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

Ariana Kelly Leandra Silva Da Silva,Hilton Pereira Da Silva,Lorena Madrigal

doi:10.14195/2182-7982_37_7

Ariana Kelly Leandra Silva Da Silva, Hilton Pereira Da Silva + Show 1 more

Open Access

https://doi.org/10.14195/2182-7982_37_7

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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.

Highlights

There is a lack of bioanthropological studies about Sickle Cell Disease (SCD), which is a syndrome incorporating the complex relations among the genetic background of the patients, their skin color, and their socio-economic situation in a Western society that values whiteness, social and economic status
In Brazil, SCD is a condition clouded by racism as many assume the disease is connected to African origins in a derogatory sense, associated with over 300 years of slavery
Biomedical anthropologists are inter- patients in the state of Pará, Brazil, in the ested in the study of the origins of health Amazon Basin

Summary

Introduction

There is a lack of bioanthropological studies about Sickle Cell Disease (SCD), which is a syndrome incorporating the complex relations among the genetic background of the patients, their skin color, and their socio-economic situation in a Western society that values whiteness, social and economic status. The objective here is to disparities considering a myriad of bio- contribute to the anthropological and cultural variables (Leatherman and Jerni- the biomedical literature on “race”, color, gan, 2015) Key among these variables ethnicity, and the lack of objectivity of are social class and socially construed cross-cultural human classification sysrace, which affect access to health care, tems in the health field (Durso et al, 2014; adequate food sources and education Spector et al, 2016; Yudell et al, 2016). A holistic an- GA, sex, age, socio-economic variables, thropological view of health and disease skin color, and perception of racism afdemands that researchers question the ill- fect symptoms of SCD patients. How the mul- electrophoresis using the ABI Prism 3130 tiple social and biological variables inter- sequencer and the software GeneMapact is still unknown

Materials and methods groups were estimated using STRUCTURE

For the statistical analysis about

In the analysis of the socioeconomic

Majority Ancestry DNA of SCD People in the State of Pará

Findings

Cases of racism due to dark skin