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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Authors: Kuvibidila SR, Gardner R, Velez MC, Yu L, Warrier RP Abstract Background: Children with sickle cell disease (SCD) often suffer from growth deficits and impaired immunity. However, the association between mild to moderate malnutrition and in vitro lymphocyte function has not been well studied. The goal of this study was to investigate the effects of undernutrition on lymphocyte functions in children with SCD. Methods: Weight; height; plasma concentrations of albumin (Alb), prealbumin (PA), transferrin (Tf), retinol-binding protein (RBP), α1-acid glycoprotein (AGP), C-reactive protein (CRP), and cerulo...
Source: Ochsner Journal - Category: General Medicine Tags: Ochsner J Source Type: research
CONCLUSION: SCI is not uncommon among SCA patients in Turkey. The presence of homozygote HbSS/Sß0 genotype, high MCV and HbS as risk factors for SCI. PMID: 32599969 [PubMed - as supplied by publisher]
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
We report a case of sickle cell trait presenting with chronic pancreatitis with pseudo cyst. USG abdomen and CT abdomen confirmed the diagnosis of chronic calcific pancreatitis with pseudocyst. Etiological work up for other causes did not reveal anything except sickle cell trait. This case represents a rare association between chronic calcific pancreatitis and sickle cell trait.
Source: Indian Journal of Clinical Biochemistry - Category: Biochemistry Source Type: research
Abstract Hemolysis and accumulation of cell-free hemoglobin (Hb) in the circulation or in confined tissue compartments such as the subarachnoid space is an important driver of disease. Haptoglobin is the Hb binding and clearance protein in human plasma and an efficient antagonist of Hb toxicity resulting from physiological red blood cell turnover. However, endogenous concentrations of haptoglobin are insufficient to provide protection against Hb-driven disease processes in conditions such as sickle cell anemia, sepsis, transfusion reactions, medical-device associated hemolysis, or after a subarachnoid hemorrhage. ...
Source: Trends in Molecular Medicine - Category: Molecular Biology Authors: Tags: Trends Mol Med Source Type: research
This study aims to investigate, retrospectively, the epidemiological and clinical characteristics, laboratory results, radiologic findings and outcomes of novel coronavirus disease-19 (COVID-19) in patients with transfusion dependent β thalassemia (β-thalassemia major-TM), non-transfusion dependent β thalassemia (β-thalassemia intermedia -TI) and sickle cell disease (SCD).Design, setting:A total of 17 Centers, from 10 countries, following 9,499 patients with hemoglobinopathies participated in the survey.Main outcome measures:Clinical, laboratory and radiologic findings and outcomes of patients with COVI...
Source: Mediterranean Journal of Hematology and Infectious Diseases - Category: Hematology Authors: Source Type: research
AbstractFetal hemoglobin (HbF) ameliorates clinical severity of sickle cell anemia (SCA). The major loci regulating HbF levels areHBB cluster,BCL11A, and HMIP-2 (HBS1L-MYB). However, the impact of noncoding single-nucleotide polymorphisms (SNPs) in these loci on clinical outcomes and their functional role on regulating HbF levels should be better elucidated. Therefore, we performed comprehensive association analyses of 14 noncoding SNPs in five loci with HbF levels and with clinical outcomes in a cohort of 250 children with SCA from Southeastern Brazil, and further performed functional annotation of these SNPs. We found SN...
Source: Annals of Hematology - Category: Hematology Source Type: research
(Indiana University School of Medicine) A team of international researchers has learned that dose escalation of hydroxyurea treatment for children in Uganda with sickle cell anemia is more effective and has similar side effects than a lower fixed dose of the same drug.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
(Indiana University) A team of international researchers has learned that dose escalation of hydroxyurea treatment for children in Uganda with sickle cell anemia is more effective and has similar side effects than a lower fixed dose of the same drug.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
(Cincinnati Children's Hospital Medical Center) A team of international researchers has learned that dose escalation of hydroxyurea treatment for children in Uganda with sickle cell anemia is more effective and has similar side effects than a lower fixed dose of the same drug. They report in the New England Journal of Medicine that the clinical research milestone removes a major barrier to broadly expand the use of hydroxyurea in low-resource regions like sub-Saharan Africa.
Source: EurekAlert! - Infectious and Emerging Diseases - Category: Infectious Diseases Source Type: news
This study aimed to determine the prevalence of UTIs and haematological and kidney function profiles among SCA patients at the University Teaching Hospitals, Lusaka, Zambia. This was a cross-sectional study conducted between April and July 2019 involving 78 SCA patients who presented at the UTH. Blood and midstream urine samples were collected from each participant using the standard specimen collection procedures. Full blood counts and kidney function tests were determined using Sysmex XT-4000i haematology analyser and the Pentra C200 by Horiba, respectively. Bacterial profiles of the urine samples were determined using c...
Source: Anemia - Category: Hematology Tags: Anemia Source Type: research
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