Pattern of hemolysis parameters and association with fetal hemoglobin in sickle cell anemia patients in steady state

This study aimed to evaluate the influence of fetal hemoglobin (Hb F) on hemolysis biomarkers in sickle cell anemia patients. Methods: Fifty adult sickle cell anemia patients were included in the study. All patients were taking hydroxyurea for at least six months and were followed at the outpatient clinic of a hospital in Fortaleza, Ceará, Brazil. The control group consisted of 20 hemoglobin AA individuals. The reticulocyte count was performed by an automated methodology, lactate dehydrogenase and uric acid were measured by spectrophotometry and arginase I by enzyme-linked immunosorbent assay (ELISA). The presence of Hb S was detected by high-performance liquid chromatography. The level of significance was set for a p-value <0.05. Results: A significant increase was observed in the reticulocyte count and lactate dehydrogenase, uric acid and arginase I levels in sickle cell anemia patients compared to the control group (p-value <0.05). Patients having Hb F levels greater than 10% showed a significant decrease in the reticulocyte count, arginase I and lactate dehydrogenase. A significant decrease was observed in arginase I levels in patients taking hydroxyurea at a dose greater than 20 mg/kg/day. Conclusion: The results of this study show that sickle cell anemia patients have increases in the hemolysis biomarkers, lactate dehydrogenase, reticulocyte count, arginase I, uric acid and increases in Hb F can reduce the reticulocyte count and arginase I and lactate dehydrogenase levels.

Dosagem de metemoglobina em pacientes adultos com anemia falciforme: influência do tratamento com hidroxiureia / Methemoglobin measure in adult patients with sickle-cell anemia: influence of hydroxyurea therapy

Introduction: Hemoglobin S (HbS) is unstable hemoglobin that easily oxidizes, causing methemoglobin (MetHb) increased production in patients with sickle-cell anemia (SCA). Objectives: To determine MetHb levels and the influence of hydroxyurea (HU) therapy on this marker in patients with SCA. Materials and methods: Blood samples from 53 patients with SCA at the steady-state, with and without HU therapy, and 30 healthy individuals were collected to evaluate MetHb levels. The MetHb measurement was performed by spectrophotometry. Complete blood count, HU measurements, and fetal hemoglobin (HbF) and HbS concentrations were taken from medical records. Results: MetHb levels were statically higher in patients with SCA when compared to control group (p < 0.001). There was no statistical difference in MetHb level between SCA patients, either using or not HU. We obtained a positive correlation between MetHb measurements and HbS concentration (r = 0.2557; p = 0.0323). Conclusion: HbS presence favored hemoglobin breaking down, and consequently increased MetHb production. Treatment with HU, however, did not influence the levels of this marker...

Introdução: A hemoglobina S (HbS) é uma hemoglobina instável que facilmente se oxida, causando aumento da produção de metemoglobina (MetHb) em pacientes com anemia falciforme (AF). Objetivos: Determinar os níveis de MetHb e verificar a influência do tratamento com a hidroxiureia (HU) sobre as dosagens desse marcador em pacientes com AF. Materiais e métodos: Amostras de sangue de 53 pacientes adultos com AF em estado basal, em uso ou não de HU, e 30 indivíduos saudáveis foram coletadas para avaliar os níveis de MetHb. A dosagem de MetHb foi realizada pelo método espectrofotométrico. Os parâmetros hematológicos, a dosagem de HU e a concentração de hemoglobina F (HbF) e HbS foram retirados dos prontuários médicos. Resultados: Níveis de MetHb apresentaram-se mais elevados estatisticamente em pacientes com AF em relação ao grupo-controle (p < 0,0001). Não foi verificada diferença estatística nos níveis de MetHb entre pacientes em uso ou não de HU. Observou-se correlação positiva entre as dosagens de MetHb e a concentração de HbS (r = 0,2557; p = 0,0323). Conclusão: A presença da HbS favoreceu a degradação da hemoglobina, causando elevação da produção de MetHb. Tratamento com HU, entretanto, não influenciou nos níveis desse marcador...

