Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

Abstract

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, BrasilPrevalence of hemoglobin variants in quilombola communities in the state of Piauí, BrazilResumo As hemoglobinas variantes (Hb)

Population Structure of a Remnant Quilombo Community: An Analysis of the Inbreeding and Ethnic Admixture

“…A non-random reproduction pattern increases the genetic correlation between individuals and may increase the incidence of autosomal recessive genetic diseases with and without ethnic correlation [33], such as sickle cell anemia and Situs Inversus Totalis, respectively. In Brazil, sickle-cell anemia affects 0.1 to 0.3% of the black population, with a tendency to increase significantly due to the high degree of miscegenation found in the country [34] [35]. In Bahia the disease incidence is 1:650, while for the sickle cell trait is 1:17 for live births [36], the incidence in the community is below the national end regional level.…”

Clinical and care profiles of children and adolescents with Sickle Cell Disease in the Brazilian Northeast region

“…It presents variable clinical expression, from mild to severe conditions, with high mortality rates; the most severe and common form of SCD is sickle cell anemia, in which individuals have homozygous (SS) in the HbS. 1,2 The pathological Hb polymerizes when it is exposed to a low pressure of oxygen, it results into multiple changes: red blood cells become rigid, they are destroyed prematurely and presents specific properties that promote inflammation, obstruction of the vasculature and injury to the endothelium, with ischemia and progressive damage to most of the vital organs. 3 The phenomena vaso-occlusive and anemia can cause acute and chronic complications -painful crisis, acute chest syndrome, asplenia, a predisposition to infections, splenic sequestration, spinal aplasia, stroke, priapism, bone necrosis, lower limb ulcers, retinopathy, hepatobiliary alterations, heart, respiratory, and renal failure -which all increase the need for medical care and compromise of quality and life expectancy of the individual.…”

“…3 The phenomena vaso-occlusive and anemia can cause acute and chronic complications -painful crisis, acute chest syndrome, asplenia, a predisposition to infections, splenic sequestration, spinal aplasia, stroke, priapism, bone necrosis, lower limb ulcers, retinopathy, hepatobiliary alterations, heart, respiratory, and renal failure -which all increase the need for medical care and compromise of quality and life expectancy of the individual. [1][2][3][4] The prevalence of SCD varies according to region and ethnic composition of the population. In Brazil it is the most common monogenic hereditary disease, 3 affecting 0.1 to 0.3% of the African-Brazilian population, 2 with an estimated 3,000 births per year of children with SCD, in a ratio of 1:1,000 live births.…”

“…[1][2][3][4] The prevalence of SCD varies according to region and ethnic composition of the population. In Brazil it is the most common monogenic hereditary disease, 3 affecting 0.1 to 0.3% of the African-Brazilian population, 2 with an estimated 3,000 births per year of children with SCD, in a ratio of 1:1,000 live births. 1 There is no official data on the incidences of SCD in Paraíba State where this study was conducted.…”

Distribuição por mesorregião dos casos de anemia e traço falciforme que realizaram a triagem neonatal no Estado do Pará, Brasil no período de 2013 a 2017

“…O acúmulo de hemácias falcizadas, desencadeia o fenômeno de vaso oclusão e hipóxia, acarretando em lesão tecidual, isquemia tecidual, sequestro esplênico, vasculopatia cerebral, insuficiência renal, pulmonar e cardíaca 3 .A doença acomete aproximadamente 7% das populações originarias do Continente Africano, da Região Mediterrânea, do Sudeste Asiático, do Oriente Médio e Extremo Oriente4 . No Brasil, a anemia falciforme acomete de 0,1 a 0,3% da população negra e, devido ao alto grau de miscigenação no nosso país, estudos populacionais demonstram aumento na presença da hemoglobina S na população caucasiana, representando um grave problema de saúde pública5 .Os indivíduos portadores do traço falciforme (Hb AS) são mais frequentes no Brasil afetando de 6 a 10% da população negra e variando de 1,1% a 9,8% na população em geral6 . Nesses indivíduos existe produção tanto de Hb A quanto de Hb S, o que resulta em um fenótipo normal, sendo a concentração de Hb A maior do que a de Hb S 4 .…”