Diagnostik und Therapie der alpha- und beta-Thalassämien

Zusammenfassung

Die komplexe Behandlung von Patienten mit Thalassämien stellt nicht nur eine medizinische, sondern angesichts der in den letzten Jahren deutlich gestiegenen Patientenzahlen auch eine gesellschaftliche Herausforderung dar, die eine sehr enge Zusammenarbeit aller Behandler erfordert. Der vorliegende Beitrag erläutert Ursachen und Pathogenese der alpha- und beta-Thalassämien und bietet eine Übersicht zu Klinik und Therapien.

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.

Schlüsselwörter

Hämoglobinopathie - α-Thalassämie - β-Thalassämie - Eisenüberladung - Hämochromatose - Chelat-Therapie

Key words

hemoglobinopathy - α-thalassemia - β-thalassemia - iron overload - hemochromatosis - chelation

Publication History

Article published online:
21 February 2023

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