Tumor suppressor p53 protein expression: prognostic significance in patients with low-risk myelodysplastic syndrome

BACKGROUND: At the time of diagnosis, more than 50% of patients with myelodysplastic syndrome have a normal karyotype and are classified as having a favorable prognosis. However, these patients often show very variable clinical outcomes. Furthermore, current diagnostic tools lack the ability to look at genetic factors beyond karyotyping in order to determine the cause of this variability. OBJECTIVE: To evaluate the impact of p53 protein expression at diagnosis in patients with low-risk myelodysplastic syndrome. METHODS: This study enrolled 38 patients diagnosed with low-risk myelodysplastic syndrome. Clinical data were collected by reviewing medical records, and immunohistochemical p53 staining was performed on bone marrow biopsies. RESULTS: Of the 38 participants, 13 (34.21%) showed p53 expression in their bone marrow. At diagnosis, this group of patients also presented clinical features characteristic of a poor prognosis more often than patients who did not express p53. Furthermore, patients expressing p53 had a shorter median survival time compared to those without p53 expression. CONCLUSION: This study shows that the expression of p53 at diagnosis is a useful indicator of distinct clinical characteristics and laboratory profiles found in low-risk myelodysplastic syndrome patients. These data indicate that the immunohistochemical analysis of p53 may be a prognostic tool for myelodysplastic syndrome and should be used as an auxiliary test to help determine the best therapeutic choice. .

Influence of ?S-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia

Background: Sickle cell anemia is a chronic inflammatory disease characterized by an increased production of proinflammatory cytokines including tumor necrosis factor-alpha. Hydroxyurea, by decreasing the polymerization of hemoglobin, reduces inflammatory states. The effect of the genetic polymorphisms of sickle cell patients on tumor necrosis factor-alpha levels remains unknown. Objective: The aim of this study was to investigate the association of tumor necrosis factor-alpha levels with β-globin haplotypes and the use of hydroxyurea. Methods: A cross-sectional study was performed of 67 patients with sickle cell anemia diagnosed at steady-state in a referral hospital in Fortaleza, Ceará, Brazil. A group of 26 healthy individuals was used as control. βS-haplotype analysis was performed by restriction fragment length polymorphism-polymerase chain reaction. The tumor necrosis factor-alpha levels were measured by the enzyme-linked immunosorbent assay test. Laboratory data (complete blood count and fetal hemoglobin) and information regarding the use of hydroxyurea were obtained from medical records. Statistical analysis was performed using R software with the Kruskal-Wallis and Mann-Whitney tests. Statistical significance was established for p-values < 0.05 for all analyses. Results: The mean age of the participants was 35.48 years. Patients with sickle cell anemia had significantly higher tumor necrosis factor-alpha levels than controls (p-values < 0.0001). Tumor necrosis factor-alpha levels were lower in sickle cell anemia patients who were receiving hydroxyurea treatment than those who were not (p-value = 0.1249). Sickle cell anemia patients with Bantu/n genotype had significantly higher levels than patients with the Bantu/Benin genotype (p-value = 0.0021). Conclusion: In summary, βS-globin haplotypes, but not hydroxyurea therapy, have a role in modulating tumor necrosis factor-alpha levels in sickle cell anemia adults at steady-state...

Cytotoxicity and DNA damage in the neutrophils of patients with sickle cell anaemia treated with hydroxyurea

