Prevalence of hemoglobin variants in quilombola communities in the state of Piauí, Brazil

Resumo As hemoglobinas variantes (Hb) decorrem de muta ções nos genes da globina. As variantes estruturais mais frequentes são HbS, HbC, HbD e HbE. O gene da hemoglobina S tem frequência elevada na América, enquanto que no Brasil é maior no Sudeste e Nordeste. O presente artigo tem por objetivo investigar a presença de hemoglobinas variantes em 1 5 comunidades quilombolas do estado do Piauí. Foram analisadas 1.239 amostras, nas quais as hemoglobinas foram triadas pela cromatografia líquida de alta eficiência (HPLC). Aplicou-se questionário referente a gênero, etnia e consanguinidade das populações. Das 1.239 amostras, 5,4% apresentara m o traço falciforme AS, as doenças falciformes SS e SC apareceram em 0,8% do total, nas hemoglobinas AC, AD e DD. Das 1.069 pessoas negras, 84 apresentaram alteração das hemoglobinas; destas, 34 eram do sexo masculino e 53 do feminino. Ocorreu a presença de 13 casamentos consanguíneos dentre as 84 alterações das hemoglobinas. O estudo das hemoglobinas variantes em 15 comunidades remanescentes de quilombos do Piauí contribui para sua educação em saúde frente aos aspectos da herança genética destas proteínas, relevante questão de saúde pública, proporcionando subsídios para a implantação do Programa Estadual ...
Source: Ciencia e Saude Coletiva - Category: Occupational Health Source Type: research

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This study aimed to investigate the association between nutritional status, nutrient intake, and food diversity in children with SCA. A descriptive cross-sectional study was conducted on 74 children with SCA, between 24 and 71 months of age. Anthropometric measurements, food and nutrients consumption were determined. The prevalence of low weight, stunting, and overweight/obesity were 16.2%, 35.1%, and 16.2%, respectively. Mean folic acid intake was low (49.05%±51.22%), whereas the intakes of protein (426.71%±171.93%), retinol (292.97%±403.88%), phosphorus (204.55%±151.35%), magnesium (233.02%&pl...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Original Articles Source Type: research
In this study, novel high resolution X-ray sequences and crystal structures of methemoglobin (Met-Hb) from two sturgeon fish including Persian sturgeon (Acipenser percisus) and Starry sturgeon (Acipenser stellatus) belonging to the Caspian sea has been determined. A comprehensive sequence and structure comparison between these sturgeon Met-Hb and a number of non-sturgeon and normal and sickle cell anaemia human Hb in varying heme states has been carried out highlighting (i) the structural variability in the heme propionate groups; (ii) the existence of certain residues or their displacement and shift in the heme pocket all...
Source: Biochimica et Biophysica Acta (BBA) Proteins and Proteomics - Category: Biochemistry Source Type: research
Sickle cell disease (SCD) is one of the most common hereditary hemoglobinopathies worldwide, affecting almost 400,000 newborns globally each year. It is characterized by chronic hemolytic anemia and endothelial dysfunction, resulting in a constant state of disruption of the vascular system and leading to recurrent episodes of ischemia-reperfusion injury (I/RI) to multiple organ systems. I/RI is a fundamental vascular pathobiological paradigm and contributes to morbidity and mortality in a wide range of conditions, including myocardial infarction, stroke, acute kidney injury, and transplantation.
Source: American Journal of Pathology - Category: Pathology Authors: Tags: Review Source Type: research
Abstract _. PMID: 30890594 [PubMed - as supplied by publisher]
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
In this study, DNA was extracted then PCR was performed. Twelve overlapping fragments covering β-globin gene, have been generated by PCR.A total of 47 alterations have been recognized in β-globin gene. These alterations composed of: deletions, insertion or substitutions as follows:- one mutation identified on the 1st segment; three alterations on 2nd fragment; two alterations on 3rd segment; seven alterations on 4th segment; three substitution on 5th fragment; two changes on 6th fragment; five alterations on 7th fragment; seven substitution changes on 8th fragment; two heterozygous substitution changes on 9th fra...
Source: Saudi Journal of Biological Sciences - Category: Biology Source Type: research
CONCLUSIONS: Currently, there is no high-quality evidence to support or challenge the continued use of hydroxyurea for managing people with transfusion-dependent β-thalassaemia. Multicentre, randomised controlled trials (compared to placebo or other available treatment, i.e. blood transfusion and iron chelation) are needed in order to assess the efficacy and safety of hydroxyurea for reducing the need for blood transfusion, for maintaining or improving mean haemoglobin levels, as well as for determining its cost-effectiveness. PMID: 30882896 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Authors: Eleutério RMN, Nascimento FO, Araújo TG, Castro MF, Filho TPA, Filho PAM, Eleutério J, Elias DBD, Lemes RPG Abstract Background: Sickle cell anaemia (SCA) is the most prevalent monogenic disease in Brazil. In SCA, haemoglobin S (HbS) is formed, which modifies red blood cell morphology. Intravascular haemolysis occurs, in which free Hb and free radicals degrade nitric oxide (NO) and release arginase, which reduces arginine levels. Because arginine is a substrate for NO formation, this decrease leads to reduced NO (vasodilator) synthesis. SCA treatment uses hydroxyurea (HU) to maintain h...
Source: Advances in Hematology - Category: Hematology Tags: Adv Hematol Source Type: research
AbstractAsymmetric dimethylarginine (ADMA) level may play a role in the pathogenesis of cerebrovascular stroke in Children with Sickle Cell Anemia (SCA). To assess the plasma level of ADMA in children with SCA and its correlation to cerebral blood flow. This is a cross sectional study was carried out on 30 children with homozygous SCA under follow up in the Out Patients Clinic, Pediatric Department at Tanta University Hospital and 30 healthy children as a control group. Both groups had undergone the following investigations: Complete blood count, lactate dehydrogenase enzyme, and plasma level of ADMA by a commercial ADMA E...
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research
A cutting-edge clinical trial made a breakthrough in its effort to cure sickle cell anemia. The painful genetic disease affects about 100,000 Americans every year, mostly African Americans. On "60 Minutes," Dr. Jon LaPook followed Jenelle Stephenson for more than a year as she underwent an innovative kind of gene therapy at the National Institutes of Health. The therapy uses HIV to treat patients, but the virus is weakened, so it cannot cause AIDS. LaPook, who watched his report Sunday night with four sickle cell anemia patients, and Stephenson join "CBS This Morning" to discuss the remarkable trial results.
Source: Health News: CBSNews.com - Category: Consumer Health News Source Type: news
Funding Opportunity RFA-HL-20-009 from the NIH Guide for Grants and Contracts. This funding opportunity announcement will supportprojectsto enhance the availability and delivery of safe blood to be used for transfusion in patients from low or lower-middle income countries (LLMICs) in Sub-Saharan Africa (SSA). For example, ensuring that children with malaria or sickle cell disease and pregnant women who suffer from obstetric hemorrhage have access to safe transfusion therapies is of high programmatic interest. BLOODSAFE will support projects that develop and test feasible, effective and sustainable strategies to increase t...
Source: NIH Funding Opportunities (Notices, PA, RFA) - Category: Research Source Type: funding
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