Objective: 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.

α-Thalassemia, arising from a defect in a-globin chain synthesis, is often caused by deletions involving one or both of the a-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years-of-age, were analyzed. Red blood cell indices were electronically determined, and A2 and F hemoglobins evaluated by HPLC. PCR was applied to the molecular investigation of α-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented α-thalassemia, of which 79 (11.1%) were heterozygous (-α3.7/αα) deletions and 1 (0.1%) homozy- gous (-α3.7/-α3.7). Ethnically, heterozygous deletions were higher (24.8%) in Afro-Brazilians. Comparison of hemato- logical parameters between individuals with normal genotype and those with heterozygous α+-thalassemia showed a statistically significant difference in the number of erythrocytes (p < 0.001), MCV (p < 0.001), MCH (p < 0.001) and Hb A2 (p = 0.007). This study is one of the first dedicated to investigating α-thalassemia 3.7 kb deletion in the population of the State Rio Grande do Norte state. Results obtained demonstrate the importance of investigating this condition in order to elucidate the causes of microcytosis and hypochromia.

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%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) 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.

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%) had the β+IVS-I-6 mutation, 15 (48.4%) the β0IVS-I-1 mutation, 2 (6.5%) the β+IVS-I-110 mutation and 1 (3.2%) 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.

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%) amostras com hemoglobinas anormais, das quais 29 (1,50%) com traço falciforme (Hb FAS), 06 (0,31 %) com Hb C, uma (0,05 %) com anemia falciforme (Hb FS) e uma (0,05 %) 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.

Hemoglobinopathies are among the most prevalent hereditary diseases in humans. Studies in different areas of Brazil have identified the prevalence of S and C abnormal hemoglobins. The study analyzed 1,940 cord blood samples of newborns from maternity hospitals in Natal, Rio Grande do Norte State, to investigate the prevalence of abnormal hemoglobins. All samples were submitted to cellulose acetate electrophoresis using a Tris-EDTA-borate buffer at pH 8.5. Electrophoresis in agar gel pH 6.2 was performed on samples presenting abnormal hemoglobin. Some 37 (1.91%) of the newborns presented hemoglobinopathies, as follows: 29 (1.50%) sickle cell trait (Hb FAS), 6 (0.31%) heterozygous Hb C (Hb FAC), one (0.05%) homozygous Hb S (Hb FS), and one (0.05%) Hb Barts suggestive of alpha thalassemia. The results show the need to implement screening for hemoglobinopathies in the neonatal population.

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%) amostras com hemoglobinas anormais, das quais 29 (1,50%) com traço falciforme (Hb FAS), 06 (0,31 %) com Hb C, uma (0,05 %) com anemia falciforme (Hb FS) e uma (0,05 %) 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.

Hemoglobinopathies are among the most prevalent hereditary diseases in humans. Studies in different areas of Brazil have identified the prevalence of S and C abnormal hemoglobins. The study analyzed 1,940 cord blood samples of newborns from maternity hospitals in Natal, Rio Grande do Norte State, to investigate the prevalence of abnormal hemoglobins. All samples were submitted to cellulose acetate electrophoresis using a Tris-EDTA-borate buffer at pH 8.5. Electrophoresis in agar gel pH 6.2 was performed on samples presenting abnormal hemoglobin. Some 37 (1.91%) of the newborns presented hemoglobinopathies, as follows: 29 (1.50%) sickle cell trait (Hb FAS), 6 (0.31%) heterozygous Hb C (Hb FAC), one (0.05%) homozygous Hb S (Hb FS), and one (0.05%) Hb Barts suggestive of alpha thalassemia. The results show the need to implement screening for hemoglobinopathies in the neonatal population.

CONTEXTO: A quebra do equilíbrio entre a protease erritrocitária calpaina I e o seu inibidor fisiológico calpastatina tem sido relatado em pacientes com hipertensão essencial. OBJETIVO: Neste trabalho a atividade da calpaina I presente nos hemolisados foi investigada contra as próprias proteinas da membrana eritrocitária TIPO DE ESTUDO: avaliação da atividade da calpaina I contra os próprios substratos fisiológicos em pacientes hipertensos em ambiente aproximandamente fisiológico. LOCAL: LIM-23 e LIM-40 do Hospital das Clinicas da Faculdade de Medicina da USP PACIENTES: Pacientes com hipertensão primária moderada que receberam amlodipina (n:10), captopril (n:10), bem como controles normais (n:10) VARIÁVEIS ESTUDADAS: Proteinas da membrana eritrocitária foram incubadas com e sem inibidor, e com e sem cloreto de calcio. RESULTADOS: As bandas 2.1 e 4.1 foram digeridas, indicando a atividade da calpaina I. Não foram encontradas diferenças estatisticamente significantes em relação às bandas 2.1 e 4.1 entre os controles e os pacientes antes do tratamento, seja sem calcio seja com concentrações crescentes de cálcio. Também não foram encontradas diferenças estatísticamente significantes entre os controles e os pacientes depois do tratamento com amlodipin e captopril, bem como entre os pacientes antes e depois do tratamento. CONCLUSÃO: A atividade final da calpaina I não purificada contra os seus próprios substratos fisiológicos pode refletir mais adequadamente o que acontece no glóbulo vermelho, e nessas condições, não foi encontrado desequilíbrio favorecendo o aumento da atividade da calpaina I. Fatores protetores da calpastatina à atividade da calpaina I existentes na hipertensão poderiam estar diminuidos.

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.