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Abstract Hemoglobinopathies are hemopoietic stem cell disorders with qualitative, quantitative, and combined globin chain abnormalities. The range of newly diagnosed genotypes with resulting phenotype has been steadily increasing due to improved laboratory diagnostic procedures, treatment remains supportive in the majority of encountered diseases. Curative treatment in high-risk patients is limited to HSCT. Transplantation has significant risks but has become standard procedure, more so in thalassemias than in sickle cell disease, due to improved peri- and post-transplantation care. Genetic counseling and screening are relevant in predicting and diagnosing clinical significant genotypes. Furthermore, older patients who would have not been considered for HSCT may benefit, although this approach is still under development. |