Papers by Edis Belini Junior
Haematologica, Jun 26, 2017
UNESP Sao Jose do Rio Preto, Dept Biol, Inst Biociencias Letras & Ciencias Exatas Ibilce, Sao... more UNESP Sao Jose do Rio Preto, Dept Biol, Inst Biociencias Letras & Ciencias Exatas Ibilce, Sao Jose Do Rio Preto, Brazil
Einstein (São Paulo), 2022
Objective: To evaluate the incidence of variant hemoglobins of newborn samples from the Neonatal ... more Objective: To evaluate the incidence of variant hemoglobins of newborn samples from the Neonatal Screening Center in the state of Mato Grosso do Sul, Brazil, and to analyze the distribution and spatial autocorrelation of newborns with sickle cell trait. Methods: Samples from 35,858 newborns screened by the Neonatal Screening Center. The samples with inconclusive diagnosis were submitted to electrophoretic, chromatographic, cytological and molecular analyses. The spatial distribution analysis of newborns with sickle cell trait was performed by spatial autocorrelation. Results: A total of 919 newborns showed an abnormal hemoglobin profile; in that, ten genotypes had significant clinical impacts identified. Among the asymptomatic newborns, the sickle cell trait was the most frequent (incidence of 1.885 cases/100 newborns). The highest incidence rates were registered in the municipalities of Terenos, Figueirão, Corguinho and Selvíria. There was positive spatial autocorrelation between the proportion of declared individuals of black race/ color and the incidence of newborns with sickle cell trait. Conclusion: The early diagnosis by neonatal screening and laboratory tests was very important to identify abnormal hemoglobin profiles and guide the spatial autocorrelation analysis of sickle cell trait newborns in Mato Grosso do Sul, serving as a support to anticipate health measures aimed to discuss efficient therapeutic behaviors and effective planning of municipalities with the greatest need for care, monitoring and orientations for affected families.
Genetics and Molecular Research, 2016
Hemoglobin (Hb) variants involving alpha-chains are less common in the global population than Hb ... more Hemoglobin (Hb) variants involving alpha-chains are less common in the global population than Hb variants resulting from beta-chain alterations. Generally, alpha-chain Hb variants are caused by point mutations affecting alpha-1 and/or alpha-2 genes of the alpha-globin cluster (HBA1 and HBA2). In Brazil, the most prevalent alpha-chain Hb variant is Hb Hasharon. In this study, we present the first case of an Hb Val de Marne variant in the Americas, specifically in Brazil.
Hematology, Transfusion and Cell Therapy
Introduction: Sickle cell anemia (SCA) is a Mendelian disorder with a heterogeneous clinical cour... more Introduction: Sickle cell anemia (SCA) is a Mendelian disorder with a heterogeneous clinical course. The reasons for this phenotypic diversity are not entirely established, but it is known that high fetal hemoglobin levels lead to a milder course of the disease. Additionally, genetic variants in the intergenic region HBS1L-MYB promote high levels of fetal hemoglobin into adulthood. Objective: In the present study, we investigated the HMIP1 C-839A (rs9376092) polymorphism, located at the HBS1L-MYB intergenic region block 1, in SCA patients. Method: We analyzed 299 SCA patients followed in two reference centers in Brazil. The HMIP1 C-839A (rs9376092) genotypes were determined by allele specific polymerase chain reactions. Clinical and laboratory data were obtained from patient interviews and medical records. Results: The median fetal hemoglobin levels were higher in patients with the HMIP1 C-839A (rs9376092) AA genotype (CC = 6.4%, CA = 5.6% and AA = 8.6%), but this difference did not reach significance (p = 0.194). No association between HMIP1 C-839A (rs9376092) genotypes and other clinical and laboratorial features was detected (p > 0.05). Conclusion: In summary, our data could not support the previously related association between the HMIP1 C-893A (rs9376092) polymorphism and differential fetal hemoglobin levels.