Hydroxyurea (HU) is the most important advance in the treatment of sickle cell anaemia (SCA) for preventing complications and improving quality of life for patients. However, some aspects of treatment with HU remain unclear, including their effect on and potential toxicity to other blood cells such as neutrophils. This study used the measurement of Lactate Dehydrogenase (LDH) and Methyl ThiazolTetrazolium (MTT) and the comet assay to investigate the cytotoxicity and damage index (DI) of the DNA in the neutrophils of patients with SCA using HU.In the LDH and MTT assays, a cytoprotective effect was observed in the group of patients treated, as well as an absence of toxicity. When compared to patients without the treatment, the SS group (n=20, 13 women and 07 men, aged 18-69 years), and the group of healthy individuals (AA) used as a control group (n=52, 28 women and 24 men, aged 19-60 years), The SSHU group (n=21, 11 women and 10 men, aged 19-63 years) showed a significant reduction (p<0.001) in LDH activity and an increase in the percentage of viable cells by the MTT (p<0.001). However, the SSHU group presented significantly higher DI values (49.57±6.0 U/A) when compared to the AA group (7.43 ± 0,94U/A) and the SS group (22.73 ±5.58 U/A) (p<0.0001), especially when treated for longer periods (>20 months), demonstrating that despite the cytoprotective effects in terms of cell viability, the use of HU can induce DNA damage in neutrophils.

A hidroxiuréia (HU) constitui o avanço mais importante no tratamento da anemia falciforme (AF) por prevenir complicações e aumentar a qualidade de vida dos pacientes. Entretanto, alguns aspectos do tratamento com HU permanecem obscuros, incluindo a sua ação e potencial toxicidade em outras células sanguíneas, tais como neutrófilos. Este estudo utilizou a mensuração da lactato desidrogenase (LDH) e do metil tiazoltetrazólio (MTT) e o ensaio do cometa para investigar a citotoxicidade e índice de dano (ID) ao DNA em neutrófilos de pacientes com AF em uso do medicamento. Nos ensaios de LDH e MTT, observou-se além de ausência de toxicidade, uma ação citoprotetora no grupo de pacientes tratados, Grupo SSHU (n=21, 11 mulheres e 10 homens, com idades entre 19-63 anos), quando comparados aos pacientes sem tratamento, Grupo SS (n=20, 13 mulheres e 07 homens, 18-69 anos), e grupo de indivíduos saudáveis (AA) usado como controle (n=52, 28 mulheres e 24 homens, 19-60 anos), com redução significativa (p<0,001) na atividade de LDH e aumento no percentual de células viáveis pelo MTT (p<0,001). Entretanto, o grupo SSHU apresentou valores de ID significativamente elevados (49,57±6,0 U/A), quando comparados ao grupo AA (7,43 ± 0,94U/A) e grupo SS (22,73 ±5,58 U/A) (p<0,0001), especialmente quando tratados por períodos mais longos (>20 meses), demonstrando que apesar dos efeitos citoprotetores quanto à viabilidade celular, o uso da HU pode induzir lesão ao DNA de neutrófilos.

Standardization method for measurement of hydroxyurea by Ultra High Efficiency Liquid Chromatography in plasma of patients with sickle cell disease

Sickle cell anemia (SCA) is a recessively inherited disease characterized by chronic hemolytic anemia, chronic inflammation, and acute episodes of hemolysis. Hydroxyurea (HU) is widely used to increase the levels of fetal hemoglobin (HbF). The objective of this study was to standardize and validate a method for the quantification of HU in human plasma by using ultra high performance liquid chromatography (UPLC) in order to determine the plasma HU levels in adult patients with SCA who had been treated with HU. We used an analytical reverse phase column (Nucleosil C18) with a mobile phase consisting of acetonitrile/water (16.7/83.3). The retention times of HU, urea, and methylurea were 6.7, 7.7, and 11.4 min, respectively. All parameters of the validation process were defined. To determine the precision and accuracy of quality controls, HU in plasma was used at concentrations of 100, 740, and 1600 µM, with methylurea as the internal standard. Linearity was assessed in the range of 50-1600 µM HU in plasma, obtaining a correlation coefficient of 0.99. The method was accurate and precise and can be used for the quantitative determination of HU for therapeutic monitoring of patients with SCA treated with HU.

