Banca de DEFESA: RODRIGO MOTA DE OLIVEIRA

Uma banca de DEFESA de DOUTORADO foi cadastrada pelo programa.
STUDENT : RODRIGO MOTA DE OLIVEIRA
DATE: 30/08/2022
TIME: 14:00
LOCAL: IGM Sala Virtual 5
TITLE:

Epidemiological Characterization and Prognostic Biomarkers of Sickle Cell Disease in the Territorial Identity of the State of Bahia

KEY WORDS:

sickle cell disease; morbidity; mortality; afrodescendancy; territory of cultural identity; hydroxyurea; clinical manifestations.

PAGES: 146
BIG AREA: Ciências Biológicas
AREA: Genética
SUMMARY:

INTRODUCTION: sickle cell disease (SCD) is a genetic disease characterized by the presence of variant hemoglobin S (HbS) associated with another variant hemoglobin or thalassemia. The etiology of SCD stems from a point mutation in the sixth codon of the β-globin gene, with substitution of glutamic acid for valine in the polypeptide chain. The most severe form of SCD is sickle cell anemia (SCA), characterized by the homozygous presence of the beta S allen, giving rise to the HbSS genotype. SCD complications vary in severity and can be classified as acute or chronic. The etiology of the hemoglobin variants HbS and HbC is of African origin and is associated with the period of European invasion of Brazilian territory, which may explain why SCD has a high prevalence in Afro-descendant individuals. The present study aims to investigate indicators of morbidity, mortality and prognosis associated with SCD in the state of Bahia. METHODS: studies were carried out involving 178 individuals with SCD between 6 and 54 years of age undergoing treatment at a referral center in the city of Salvador, Bahia. The study covered the period from 2006 to 2017. Information regarding clinical manifestations, medication use, laboratory data, socioeconomic and sociodemographic data were obtained by consulting the clinical records of the patients studied. RESULTS: the first manuscript had a sample of 177 individuals with SCD, 129 with the HbSS genotype and 48 with the HbSC genotype. This study aimed to describe the frequency of the population with SCD in the identity territories (IT) of the state of Bahia. The results showed that the individuals came from 23 TIs. The highest prevalence of SCD was found in the IL in the Metropolitan Region of Salvador (RMS), followed by the ILs in the Recôncavo da Bahia and Portal do Sertão. These data reinforce the historical presence of enslaved Africans in Bahia. The second manuscript had a sample of 178 individuals with SCD analyzed in a retrospective follow-up study between 2006 and 2017. The objective of this manuscript was to describe the main clinical manifestations present in the population studied. We observed that the vaso-occlusive event/pain crisis were the most frequent clinical manifestations and the spinal cord infarction, the least frequent. Thus, we were able to characterize the SCD population served at this referral center. The third manuscript was the result of a retrospective cohort involving a series of 99 patients with SCD undergoing treatment with the drug hydroxyurea (HU). In this study, we analyzed the clinical and laboratory manifestations of patients with SCD before and during the use of HU and we realized that HU was able to reduce the clinical manifestations of the analyzed population, as well as improve their laboratory parameters. CONCLUSIONS: from the results obtained, it was observed that the clinical manifestations that affect individuals with SCD continue to contribute to the high prevalence of morbidity and mortality, especially in the most economically vulnerable population. It is also added that the data presented in this work show the marked presence of descendants of enslaved Africans in Brazil. Our data also confirm the persistence of social and economic inequalities that affect these individuals throughout Brazil's development, as well as clarify that the pharmacological treatment of HbSS and HbSC patients with HU continues to have significant clinical and laboratory benefits in the long term.

BANKING MEMBERS:
Externa à Instituição - CARMEN SILVA BERTUZZO - UNICAMP
Interna - 796.762.515-34 - JULIANA PERRONE BEZERRA DE MENEZES FULLAM - UFBA
Externa à Instituição - MARIA DA CONCEICAO CHAGAS DE ALMEIDA - Fiocruz-Ba
Presidente - 183.851.845-20 - MARILDA DE SOUZA GONCALVES - UNICAMP
Externa à Instituição - MILENA MAGALHÃES ALELUIA - UESC-BA