Brazilian Journal of Health Review
A Doença de Crohn (DC) integra o grupo das Doenças Inflamatórias Intestinais (DII) e apresenta as... more A Doença de Crohn (DC) integra o grupo das Doenças Inflamatórias Intestinais (DII) e apresenta aspectos multifatoriais, os quais dificultam a correta compreensão de sua fisiopatologia. Apesar de forte componente genético de susceptibilidade, com mais de 200 loci associados, esse explica apenas 1/3 dos eventos, evidenciando a relevância de outros fatores. Assim, objetivou-se avaliar a relação entre a genética, fisiopatologia e a ocorrência da DC. Foi realizada uma revisão bibliográfica na base de dados MEDLINE, utilizando os descritores "Crohn's disease", "Genetic Markers" e "Pathology", no período de 2016 a 2021. Foram encontrados 35 artigos, dos quais 18 foram selecionados para compor esse estudo de acordo com os critérios de inclusão e exclusão. Dentre os distúrbios genéticos associados à etiologia complexa da DC, destacam-se: redução de peptídeos intestinais com função de barreira antimicrobiana, desenvolvimento de microbiota pró-inflamatória, polimorfismos nos genes NOD2, ATG16L1 e IRGM relacionados à autofagia e miRNAs desregulados (ex: miR-100, miR-142-3p e miR-146a). Tais fatores contribuem para o estado inflamatório do trato gastrointestinal e possivelmente para a carcinogênese. Têm sido encontrados padrões de metilação específico na DC com diferentes locais de metilação alterada (VMP1, CARD9, WNT2B), incluindo genes relevantes do sistema imune adaptativo e inato (TNFSF4, ITGB2), todos associados a sua etiofisiopatogenia. Conclui-se que as produções científicas entre 2016 e
Direitos para esta edição cedidos à Atena Editora pelos autores. Todo o conteúdo deste livro está... more Direitos para esta edição cedidos à Atena Editora pelos autores. Todo o conteúdo deste livro está licenciado sob uma Licença de Atribuição Creative Commons. Atribuição-Não-Comercial-NãoDerivativos 4.0 Internacional (CC BY-NC-ND 4.0).
Educação em Saúde na Escola: Relatos de Experiência, 2019
Todo o conteúdo deste livro está licenciado sob uma Licença de Atribuição Creative Commons. Atrib... more Todo o conteúdo deste livro está licenciado sob uma Licença de Atribuição Creative Commons. Atribuição 4.0 Internacional (CC BY 4.0). O conteúdo dos artigos e seus dados em sua forma, correção e confiabilidade são de responsabilidade exclusiva dos autores. Permitido o download da obra e o compartilhamento desde que sejam atribuídos créditos aos autores, mas sem a possibilidade de alterá-la de nenhuma forma ou utilizá-la para fins comerciais.
Journal of Human Genetics, 2019
β-S globin haplotype (β S haplotype) characterization in sickle cell anemia (SCA) patients is imp... more β-S globin haplotype (β S haplotype) characterization in sickle cell anemia (SCA) patients is important because it assists individualized treatment. However, the patient with atypical haplotypes do not present detailed studies such as clinical and laboratory data. To understand the phenotypic expression of atypical haplotype patients in relation to typical haplotype ones, it may be necessary to assess the main clinical and laboratorial parameters and investigate transcription factors, as possible genetic modulators that can contribute to the improvement of the SCA patients' clinical condition. The study group was composed of 600 SCA Brazilian patients of both genders ranging in age from 1 to 68 years. The atypical haplotypes were the third most frequent (5.7%) with 11 patterns numerically ranked according to occurrence. We verified that patients with atypical 1 haplotype in combination with Bantu haplotype presented milder clinical outcomes in relation to Bantu/Bantu and Benin/Benin patients, according to improved values of hemoglobin and hematocrit. In clinical severity, we did not observe significant statistical differences between typical and atypical haplotype patients, and this result can be explained with reference to the action of transcription factors in β-globin cluster. Thus, we presented the atypical haplotype relationship with SCA pathophysiology, reinforcing the hypothesis that individual genetic factors may be responsible for phenotypic diversity of the disease.
Archives of endocrinology and metabolism, 2018
Objectives This study aimed to evaluate the frequencies of the angiotensin converting enzyme (ACE... more Objectives This study aimed to evaluate the frequencies of the angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) and methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphisms in obese patients with and without type 2 diabetes mellitus (T2DM). Subjects and methods These polymorphisms were analyzed by polymerase chain reaction in 125 patients with obesity, 47 (T2DM) and 78 (Control Group). Results No significant difference was found on comparing the T2DM and Control Groups in respect to the genotypic frequencies of the polymorphisms - (II: 13.3% vs. 12.0%; ID: 37.8% vs. 37.3; DD: 48.9% vs. 50.7%; CC: 36.2% vs. 39.0%; CT: 46.8% vs. 49.3%; TT: 17.0% vs. 11.7%), and alleles (I: 32.2% vs. 30.7%; D: 67.8% vs. 69.3%; C: 59.6% vs. 63.6%; T: 40.4% vs. 36.4%) and their synergisms in the pathophysiology of T2DM. On analyzing the T2DM Group, there were no significant differences in the presence of complications. In this population of Brazilian obese patients, no correl...
