Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 265
Filtrar
1.
Rev Bras Epidemiol ; 22Suppl 02(Suppl 02): E190007.SUPL.2, 2019.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31596378

RESUMO

OBJECTIVE: To describe the prevalence of hemoglobinopathies in the Brazilian adult population, according to laboratory tests from the National Health Survey. METHODS: A descriptive study was carried out with National Health Survey laboratory data collected between 2014 and 2015. The hemoglobinopathies test was performed using the High Performance Liquid Chromatography method. The results of the individual tests were interpreted as providing normal, homozygous or heterozygous results for S, C and D hemoglobin, in addition to other possible hemoglobinopathies. Prevalence of hemoglobinopathies according to gender, skin color, region, age and schooling was estimated. RESULTS: Hemoglobinopathies were present in 3.7% of the population. The main ones were the sickle cell trait (2.49%), thalassemia minor (0.30%) and suspected thalassemia major (0.80%). In relation to the sickle cell trait and suspected thalassemia major, there was a statistically significant difference for the skin color variable (p<0.05). The prevalences found for sickle cell trait according to skin color was: 4.1% among dark-skinned blacks, 3.6% among light-skinned blacks, 1.2% among whites, and 1.7% among others. CONCLUSION: The most prevalent hemoglobinopathies were the sickle cell trait and minor thalassemia, and were predominate among light- and dark-skinned black people. The study helps in identifying hemoglobinopathies and in genetic counseling in pre-conception.


Assuntos
Inquéritos Epidemiológicos/métodos , Traço Falciforme/epidemiologia , Talassemia beta/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Brasil/epidemiologia , Cromatografia Líquida de Alta Pressão , Estudos Transversais , Feminino , Inquéritos Epidemiológicos/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Distribuição por Sexo , Fatores Socioeconômicos , Adulto Jovem
2.
Pediatrics ; 144(4)2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31530717

RESUMO

BACKGROUND: Newborn screening provides early diagnosis for children with sickle cell disease (SCD), reducing disease-related mortality. We hypothesized that rapid point-of-care (POC) Sickle SCAN would be reliable in Haiti and would assist newborn screening. METHODS: Dried blood specimens were obtained from infant heel sticks and analyzed by isoelectric focusing (IEF) at a public hospital in Cap-Haïtien during a 1-year period. A total of 360 Guthrie cards were also analyzed for quality assurance by high-performance liquid chromatography at the Florida Newborn Screening Laboratory. In addition, two-thirds of the infants were also screened by the POC to assess differences with the IEF. The hemoglobinopathy incidence and the specificity and sensitivity of the POC scan were assessed. RESULTS: Overall, 1.48% of the children screened positive for SCD. The specificity and the sensitivity of POC Sickle SCAN were 0.97 (confidence interval 0.95-0.99) and 0.90 (confidence interval 0.55-1.00), respectively, relative to high-performance liquid chromatography gold standard. The confirmatory testing rate was 75% before POC and improved to 87% after POC was added for dual screening. Confirmatory testing revealed that 0.83% of children screened had SCD. Children who screened positive for SCD by POC started penicillin earlier, had their first pediatric follow-up a median of 38 days earlier, and received antipneumococcal vaccination on time when compared with those who screened positive for SCD by IEF alone. CONCLUSIONS: The observational study revealed a high incidence of SCD among Haitian newborns. Sickle SCAN had excellent specificity and sensitivity to detect SCD during newborn screening and shortened health care access for children positive for SCD.


Assuntos
Anemia Falciforme/diagnóstico , Triagem Neonatal/métodos , Testes Imediatos , Pobreza , Anemia Falciforme/sangue , Anemia Falciforme/epidemiologia , Cromatografia Líquida de Alta Pressão/normas , Intervalos de Confiança , Feminino , Florida/epidemiologia , Haiti/etnologia , Humanos , Incidência , Lactente , Recém-Nascido , Focalização Isoelétrica/métodos , Masculino , Testes Imediatos/normas , Sensibilidade e Especificidade , Traço Falciforme/diagnóstico , Traço Falciforme/epidemiologia
3.
Gene ; 707: 143-150, 2019 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-31075411

