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Haematologica. 2015 Apr;100(4):418-30. doi: 10.3324/haematol.2014.114827.

β-thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies.

Author information

1
Department of Pediatrics Hematology-Oncology Department of Cell and Developmental Biology Weill Cornell Medical College New York, NY, USA str2010@med.cornell.edu.

Abstract

β-thalassemias are monogenic disorders characterized by defective synthesis of the β-globin chain, one of the major components of adult hemoglobin. A large number of mutations in the β-globin gene or its regulatory elements have been associated with β-thalassemias. Due to the complexity of the regulation of the β-globin gene and the role of red cells in many physiological processes, patients can manifest a large spectrum of phenotypes, and clinical requirements vary from patient to patient. It is important to consider the major differences in the light of potential novel therapeutics. This review summarizes the main discoveries and mechanisms associated with the synthesis of β-globin and abnormal erythropoiesis, as well as current and novel therapies.

PMID:
25828088
PMCID:
PMC4380714
DOI:
10.3324/haematol.2014.114827
[Indexed for MEDLINE]
Free PMC Article

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