ABSTRACT
To characterize the socioeconomic and demographic aspects of sickle cell disease patients from the state of Rio Grande do Norte (RN), Northeast Brazil, and their adherence to the recommended treatment. Methods: This cross-sectional descriptive study was performed at referral centers for the treatment of hematological diseases. One hundred and fifty-five unrelated individuals with sickle cell disease who went to these centers for outpatient visits were analyzed. All the patients, or their caregivers, were informed about the research procedures and objectives, and answered a standardized questionnaire. Results: The patients were predominantly younger than 12 years old, self-declared as mulatto, lived in small towns fairly distant from the referral center, and had low education and socioeconomic levels. Individuals who were ten or younger were diagnosed at an earlier age. Almost 50% of the patients were taking hydroxyurea, 91.4% reported having received pneumococcal/meningococcal vaccinations and 76.1% received penicillin as antibiotic prophylaxis. However, the majority of them reported having difficulties following the recommendations of the physicians, mainly in respect to attaining the prescribed medications and transportation to the referral centers. Conclusion: These individuals have a vulnerable socioeconomic situation that can lead to an aggravation of their general health and thus deserve special attention from the medical and psychosocial perspectives. Thus, it is necessary to improve public policies that provide Brazilian sickle cell disease patients with better access to medical treatment, living conditions, and integration into society.
Subject(s)
Humans , Anemia, Sickle Cell/therapy , Fetal Hemoglobin , Hydroxyurea/therapeutic use , Penicillins/therapeutic use , Socioeconomic Factors , VaccinationABSTRACT
βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5 percent) were identified with genotype CAR/CAR, 9 (19.1 percent) CAR/BEN, 6 (12.8 percent) CAR/CAM, 1 (2.1 percent) BEN/BEN, 2 (4.3 percent) CAR/Atp, 1 (2.1 percent) BEN/Atp and 1 (2.1 percent) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Anemia, Sickle Cell/genetics , beta-Globins , Haplotypes , Brazil , Genotype , Hemoglobin, Sickle , Polymorphism, Genetic , Polymorphism, Restriction Fragment LengthABSTRACT
35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β0IVS-I-1, β+IVS-I-6, and β039). In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9 percent) had the β+IVS-I-6 mutation, 15 (48.4 percent) the β0IVS-I-1 mutation, 2 (6.5 percent) the β+IVS-I-110 mutation and 1 (3.2 percent) the β+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte.
Subject(s)
Humans , Male , Female , Brazil , Hemoglobinopathies , Mutation , Polymerase Chain Reaction , Population , ThalassemiaABSTRACT
As hemoglobinopatias constituem um grupo de doenças de caráter genético caracterizadas pela síntese de cadeias polipeptídicas estruturalmente anormais ou diminuição da síntese de uma ou mais cadeias de globina. Dentre as variantes estruturais da hemoglobina, ou hemoglobinas anormais, as mais comuns são as hemoglobinas S e C resultantes da substituição de um único aminoácidona cadeia polipeptídica beta. O presente estudo teve como objetivo principal avaliar a prevalência de hemoglobinas anormais em militares. No período de março a junho de 2005, foram analisadas 418 amostras de sangue de militares de ambos os sexos, integrantesde três unidades militares da cidade de Natal, Rio Grande do Norte. O diagnóstico foi realizado mediante a realização de eletroforese de hemoglobina em pH alcalino e pH ácido e teste de solubilidade. A prevalência de variantes estruturais de hemoglobinafoi de 3,11 %, sendo 2,63 % para o traço falciforme (Hb AS) e 0,48 % para o genótipo AC. Não foram detectados indivíduos homozigotos para nenhum dos tipos de hemoglobinas variantes. Os resultados obtidos mostram a necessidade de triagem para detecção dehemoglobinas anormais em nossa população, permitindo a identificação dos portadores dessas alterações genéticas.
Subject(s)
Humans , Male , Female , Hemoglobin C , Hemoglobin, Sickle , Hemoglobins/analysis , Military Personnel , Prevalence , Sickle Cell TraitABSTRACT
As hemoglobinopatias estão incluídas dentre as doenças hereditárias mais freqüentes nas populações humanas. Estudos realizados em diferentes regiões do Brasil têm demonstrado que as hemoglobinas anormais S e C são as mais prevalentes. Com o objetivo de investigar a prevalência de hemoglobinas anormais no período neonatal, foram analisadas 1.940 amostras de sangue de cordão umbilical provenientes de recém-nascidos de três maternidades da cidade de Natal, Rio Grande do Norte. Todas as amostras foram submetidas à eletroforese de hemoglobina em acetato de celulose utilizando tampão Tris-EDTA-Borato pH 8,5. As amostras que apresentaram hemoglobinas anormais foram submetidas à eletroforese em gel de ágar pH 6,2 para confirmação. Foram identificadas 37 (1,91 por cento) amostras com hemoglobinas anormais, das quais 29 (1,50 por cento) com traço falciforme (Hb FAS), 06 (0,31 por cento) com Hb C, uma (0,05 por cento) com anemia falciforme (Hb FS) e uma (0,05 por cento) apresentou Hb Bart's, sugerindo alfa talassemia. Os resultados encontrados evidenciam a necessidade de implantação da triagem de hemoglobinopatias em recém-nascidos na nossa população.