RESUMO

OBJECTIVE: Present study was undertaken to study the association between sickle cell anemia (SCA) and glucose-6-phosphate dehydrogenase (G6PD) deficiency from Sahu and Kurmi population of Durg and Rajnandgaon district of Chhattisgarh, India. METHOD: A random sampling of 1749 individuals was done. SCA and G6PD deficiency was detected by slide test followed by electrophoresis and Enzymatic reaction indicated by change in colour respectively. Further the samples were subjected to analyze glutathione-S-transferase (GST) i.e. GSTM1 and GSTT1 gene polymorphism, variance of G6PD among G6PD deficient samples by PCR-RFLP. Oxidative stress and DNA damage by comet assay was also analyzed. RESULTS: Present finding indicates positive correlation between SCA and G6PD deficiency in Durg and Rajnandgaon district [Durg: (r = 0.92; HbAS-G6PDd and r = 0.56; HbSS-G6PDd) Rajnandgaon: (r = 0.63; HbAS-G6PDd and r = 0.86; HbSS-G6PDd)]. Significant changes (P < 0.05) in antioxidant enzymatic parameters were observed in HbSS and G6PD with sickle positive individual. Assessment of DNA damage by Comet assay considering Head DNA percent, Tail DNA percent, Tail length and Tail moment also showed significant changes (P < 0.05) within all concerned parameters in HbSS and G6PD with sickle positive individual. Analysis of GST gene polymorphism showed that frequency of individuals carrying the GSTM1 null genotype was higher in HbAS (60%) and the frequency of individual carrying the GSTT1 null genotype was found higher in HbSS (66.6%). G6PD variants analysis also confirmed the presence of highest percentage of mutation among G6PD deficient population as compared to control and a positive correlation was observed between G6PD deficiency and mutant variants of G6PD gene [Rajnandgaon: (r = 0.67; G6PDd-Mahidol mutated and r = 0.90; G6PDd-Union mutated) Durg: (r = 0.91; G6PDd-Mahidol mutated and r = 0.01; G6PDd-Union mutated)] . CONCLUSION: Thus present finding indicates positive correlation between SCA and G6PD deficiency in Chhattisgarh, India.


Assuntos
Anemia Falciforme/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Glucosefosfato Desidrogenase/genética , Glutationa Transferase/genética , Anemia Falciforme/genética , Dano ao DNA , Feminino , Genótipo , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Índia/epidemiologia , Masculino , Mutação , Estresse Oxidativo , Polimorfismo de Fragmento de Restrição , Traço Falciforme/epidemiologia , Traço Falciforme/genética
4.
BMC Immunol ; 20(1): 12, 2019 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-31029083

RESUMO

BACKGROUND: High Immunoglobulin G (IgG) response to Plasmodium falciparum antigens is associated with partial malaria protection in sickle hemoglobin (HbS) children. However, this response has been more studied in children with heterozygous sickle cell trait (HbAS) but little explored in those with homozygous sickle cell trait (HbSS). The current study was conducted to determine the IgG responses against specific Plasmodium falciparum antigens in children with homozygous sickle cell trait (HbSS) by comparing to those with normal hemoglobin (HbAA). METHODS: A cross sectional study was conducted between April and July 2018 in Dar es Salaam tertiary hospitals. Parents were consented for their child to give about 5 ml of venous blood. IgG concentration from the blood plasma of 220 children (110 HbAA vs. 110 HbSS) were determined using indirect Enzyme Linked Immunosorbent Assay (ELISA). Then IgG medians were compared between the groups with prism 5 software (GraphPad) using Mann Whitney U test. Where the differences in age, hemoglobin levels and body weight between the groups was analyzed using independent sample t test. Multiple linear regressions were used to control cofounding variables such as body weight, age and hemoglobin level using statistical package for social sciences software (SPSS version 23). P value <0.05 was considered statistically significant. RESULTS: The median IgG concentration to PfEBA-175, Pfg27, yPfs28C antigens were HbSS; 20.7 ng/ml (IQR; 18.1-25.6) vs. HbAA; 2.3 ng/ml (IQR; 1.21-3.04), HbSS; 2.76 ng/ml (IQR: 2.08-5.69) vs. HbAA; 1.36 ng/ml (IQR: 1.28-1.76), and HbSS; 26,592 ng/ml (IQR: 10817-41,462) vs. HbAA; 14,164 ng/ml (IQR; 3069-24,302) respectively (p < 0.0001 for all IgG). In both groups; age, body weight and hemoglobin level had no impact on the levels of IgG responses to Plasmodium falciparum antigens except for HbAA group which showed a significant increase in IgG against Pfg27 by 0.004 ng/ml with 1 g/dl increase in Hb level (p = 0.028). CONCLUSIONS: This study found significant higher levels of specific Plasmodium falciparum IgG responses in children with homozygous sickle cell trait than those with normal hemoglobin.


