Sickle Cell Disease in Brazil: Current Management

Abstract

Sickle cell disease (SCD) comprises inherited red blood cell disorders due to a mutation in the β-globin gene (c20A > T, pGlu6Val) and is characterized by the presence of abnormal hemoglobin, hemoglobin S, hemolysis, and vaso-occlusion. This mutation, either in a homozygous configuration or in compound states with other β-globin mutations, leads to polymerization of hemoglobin S in deoxygenated conditions, causing modifications in red blood cell shape, particularly sickling. Vaso-occlusive crisis (VOC) is the hallmark of the disease, but other severe complications may arise from repeated bouts of VOCs. SCD is considered a global health problem, and its incidence has increased in some areas of the world, particularly the Americas and Africa. Management of the disease varies according to the region of the world, mainly due to local resources and socioeconomic status. This review aimed to describe more recent data on SCD regarding available treatment options, especially in Brazil. New treatment options are expected to be available to all patients, particularly crizanlizumab, which is already approved in the country.

Keywords:

• Sickle cell disease
• vaso-occlusive crisis
• hemolysis
• hydroxyurea
• red blood cell

Acknowledgements

The authors would like to thank Dr. Mariangela Correa, MD, PhD for providing writing assistance on behalf of Springer Healthcare. This manuscript was prepared according to the International Society for Medical Publication Professionals Good Publication Practice for Communicating Company-Sponsored Medical Research: The GPP3 Guidelines.

Disclosure statement

CLCL and RDC have no conflicts of interest to declare. STOS acted as a local principal investigator in a crizanlizumab trial. ASA reports receiving research grants and participating in advisory boards at Novartis. ACSP reports receiving honoraria from Novartis and EMS for consulting services. MSF reports receiving honoraria from Pfizer for consulting services. SFMG has participated in clinical studies sponsored by Novartis and Alexion as principal investigator.

Additional information

Funding

Funding to support the preparation of this manuscript was provided by Novartis. The authors take full responsibility for the content and conclusions stated in this manuscript.