Hemoglobinopathies—genetically diverse, clinically complex, and globally relevant

short review
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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.

Keywords

Hemoglobinopathy Alpha-thalassemia Beta-thalassemia Sickle cell disease Iron overload 

Notes

Conflict of interest

H. Cario declares that he has no competing interests.

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Copyright information

© Springer-Verlag GmbH Austria, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Pediatrics and Adolescent MedicineUniversity Medical Center UlmUlmGermany

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