Assuntos
Hemoglobinas/metabolismo , Malária Falciparum/imunologia , Plasmodium falciparum/fisiologia , Traço Falciforme/imunologia , Adolescente , Anticorpos Antiprotozoários/metabolismo , Antígenos de Protozoários/imunologia , Criança , Pré-Escolar , Estudos Transversais , Resistência à Doença , Feminino , Hemoglobinas/genética , Homozigoto , Humanos , Imunidade Humoral , Imunoglobulina G/metabolismo , Malária Falciparum/epidemiologia , Masculino , Traço Falciforme/epidemiologia , Tanzânia/epidemiologia
5.
Niger J Clin Pract ; 22(2): 201-207, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30729943

RESUMO

Background: Although sickle cell disease has become a recognized etiology of chronic kidney disease (CKD), the sickle cell trait (SCT) variant was until recently believed to be a benign carrier state with little or no effect on the health of affected individuals. However, recent studies now appear to suggest an association between SCT and CKD. Objective: The objective of the study is to determine the association between SCT (hemoglobin AS) and renal dysfunction among young Nigerian adults. Methodology: This was a cross-sectional, descriptive study among apparently healthy undergraduates of Adeyemi College of Education, Ondo, southwest Nigeria. Their hemoglobin genotypes were determined using standard alkaline electrophoresis; their blood pressure, anthropometry, serum total cholesterol (TC), creatinine, and estimated glomerular filtration rate (eGFR) were determined. Data analyzed using Statistical Package for Social Sciences (SPSS) 20 were significant at P < 0.05. Results: Six hundred and two subjects with HbAS (SCT, n = 465) and HbAA (non-SCT, n = 137) were studied. Their age range was 18-30 years with male-to-female ratio 1:3.8. There was no difference in the prevalence of renal dysfunction between SCT and non-SCT subjects (5.1% vs. 5.2%, P = 0.591). There was no increased risk of CKD among subjects with SCT (PR, 0.99 at 95% CI [0.417-2.348]). Conclusion: SCT was not associated with increased risk of renal dysfunction among young adults in Nigeria. Further studies are needed to clarify the controversy, especially in Nigeria, with a relatively higher prevalence of SCT.


Assuntos
Grupo com Ancestrais do Continente Africano/estatística & dados numéricos , Insuficiência Renal Crônica/epidemiologia , Traço Falciforme/epidemiologia , Adolescente , Adulto , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , Pressão Sanguínea , Creatinina/sangue , Estudos Transversais , Feminino , Taxa de Filtração Glomerular , Hemoglobina A , Humanos , Masculino , Nigéria/epidemiologia , Prevalência , Insuficiência Renal Crônica/complicações , Traço Falciforme/sangue , Adulto Jovem
6.
PLoS One ; 14(2): e0212552, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30768636

RESUMO

Fasting glucose (FG) and glycated hemoglobin A1c (HbA1c) perform sub-optimally in people of African origin, especially in individuals with sickle-cell trait (SCT). The purpose of this study was to compare the relationships between HbA1c, FG, and fructosamine in individuals from Senegal with and without SCT. HbA1c, FG, and fructosamine were measured in 203 adults from Senegal (100 control: 45 with type 2 diabetes (T2D); 103 SCT: 51 with T2D). Significant, positive correlations were observed between HbA1c and FG, fructosamine and FG, and fructosamine and HbA1c in both groups. The limits of agreement were inappropriately large in both groups for the Bland-Altman plots of HbA1c and FG (control: -95.97 to 83.97%; SCT: -115.9 to 91.52%), fructosamine and FG (control: -100.6 to 99.89%; SCT: -105.6 to 100.6%), and fructosamine and HbA1c (control: -52.03 to 38.98%; SCT: -88.04 to 71.41%). In both groups, the greatest proportion of subjects were considered above the clinical cut-point for hyperglycemia when fructosamine was used as the criterion (control: 33%; SCT: 44.6%), and the lowest percentage of subjects were classified as over the clinical cut-point when HbA1c was used as the criterion (control: 21%; SCT: 27.7%).Substantial disparities between HbA1c, FG, and fructosamine were observed in both groups, and these differences were exaggerated in the SCT group. Therefore, these three biomarkers should not be considered to be interchangeable measures of glycemic control. These biomarkers should be used thoughtfully, and special care should be taken when using them in individuals with SCT.


