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Overview

Brazil is a continental country with a very heterogeneous population in regard to ethnic origin. Although most of the Native American (ie, Indian) population is extinct today, their genomic inheritance has contributed to the ethnic mix of the current Brazilian population. The country was colonized by the Portuguese, but from the 16th to 19th centuries, it received about 4 million slaves from Africa. From the 19th century to the middle of 20th century, a very important contingent of immigrants from several countries, including Italy (1.5 million), Spain (0.6 million), Japan, Germany, and Lebanon, arrived and integrated into the Brazilian genetic pool. Several studies have shown that these different ethnic groups are continuously in a process of admixture, which indicates that Brazil has an extremely unique population regarding genetic diseases and, specifically, regarding hemoglobinopathies. In addition, it is important to emphasize that the population is heterogeneously distributed within its different geographical regions. Hence, patients with sickle cell disease (SCD) in Brazil constitute a very singular admixture-rich ethnic population. Studies that have compared the genetic makeup of SCD patient cohorts from Brazil and the United States have revealed high levels of divergence among cases, with a higher European genomic background in Brazil. Moreover, in some region of the country, patients with HbS/β thalassemia compose almost 30% of all SCD patients. Almost all patients with SCD in the country are treated within the Public Healthcare System (Sistema Único de Saúde [SUS]), which provides universal care and covers all health-related costs. To provide care to patients with SCD, the system is organized by government-funded special hematology centers affiliated with state or federal medical institutions, and these are named hemocentros (hemocenters). In each of the 26 Brazilian states, at least 1 of these centers is responsible for the diagnosis and treatment of SCD patients.

In this chapter, we describe the origin and genetic background of the Brazilian population, how they impact the prevalence of SCD, and several clinical and laboratory characteristics of these patients. In addition, we present a description of how the public health system is organized for taking care of SCD patients and outline future challenges related to probable budget reductions in the universal public health system in the country.

Introduction to Brazil

Brazil is one of the largest countries in the world, with approximately 8.5 million km2 of land and an estimated population of 208 million inhabitants in 2018. The population presents a very heterogeneous ethnic origin, which has contributed to the distinguishing characteristics of the Brazilian people who self-classify according to their skin color as White (43.6%), Black (8.2%), Brown (46.8%), and Asiatic or Amerindian (0.9%). It should also be emphasized that the ethnic origin of the population is very diverse in different regions of the country.1

The genesis of the present Brazilian population is complex and still not completely studied.2-6 A high proportion ...

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