia* / diagnosis
  • beta-Thalassemia* / genetics
  • beta-Thalassemia* / therapy

Substances

  • Globins