Assuntos
Glicemia/análise , Frutosamina/sangue , Hemoglobina A Glicada/análise , Traço Falciforme/sangue , Adulto , Jejum , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Senegal/epidemiologia , Traço Falciforme/epidemiologia
7.
Am J Hematol ; 94(1): 39-45, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30290004

RESUMO

Sickle cell disease (SCD) is a common, life-threatening genetic disorder that is best managed when diagnosed early by newborn screening. However, SCD is most prevalent in low-resource regions of the world where newborn screening is rare and diagnosis at the point-of-care is challenging. In many such regions, the majority of affected children die, undiagnosed, before the age of 5 years. A rapid and affordable point-of-care test for SCD is needed. The diagnostic accuracy of HemoTypeSC, a point-of-care immunoassay, for SCD was evaluated in individuals who had SCD, hemoglobin C disease, the related carrier (trait) states, or a normal hemoglobin phenotype. Children and adults participated in low-, medium- and high-resource environments (Ghana [n = 383], Martinique [n = 46], and USA [n = 158]). Paired blood specimens were obtained for HemoTypeSC and a reference diagnostic assay. HemoTypeSC testing was performed at the site of blood collection, and the reference test was performed in a laboratory at each site. In 587 participants, across all study sites, HemoTypeSC had an overall sensitivity of 99.5% and specificity of 99.9% across all hemoglobin phenotypes. The test had 100% sensitivity and specificity for sickle cell anemia. Sensitivity and specificity for detection of normal and trait states were >99%. HemoTypeSC is an inexpensive (<$2 per test), accurate, and rapid point-of-care test that can be used in resource-limited regions with a high prevalence of SCD to provide timely diagnosis and support newborn screening programs.


Assuntos
Anemia Falciforme/diagnóstico , Imunoensaio , Sistemas Automatizados de Assistência Junto ao Leito , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/epidemiologia , Anticorpos Monoclonais/imunologia , Criança , Países em Desenvolvimento , Diagnóstico Precoce , Feminino , Gana/epidemiologia , Hemoglobina A/análise , Hemoglobina C/análise , Doença da Hemoglobina C/sangue , Doença da Hemoglobina C/diagnóstico , Doença da Hemoglobina C/epidemiologia , Hemoglobina Falciforme/análise , Humanos , Imunoensaio/economia , Recém-Nascido , Masculino , Martinica/epidemiologia , Triagem Neonatal/economia , Triagem Neonatal/métodos , Prevalência , Estudos Prospectivos , Sensibilidade e Especificidade , Traço Falciforme/sangue , Traço Falciforme/diagnóstico , Traço Falciforme/epidemiologia , Método Simples-Cego
8.
J Pediatr Hematol Oncol ; 41(2): 124-128, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30520761

RESUMO

This study sought to examine if modern medical evaluations including newborn screening and early diagnosis along with better methods of disease control have improved rates of hearing loss in children with sickle cell disease (SCD). Audiometric and medical data for patients with SCD was obtained from the AudGen Database and analyzed for the presence of hearing loss, type of hearing loss, severity of hearing loss, and correlation with comorbid conditions. Children with sickle cell trait (SCT) were used as a comparison group. A total of 189 patients with SCD and 244 patients with SCT had sufficient audiologic data available. Hearing loss was present in 62% of children with SCD and 50% of children with SCT in the study population. Patients with SCD were significantly more likely than those with SCT to have a sensorineural component to their hearing loss (P<0.001, odds ratio: 2.41 [1.53 to 3.79]) and to have severe or profound hearing loss (P=0.02, odds ratio: 4.00 [1.14 to 14.04]). The true prevalence of hearing loss in children with SCD has not been established as routine screening is not being performed. Routine auditory testing should be done for these children to detect this loss before it impacts development.