A anemia falciforme (AF) é uma doença hereditária recessiva caracterizada por anemia hemolítica crônica, inflamação crônica e episódios agudos de hemólise. Hidroxiureia (HU) é amplamente utilizada para aumentar os níveis de hemoglobina fetal (Hb F). O objetivo consiste em padronizar e validar um método para a quantificação de HU no plasma humano utilizando Cromatografia Líquida de Ultra Alta Eficiência (UPLC), a fim de determinar os níveis de HU em pacientes adultos com AF, tratados com HU. Utilizou-se coluna analítica de fase inversa (Nucleosil C18), fase móvel constituída por acetonitrila/água (16,7/83,3). Os tempos de retenção da HU, uréia e metiluréia foram respectivamente de 6,7, 7,7 e 11,4 minutos. Definiram-se todos os parâmetros do processo de validação. Para determinar a precisão e exatidão dos controles de qualidade utilizaram-se concentrações de 100, 740 e 1600 mM de HU no plasma, empregando como padrão interno a metiluréia. A linearidade foi avaliada no intervalo de 50 1600 mM de HU no plasma, obtendo-se coeficiente de correlação de 0,99. O método foi considerado exato e preciso e pode ser realizado com o propósito de determinação quantitativa de HU para monitorização terapêutica de pacientes com AF tratados com esse fármaco.

Kidney dysfunction and beta S-haplotypes in patients with sickle cell disease

Objective: To investigate the association between kidney dysfunction and haplotypes in sickle cell disease. Methods: A cohort of 84 sickle cell disease patients, treated in a public health service in Fortaleza, Brazil, was studied. Hemoglobin S haplotypes were obtained from 57 patients as they had recently received blood transfusions with 18 of them agreeing to undertake urinary concentrating ability and acidification tests. The glomerular filtration rate was estimated using the Modification of Diet in Renal Disease Study equation. Urinary concentration was evaluated utilizing the urinary and serum osmolality ratio (U/Posm) after 12 hours of water deprivation. Urinary acidification was evaluated by measuring the urinary pH before and after the administration of oral CaCl2. The analysis of the haplotypes of the beta S gene cluster was carried out by polymerase chain reaction-restriction fragment length polymorphism. The analysis of variance (ANOVA) test was used for multiple comparisons of means and the Newman-Keuls test was used to identify which groups were significantly different. Results: The mean age of the patients was 33 ± 13 years with 64.2% being females. The glomerular filtration rate was normal in 25 cases (30%) and a rate > 120 mL/min was seen in 52 cases (62%). Urinary concentration deficit was found in all patients who underwent the test and urinary acidification in 22%. There was no significant difference when comparing patients with the Bantu/Bantu and ...

Impact of iron overload on interleukin-10 levels, biochemical parameters and oxidative stress in patients with sickle cell anemia

OBJECTIVE: The aim of this study was to evaluate the impact of iron overload on the profile of interleukin-10 levels, biochemical parameters and oxidative stress in sickle cell anemia patients. METHODS: A cross-sectional study was performed of 30 patients with molecular diagnosis of sickle cell anemia. Patients were stratified into two groups, according to the presence of iron overload: Iron overload (n = 15) and Non-iron overload (n = 15). Biochemical analyses were performed utilizing the Wiener CM 200 automatic analyzer. The interleukin-10 level was measured by capture ELISA using the BD OptEIAT commercial kit. Oxidative stress parameters were determined by spectrophotometry. Statistical analysis was performed using GraphPad Prism software (version 5.0) and statistical significance was established for p-values < 0.05 in all analyses. RESULTS: Biochemical analysis revealed significant elevations in the levels of uric acid, triglycerides, very low-density lipoprotein (VLDL), alanine aminotransferase (ALT), lactate dehydrogenase (LDH), urea and creatinine in the Iron overload Group compared to the Non-iron overload Group and significant decreases in the high-density lipoprotein (HDL) and low-density lipoprotein (LDL). Ferritin levels correlated positively with uric acid concentrations (p-value < 0.05). The Iron overload Group showed lower interleukin-10 levels and catalase activity and higher nitrite and malondialdehyde levels compared with the Non-iron overload Group. CONCLUSION: The results of this study are important to develop further consistent studies that evaluate the effect of iron overload on the inflammatory profile and oxidative stress of patients with sickle cell anemia.