Free radical biology & medicine, May 7, 2017
This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; c... more This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; c. 677C>T) and cystathionine β-synthase (CBS; 844ins68) polymorphisms on overall oxidative status of sickle cell anemia (SCA) patients and on routine markers, correlating them with hydroxycarbamide (HC) treatment. We evaluated 95 unrelated and diagnosed SCA patients. All patients received a prophylactic treatment with folic acid of 5mg/day, while 41 (43.2%) of them were under hydroxycarbamide (HC) treatment (average dose: 22mg/Kg/day). MTHFR and CBS polymorphisms were identified by Polymerase Chain Reaction. Biochemical parameters were measured using spectrophotometric and chromatographic methods. Routine markers were developed by specialized laboratory. We did not find any effect of 677T and "I" allele combination on the biomarkers evaluated. On the other hand, MTHFR 677T mutation was related to a depletion of antioxidant capacity, according to the decreased catalase activit...
Meta Gene, 2017
The aim of this study was to identify, in people with sickle cell anemia (SCA), adenosine deamina... more The aim of this study was to identify, in people with sickle cell anemia (SCA), adenosine deaminase (ADA; c. 22GNA; rs73598374) polymorphism, and correlating it with oxidative stress markers. We evaluated 95 unrelated and diagnosed Brazilian sickle cell anemia (SCA) patients. All patients received a prophylactic treatment with folic acid of 5 mg/day, while 41 (43.2%) of them were under hydroxycarbamide (HC) treatment (average dose: 22 mg/kg/day). ADA polymorphism was identified by PCR-RFLP. Biochemical parameters were measured using spectrophotometric [catalase, glutathione S-transferase, glutathione peroxidase, glutathione reductase activities] and chromatographic methods [fetal hemoglobin (HbF), glutathione (GSH) and malondialdehyde (MDA) levels]. Among the 95 SCA patients, we identified 80 (84.2%) wild homozygous for ADA (22GG), 15 (15.8%) heterozygous (22GA) and none mutant homozygous (22AA), leading to an allelic frequency of 0.92 for the ancestral allele (22G) and 0.08 for the mutant one (22A). Unexpectedly, we did not observe any influence of ADA polymorphism on oxidative stress markers, as well as interaction effects with HC usage. However, we confirmed a well-described protective effect of HC treatment on decreasing MDA levels (p = 0.03). Thus, we concluded that ADA (22GNA) polymorphism does not play significant role in the disruption of sickle erythrocyte redox metabolism.
Journal of human genetics, Jan 10, 2016
Beta S-globin gene cluster haplotypes (β(S)-haplotypes) can modulate the response to hydroxycarba... more Beta S-globin gene cluster haplotypes (β(S)-haplotypes) can modulate the response to hydroxycarbamide (HC) treatment in sickle cell anemia (SCA) patients. In Brazil, the most common haplotypes are Bantu and Benin, and both confer a poor prognosis for patients when untreated with HC. We evaluated oxidative and hemolytic biomarkers in 48 SCA patients undergoing HC treatment separated in three subgroups: Bantu/Bantu, Bantu/Benin and Benin/Benin haplotype. On the basis of reduced haptoglobin (HP) levels, patients with Bantu/Bantu haplotypes had 3.0% higher hemolysis degree when compared with those with Bantu/Benin haplotypes (P=0.01). The Benin/Benin patients had 53.6% greater lipid peroxidation index than the Bantu/Bantu patients (P=0.01) because of evaluated thiobarbituric acid reactive species levels. The Bantu/Benin subgroup had intermediate levels of hemolytic and oxidative stress markers compared with the homozygous subgroups. Through strict inclusion criteria adopted, as well as ...