Subject(s)
Anemia, Sickle Cell , Hemoglobins, Abnormal , Infant, Newborn , PrevalenceABSTRACT
CONTEXT: It has been reported that the equilibrium between the erythrocyte protease calpain I and its physiological inhibitor calpastatin is disrupted in patients with essential hypertension. OBJECTIVE: To investigate the activity of non-purified calpain I in hemolysates against the erythrocytic membrane proteins, rather than against other substrates. DESIGN: Evaluation of calpain I red cell activity upon its own physiological substrates in hypertensive patients, in a near-physiological environment. SETTING: LIM-23 and LIM-40 of Hospital das Clinicas of the Faculty of Medicine of USP. SAMPLE: Patients with moderate primary hypertension over 21 years of age who were given amlodipine (n:10) and captopril (n:10) for 8 weeks, plus normal controls (n:10). MAIN MEASUREMENTS: Red cell membrane proteins were incubated with and without protease inhibitors and with and without calcium chloride and underwent polyacrylamide gel electrophoresis. RESULTS: Digestion of bands 2.1 and 4.1 was observed, indicating calpain I acitivity. No statistical differences regarding bands 2.1 and 4.1 were observed before treatment, between the controls and the hypertensive patients, either in ghosts prepared without calcium or with increasing concentrations of calcium. Nor were statistical differences observed after treatment, between the controls and the patients treated with amlodipine and captopril, or between the patients before and after treatment with both drugs. CONCLUSION: The final activity of non-purified calpain I upon its own physiological substrate, which was the approach utilized in this study, may more adequately reflect what happens in red cells. Under such conditions no imbalance favoring calpain I activity increase was observed. The protective factor provided by calpastatin against calpain I activity may diminish under hypertension
Subject(s)
Humans , Adult , Calpain , Hypertension/enzymology , Erythrocyte Membrane/enzymology , Membrane Proteins/physiology , Calcium-Binding Proteins , Captopril , Case-Control Studies , Ankyrins , Amlodipine , Electrophoresis, Polyacrylamide Gel , Hypertension/drug therapy , Membrane Proteins/bloodABSTRACT
Foram estudados indivíduos normais e portadores de hipertensäo essencial com a finalidade de verificar a presenca de proteases ligadas à membrana e também presentes no citosol do glóbulo vermelho. O estudo das proteases procedeu-se através de sua açäo sobre o substrato, representado pelas próprias proteínas da membrana eritrocitária. As proteases ligadas à membrana foram estudadas através de incubaçäo a 37 graus centígrados por vários períodos de tempo de estromas preparados com tampäo sem inibidor de proteases, enquanto que as proteases do citosol foram avaliadas mediante a incubaçäo a 37 graus centígrados por uma hora e 24 horas de hemolisados com estroma em suspensäo preparados com tampäo sem inibidor de proteases na presença ou näo de concentraçöes crescentes de cálcio. Após a incubaçäo e solubilizaçäo dos estromas, foi efetuada a eletroforese em gel de poliacrilamida em presença de SDS (SDS-PAGE) e posterior quantificaçäo das proteínas da membrana eritrocitária por densitometria. Os resultados obtidos permitem concluir que: 1. Existe uma protease näo dependente de cálcio, ligada à membrana do glóbulo vermelho e presente também no citosol que degrada principalmente as espectrinas, mas também a banda 2.1. Esta protease sugere tratar-se da macropaína, uma protease multicatalítica (EC 3.4.99.46). 2. Existe uma protease cálcio-dependente presente no citosol do glóbulo vermelho que degrada a banda 2.1 com 0,05 mM de cálcio e a banda 4.1 com 2,0 mM de cálcio. Esta protease deve tratar-se da calpaína I (EC 3.4.22.17), somente agindo sobre a proteína 4.1 com concentraçöes mais elevadas de cálcio que, talvez rompa ligaçöes inter-moleculares do complexo juncional passando a expor a proteína 4.1 à sua açäo. 3. A protease cálcio dependente presente no citosol näo exibiu comportamento diferente nos pacientes portadores de hipertensäo essencial, quando comparado ao grupo controle. 4. Näo houve diferenças entre os pacientes portadores de hipertensäo essencial sem tratamento e após tratamento com Captopril a Amlodipina. 5. Näo houve diferenças entre os pacientes tratados com Captopril e aqueles tratados com Amlodipina.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Erythrocytes , Hydrolases/blood , Hypertension , Amlodipine , Captopril , Electrophoresis , Electrophoresis, Polyacrylamide Gel , HematologyABSTRACT
Os autores determinaram a frequencia dos tipos de hemoglobinas em 5l8 escolares pertencentes a escolas de primeiro grau da rede estadual de ensino da cidade de Natal,RN. As amostras de sangue coletadas em EDTA foramsubmetidas a eletroforese de hemoglobina em acetado de celulose usando tampao Tris-glicina pH9,1. A analise das amostras demonstrou que 507 (97,88%) tinham Hb AA e 11 (2,12%) apresentavam hemoglobinas anormais representadas pelos genotipos AS (1,93%) e AC (0,19%).