Dengue: profile of hematological and biochemical dynamics

AIM: The objective of this study was to correlate laboratory tests during the evolution of dengue fever, comparing frequencies between the different clinical forms in order to use test results to predict the severity of the disease. METHODS: This is an observational, descriptive and retrospective study of 154 patients with clinical and serological diagnoses of dengue fever who, in the period from January to May 2008, were admitted in a tertiary state hospital in the city of Fortaleza that is a referral center for infectious diseases. The patients were allocated to two groups according to age: under 15 years old (n = 66) and 15 years or older (n = 88). The tests analyzed were blood count, platelet count, and serum aspartate aminotransferase (AST) and alanine aminotransferase (ALT) concentrations. RESULTS: Thrombocytopenia and elevated transaminases were observed in patients with classic dengue fever. The main laboratory abnormalities found in dengue hemorrhagic fever were thrombocytopenia, hemoconcentration and elevated transaminases, similar to severe dengue with the exception of hemoconcentration. Most laboratory abnormalities started on the 3rd day but were more evident on the 5th day with restoration of values by the 11th day; this was more prominent in under 15-year-olds and with the more severe clinical forms. CONCLUSIONS: These results are relevant in assessing the disease because they can be used as markers for more severe forms and can help by enabling the adaptation of the therapeutic conduct to the needs of individual patients.

Estudo neonatal das hemoglobinopatias realizado em laboratório privado de Fortaleza - CE, Brasil / Study of neonatal hemoglobinopathy held in private laboratory of Fortaleza - CE, Brazil

As hemoglobinopatias são doenças genéticas mais frequentes na população humana. Cerca de 12 a 15% da população no mundo é portadora de uma ou mais formas de hemoglobinas anormais, resultando em um grande problema de saúde pública. O diagnóstico neonatal possibilita o tratamento e o aconselhamento genético precoce, incluindo a conscientização dos portadores sobre o risco do nascimento de homozigotos. O presente estudo teve o objetivo de determinar a frequência das hemoglobinopatias entre os recém-nascidos que se submeteram à triagem neonatal em laboratório privado de Fortaleza, no período de janeiro de 2005 a dezembro de 2008. Trata-se de um estudo retrospectivo, através de uma pesquisa realizada em 3587 cromatogramas de recém-nascidos submetidos aos testes de triagem neonatal. As amostras de sangue dos recém-nascidos foram coletadas em papel de filtro e a técnica utilizada foi a cromatografia liquida de alta resolução (HPLC)... A prevalência de 1,31% de hemoglobinas anormais observadas neste estudo foi compatível com dados da literatura nacional e regional.

Serum concentrations of nitrite and malondialdehyde as markers of oxidative stress in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors

BACKGROUND: Chronic myeloid leukemia is a neoplasm characterized by clonal expansion of hematopoietic progenitor cells resulting from the (9:22)(q34,11) translocation. The tyrosine kinase abl fusion protein,the initial leukemogenic event in chronic myeloid leukemia, is constitutively activated thus inducing the production of reactive oxygen species. Of particular relevance is the fact that an increase in reactive oxygen species can facilitate genomic instability and may contribute to disease progression. OBJETIVE: To evaluate oxidative stress by determining the levels of malondialdehyde and nitrite in chronic myeloid leukemia patients under treatment with 1st and 2nd generation tyrosine kinase inhibitors monitored at a referral hospital in Fortaleza, Ceará. METHODS: A cross-sectional study was performed of 64 male and female adults. Patients were stratified according to treatment. The levels of malondialdehyde and nitrite were determined by spectrophotometry. Statistical differences between groups were observed using the Student t-test and Fisher's exact test. The results are expressed as mean ± standard error of mean. The significance level was set for a p-value < 0.05 in all analyses. RESULTS: The results show significantly higher mean concentrations of nitrite and malondialdehyde in chronic myeloid leukemia patients using second-generation tyrosine kinase inhibitors compared to patients on imatinib. Conclusion: It follows that chronic myeloid leukemia patients present higher oxidative activity and that the increases in oxidative damage markers can indicate resistance to 1st generation tyrosine kinase inhibitors.