Blood Cells, Molecules, and Diseases, 2015
The integration of the several clinical and laboratory dimensions and the influence of each param... more The integration of the several clinical and laboratory dimensions and the influence of each parameter on the sickle cell disease (SCD)-related mortality is useful for predicting the phenotype of an individual. This study evaluated the feasibility of the SCD severity calculator use to measure disease severity in Brazilian patients. The study group was composed of 500 SCD patients (440 HbSS and 60 HbSC) diagnosed by molecular biology. We observed a decrease in severity scores in 72 SCD patients assessed before and after the hydroxyurea (HU) use. Furthermore, the HU influenced the increase of mean corpuscular volume (MCV) and HbF concentration, and the decrease of leukocytes and total bilirubin. We found 180 (36.0%) patients with intermediate phenotype, 170 (34.0%) mild phenotype and 150 (30.0%) with severe phenotype. Patients with ages N 40 years had higher mean score (0.778 ± 0.177) than patients between 18 and 40 years (0.562 ± 0.152) and patients between 5 and 17 years (0.322 ± 0.145). We observe that there is a tendency of individuals with leg ulcers, avascular necrosis and cardiac complications with increasing age. Correlation analysis showed relations between severity scores with leukocytes, reticulocytes, bilirubin, lactate dehydrogenase, HbS, hemoglobin and hematocrit (p b 0.05). Several comparisons involving age groups, SCD genotype and phenotypic classification had satisfactory results and this classification will be used for future studies involving genetic polymorphisms, response to treatment with HU and oxidative stress markers in SCD.
Revista Brasileira de Hematologia e Hemoterapia, 2010
Revista Brasileira de Hematologia e Hemoterapia, 2012
Revista Brasileira de Hematologia e Hemoterapia, 2012
International Journal of Laboratory Hematology, 2013
SummaryIntroductionThe oxidative process plays a fundamental role in the pathophysiology of sickl... more SummaryIntroductionThe oxidative process plays a fundamental role in the pathophysiology of sickle cell anemia (SCA), and population and environmental characteristics may influence redox balance. The aim of this study was to evaluate lipid peroxidation and antioxidant capacity in Brazilian Hb S carriers undergoing different therapies.MethodsBlood samples from 270 individuals were analyzed (Hb SS, n = 68; Hb AS, n = 53, and Hb AA, n = 149). Hemoglobin genotypes were assessed through cytological, electrophoretic, chromatographic, and molecular methods. Plasma lipid peroxidation and antioxidant capacity were measured by spectrophotometric methods.ResultsPatients with SCA who used iron‐chelating drugs combined with hydroxyurea, associated with regular transfusions, showed lower levels of TBARS (P ≤ 0.05), higher levels of TEAC (P ≤ 0.01), and lower TBARS/TEAC ratio (R = 255.8). The redox profile of Hb AS subjects was not statistically different (P > 0.05) from that of Hb AA subjects....
Genetics and Molecular Research, 2013
TNFA and TGFB polymorphism frequencies allele A (TNFA). These allelic frequencies are similar to ... more TNFA and TGFB polymorphism frequencies allele A (TNFA). These allelic frequencies are similar to those known from populations with ethnicity similar to the Brazilian population. Inheritance of these polymorphisms does not seem to be associated with that of the Hb S mutation; however, this information could be useful in analyses of specific clinical characteristics of sickle cell anemia.
Free Radical Biology and Medicine, 2013
Erythrocytes have an environment of continuous pro-oxidant generation due to the presence of hemo... more Erythrocytes have an environment of continuous pro-oxidant generation due to the presence of hemoglobin (Hb), which represents an additional and quantitatively significant source of superoxide (O2(-)) generation in biological systems. To counteract oxidative stress, erythrocytes have a self-sustaining antioxidant defense system. Thus, red blood cells uniquely function to protect Hb via a selective barrier allowing gaseous and other ligand transport as well as providing antioxidant protection not only to themselves but also to other tissues and organs in the body. Sickle hemoglobin molecules suffer repeated polymerization/depolymerization generating greater amounts of reactive oxygen species, which can lead to a cyclic cascade characterized by blood cell adhesion, hemolysis, vaso-occlusion, and ischemia-reperfusion injury. In other words, sickle cell disease is intimately linked to a pathophysiologic condition of multiple sources of pro-oxidant processes with consequent chronic and systemic oxidative stress. For this reason, newer therapeutic agents that can target oxidative stress may constitute a valuable means for preventing or delaying the development of organ complications.
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Papers by Edis Belini Junior