Relationships among genomic ancestry, clinical manifestations, socioeconomic status, and skin color of people with sickle cell disease in the State of Pará, Amazonia, Brazil

Abstract

In Brazil about 3500 children are born annually with Sickle Cell Disease (SCD). In the State of Pará, Amazonia, the prevalence is 1%. This article analyzes the Genomic Ancestry (GA) of patients attending the Regional Blood Center in the capital, Belém, in relation to sex, age, clinical manifestations, income, racism, and skin color. Samples were collected from 60 patients (11− 46 years, 34 of them female), and each individual was analyzed for 61 Ancestry Informative Markers (AIM). Semi-structured interviews were conducted to assess socioeconomic status (SES), self-declared color, perception of racism, and symptoms of SCD. From the 55 participants with conclusive DNA samples, 58.2% presented European, 21.8% Amerindian and 20% African DNA. From all the 60 participants, 86.6% self-classified as black or brown, 61.92% were living in poverty and 72% suffered some form of racism due to SCD and/or their skin color. There was an inverse correlation between wage and number of symptoms in all groups. European ancestry and being female was correlated with a greater number of symptoms. In Pará, SCD involves vulnerabilities such as poverty, severe clinical manifestations without treatment, and effects of racism. These results can be useful to develop public policies and to improve quality of life of people with SCD in Brazil and in other countries with heterogeneous populations.