Correlation of low levels of nitrite and high levels of fetal hemoglobin in patients with sickle cell disease at baseline

BACKGROUND: Sickle cell disease is a hemoglobinopathy characterized by hemolytic anemia, increased susceptibility to infections and recurrent vaso-occlusive crises that reduces the quality of life of sufferers. OBJECTIVE: To evaluate the correlation of the levels of lactate dehydrogenase, malonaldehyde and nitrite to fetal hemoglobin in patients with sickle cell disease not under treatment with hydroxyurea in outpatients at a university hospital in Fortaleza, Ceará, Brazil. METHODS: Forty-four patients diagnosed with sickle cell disease were enrolled at baseline. Diagnosis was confirmed by evaluating the beta globin gene using polymerase chain reaction-restriction fragment length polymorphism. The concentration of fetal hemoglobin was obtained by high-performance liquid chromatography. Serum levels of nitrite, malonaldehyde and lactate dehydrogenase were measured by biochemical methods. RESULTS: Significantly higher levels of lactate dehydrogenase, nitrite and malonaldehyde were observed in patients with sickle cell disease compared to a control group. The study of the correlation between fetal hemoglobin levels and these variables showed a negative correlation with nitrite levels. No correlation was found between fetal hemoglobin and malonaldehyde or lactate dehydrogenase. When the study population was stratified according to fetal hemoglobin levels, a decrease in the levels of nitrite was observed with higher levels of fetal hemoglobin (p-value = 0.0415). CONCLUSION: The results show that, similar to fetal hemoglobin levels, the concentration of nitrite can predict the clinical course of the disease, but should not be used alone as a modulator of prognosis in patients with sickle cell disease.

Bone marrow cytomorphological changes in patients co-infected with visceral leishmaniasis and human immunodeficiency virus

Visceral leishmaniasis (VL) is a severe systemic infectious disease.(1) It has been recognized as an opportunistic disease in patients infected with human immunodeficiency virus (HIV).(2,3) The analysis of the bone marrow of patients co-infected with VL and HIV showed dysplasia of erythroid, granulocytic and megakaryocytic lineages (Figure 1), besides the presence of plasmacytosis, cytoplasmic bodies, hemophagocytosis, granuloma and intracellular and extracellular leishmania amastigotes (Figure 2). These findings are found in the analysis of bone marrow of patients co-infected with HIV and VL; knowledge of these findings may be useful for the diagnosis and prognosis of patients.

Analysis of oxidative status and biochemical parameters in adult patients with sickle cell anemia treated with hydroxyurea, Ceará, Brazil

BACKGROUND: Sickle cell anemia is a hemoglobinopathy caused by a mutation that results in the production of an abnormal hemoglobin molecule, hemoglobin S (Hb S). This is responsible for profound physiological changes, such as the sickling of red blood cells. Several studies have shown that hydroxyurea protects against vaso-occlusive crises. OBJECTIVE: The aim of this study was to evaluate the oxidative stress associated with biochemical parameters in patients with sickle cell anemia treated with hydroxyurea. METHODS: The study was conducted with 20 male and 25 female patients at the Hospital Universitário Walter Cantídio. The patients were divided into two groups: a study group (n = 12), patients with sickle cell anemia who were receiving hydroxyurea and a control group (n = 33) of sickle cell anemia patients not submitted to hydroxyurea treatment. The biochemical parameters analyzed were ferritin, transferrin, and serum iron. Glutathione was measured in its reduced form to analyze the oxidative state. RESULTS: The results showed insignificant increases in the levels of serum iron, transferrin and ferritin in patients treated with hydroxyurea when compared with those who did not take the medication. However, the glutathione levels were significantly higher in patients taking hydroxyurea than in controls. CONCLUSION: These results indicate that hydroxyurea possibly acts as an antioxidant by increasing glutathione levels.

