Hemoglobinopathies—genetically diverse, clinically complex, and globally relevant

Summary

Hemoglobinopathies represent the most frequent monogenic disorders worldwide. Migration during recent years led to a profoundly increasing number of patients in countries where the indigenous population has not been affected. This short review will give an overview on etiology, pathogenesis, clinical features, diagnostics, and treatment of the most relevant hemoglobinopathies, i.e., the thalassemias and sickle cell disease.

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