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

期刊

HAEMATOLOGICA
卷 100, 期 4, 页码 421-433

出版社

FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.2014.114827

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资金

  1. NIH [NIDDK-R01DK090554, NIDDK-R01 DK095112, NHLBI-R01 HL102449]
  2. UE FP7 THALAMOSS Project (THALAssaemia Modular Stratification System for personalized therapy of beta-thalassemia)
  3. Child Reach Foundation
  4. Isis Pharmaceuticals
  5. Bayer Healthcare
  6. Merganser Biotech

向作者/读者索取更多资源

beta-thalassemias are monogenic disorders characterized by defective synthesis of the beta-globin chain, one of the major components of adult hemoglobin. A large number of mutations in the beta-globin gene or its regulatory elements have been associated with beta-thalassemias. Due to the complexity of the regulation of the beta-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 beta-globin and abnormal erythropoiesis, as well as current and novel therapies.

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