Avaliação das concentrações de malonaldeído e nitrito em pacientes com anemia falciforme em tratamento ou não com hidroxiureia / Evaluation of the concentration of malondialdehyde and nitrite in patients with sickle cell anemia treated or not with hydroxyurea

Objective: To determine the serum levels of malondialdehyde and nitrite in patients with sickle cell anemia treated or not with hydroxyurea in outpatient?s setting. Methods: Of the 65 patients with sickle cell anemia selected for the study, 51 of them were not treated with hydroxyurea (Group 1), 14 made chronic use of hydroxyurea (Group 2) and 20 individuals had no hemoglobinopathies (Control Group). Results: The Control Group had a lower and more homogeneous concentration of malondialdehyde levels as compared to the other groups. The results of Groups 1 and 2 showed increased values of malondialdehyde levels when compared to the Control Group. Considering the values of Groups 1 and 2, there were no significant changes in the malondialdehyde levels. There was no significant difference in the serum levels of nitrite between the groups. Group 2 presented a statistically significant correlation between serum malondialdehyde levels and the clinical variables investigated. In turn, Group 1 showed correlation only with occurrence of three or more vaso-occlusive crises. There was no correlation between nitrite levels and the clinical variables. Conclusion: The results revealed that during the pathogenesis of sickle cell anemia, an increase in lipid peroxidation was observed. On the other hand, no changes in oxidative parameters were detected during treatment with hydroxyurea, probably due to the short period of treatment of the patients studied.

Objetivo: Determinar os níveis séricos de malonaldeído e de nitrito em pacientes com anemia falciforme em tratamento ou não com hidroxiureia e em acompanhamento ambulatorial. Métodos: Dos 65 pacientes com diagnóstico de anemia falciforme selecionados para o estudo, 51 não fizeram tratamento com hidroxiureia (Grupo 1) e 14 fizeram uso crônico de hidroxiureia (Grupo 2), sendo que 20 indivíduos não tinham hemoglobinopatias (Grupo Controle). Resultados: O Grupo Controle possuía menor e mais homogênea concentração dos níveis de malonaldeído em relação aos outros grupos. Os resultados do Grupo 1 e do Grupo 2 mostraram valores aumentados dos níveis de malonaldeído quando comparados ao Grupo Controle. Quando comparados os valores dos Grupos 1 e 2, não foram observadas alterações significativas nos níveis de malonaldeído. Não houve diferença significativa nos níveis séricos de nitrito entre os grupos. Verificou-se que, no Grupo 2, houve uma correlação estatisticamente significativa dos níveis séricos de malonaldeído com as variáveis clínicas investigadas. Por sua vez, o Grupo 1 mostrou correlação somente com a ocorrência de três ou mais crises vaso-oclusivas. Não se verificou nenhuma correlação nos níveis de nitrito com as variáveis clínicas. Conclusão: Os resultados revelaram que, durante o estabelecimento da patogênese da anemia falciforme, pode ser observado um aumento na peroxidação lipídica. Por outro lado, durante o tratamento com a hidroxureia, não foi detectada nenhuma alteração nos parâmetros oxidativos, provavelmente devido ao curto período de tratamento dos pacientes em estudo.

Distribuição das mutações da β-talassemia em Fortaleza, Ceará / Distribution of β-thalassemia mutations in Fortaleza, Ceará

INTRODUÇÃO: As mutações IVS-I-1, IVS-I-6 e CD 39 foram estudadas em 14 pacientes portadores de β-talassemia, da população de Fortaleza, capital do Ceará. OBJETIVO: Fornecer informações sobre a caracterização molecular dos pacientes β-talassêmicos de Fortaleza, contribuindo para traçar o perfil das mutações desta hemoglobinopatia na região Nordeste e no Brasil. MÉTODOS: A β-talassemia foi diagnosticada pelo estudo hematológico realizado no contador automático de células sanguíneas, com revisão de lâminas, pelo teste de resistência globular osmótica em NaCl a 0,36 por cento e pela eletroforese em pH alcalino em fitas de acetato de celulose. O DNA foi isolado de leucócitos a partir de amostras de sangue total. A análise das mutações foi realizada por meio da técnica da reação em cadeia mediada pela polimerase alelo-específica (PCR-AE), sendo analisadas as mutações CD 39, IVSI-1, IVSI-6 e IVSI-110 seguindo-se o protocolo do Laboratório de Hemoglobinas e Genética das Doenças Hematológicas (LHGDH) da Universidade Estadual Paulista (UNESP). RESULTADOS: A distribuição das mutações identificadas foi: IVS-I-1 (14,3 por cento), IVS-I-6 (35,7 por cento) e CD 39 (21,4 por cento). Os demais talassêmicos (28,6 por cento) não apresentaram nenhuma das mutações estudadas. A maior frequência da mutação IVS-I-6 está conforme o esperado, uma vez que estudos demonstram que esta mutação está mais presente na região Nordeste, assim como a mutação IVS-I-1 na região Sul e a IVSI-110 e CD39 na região Sudeste do país. CONCLUSÃO: Esses resultados demonstram o perfil das mutações da β-talassemia na região Nordeste, contribuindo, assim, para o estudo da distribuição destas mutações no Brasil.

INTRODUCTION: IVS-I-1, IVS-I-6 and CD 39 mutations were studied in 14 patients with β-thalassemia from the population of Fortaleza, capital of Ceará. OBJECTIVE: To provide information on the molecular characterization of β-thalassemia patients from Fortaleza, aiding to define the mutation profile of this hemoglobinopathy in the Northeast region and Brazil. METHODS: β-thalassemia was diagnosed by hematological study conducted in automatic blood cell counter, with review of slides through the test of globular osmotic resistance in NaCl 0.36 percent and the alkaline electrophoresis on cellulose acetate strips. DNA was isolated from leukocytes extracted from whole blood samples. The analysis of mutations was performed using the technique of allele specific polymerase chain reaction. CD 39, IVSI-1-6 and IVSI-110 were evaluated according to the protocol used in the Hemoglobin and Genetics Laboratory of Hematologic Diseases (LHGDH/UNESP). RESULTS: The distribution of identified mutations was: IVS-I-1 (14.3 percent), IVS-I-6 (35.7 percent) and CD 39 (21.4 percent). The other thalassemia patients (28.6 percent) showed none of the studied mutations. The highest frequency was IVS-I-6 as anticipated, since studies show that this mutation is more prevalent in the Northeast, as well as IVS-I-1 in the South, and IVSI-110 and CD39 in Southeast of the country. CONCLUSION: These results demonstrate the profile of β-thalassemia mutations in the Northeast region, thus contributing to the study of their distribution in Brazil.

Prevalência de anticoagulante lúpico em pacientes encaminhados ao centro de hemoterapia do estado do Ceará (HEMOCE) pelo Hospital Universitário Walter Cantídio / Prevalence of lupus anticoagulant in patients routed to the blood of Ceará (HEMOCE) by the University Hospital Walter Cantídio

O anticoagulante lúpico (AL) é um importante achado laboratorial para o diagnóstico da síndrome dos anticorpos antifosfolípedes e para melhor entendimento de suas manifestações clínicas. Este trabalho teve como objetivo verificar a prevalência de AL em pacientes encaminhados ao Hemocentro do Ceará (HEMOCE) pelo Hospital Universitário Walter Cabtídio, bem como buscar uma correlação com o quadro clínico pré-existente. Os dados foram obtidos nas fichas laboratoriais. Foram analisadas 197 amostras. A metodologia utilizada foi a pesquisa de AL através do teste do veneno de Víbora Russel (TDVVR), tempo de protrombina (TAP) e Tempo parcial de tromboplastina ativado (TTPa), usando equipamento automatizado (Behring Coagulation Timer, Dade Behring)com metodologia coagulométrica...O estudo identificou a prevalência de AL na população atendida e mostrou a relação entre os achados laboratoriais com os sinais e sintomas dos pacientes.