Assuntos
Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Traço Falciforme/diagnóstico , Traço Falciforme/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Índice de Gravidade de Doença , Estados Unidos/epidemiologia
9.
PLoS One ; 13(12): e0209036, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30557319

RESUMO

BACKGROUND: Carriers of the sickle cell trait (HbAS) usually remain asymptomatic. However, under conditions of low tissue oxygenation, red blood cell sickling and vascular obstruction may develop. Chronic kidney disease (CKD) can arise from conditions promoting low-oxygen in kidney tissue, which may be aggravated by the presence of the sickle cell trait. In addition, CKD can arise from other genetic traits. AIM: To compare the frequency of HbAS among hemodialysis patients and the general newborn population of Salvador (Bahia-Brazil), as well as to investigate the frequencies of apolipoprotein L1 risk variants in patients undergoing hemodialysis. METHODS: A cross-sectional study included 306 patients with ESRD (End Stage Renal Disease) on hemodialysis for no more than three years. Hemoglobin profiles were characterized by high-performance liquid chromatography. To estimate the sickle cell trait frequency in the general population of Salvador, we analyzed data collected by a local neonatal screening program between 2011 and 2016. To exclude the potential contributing effect of the apolipoprotein L1 (APOL1) gene variants, we performed genotyping by PCR and DNA sequencing of 45 patients. RESULTS: The frequency of HbAS was significantly higher in hemodialysis patients (9.8%) than in the general population (4.6%): Odds Ratio = 2.32 (95% CI = 1.59-3.38). No differences in demographic, clinical or laboratory data were found among patients with or without the sickle cell trait. The frequency of patients with none, one or two APOL1 risk haplotypes (G1 and G2) for CKD were 80%, 18% and 2%, respectively. CONCLUSIONS: The frequency of the sickle cell trait is higher in patients with ESRD on hemodialysis compared to the general population. APOL1 haplotypes do not seem to be the determinant of ESRD in these patients.


Assuntos
Falência Renal Crônica/complicações , Traço Falciforme/complicações , Traço Falciforme/epidemiologia , Apolipoproteína L1/genética , Brasil/epidemiologia , Feminino , Humanos , Recém-Nascido , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Diálise Renal , Traço Falciforme/genética
12.
Blood ; 132(22): 2331-2338, 2018 11 29.
Artigo em Inglês | MEDLINE | ID: mdl-30487130

RESUMO

Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT seems to be a risk factor for several clinical complications, such as extreme exertional injury, chronic kidney disease, and venous thromboembolism. Increasing knowledge about these clinical outcomes can help inform genetic counseling recommendations. Expanding research and clinical efforts are needed to ensure that the promises of modern and precision medicine can be delivered to the millions of SCT carriers and their children.


Assuntos
Aconselhamento Genético/métodos , Reprodução/fisiologia , Traço Falciforme , Anemia Falciforme/complicações , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Notificação de Doenças , Feminino , Aconselhamento Genético/tendências , Humanos , Recém-Nascido , Masculino , Triagem Neonatal , Gravidez , Traço Falciforme/complicações , Traço Falciforme/diagnóstico , Traço Falciforme/epidemiologia , Traço Falciforme/genética
13.
Diabetes Care ; 41(12): 2595-2602, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30327363

RESUMO

OBJECTIVE: The prevalence of type 2 diabetes (T2D) is rapidly increasing in sub-Saharan Africa, where sickle cell trait (SCT) is also frequent. Although SCT is generally considered a benign condition, evidence suggests that SCT could exaggerate vascular dysfunction in T2D. However, it remains unclear whether SCT could increase the risk of the development of T2D complications. Therefore, this study was conducted to determine whether T2D complications were more prevalent among Senegalese individuals with SCT and T2D than among those with T2D only. RESEARCH DESIGN AND METHODS: Rates of hypertension, retinopathy, peripheral neuropathy, peripheral artery disease, and impaired renal function as well as arterial stiffness, blood rheology, and concentrations of plasma advanced glycation end products (AGEs) and cytokines were compared between groups of Senegalese individuals with combined SCT and T2D (T2D-SCT) (n = 60), T2D (n = 52), SCT (n = 53), and neither T2D nor SCT (control) (n = 56). Human aortic endothelial cell (HAEC) expression of inflammatory and adhesion factors was measured after treatment with tumor necrosis factor-α and subjects' plasma. Effects of AGE inhibition or tiron on HAEC expression of E-selectin were measured. RESULTS: Retinopathy, hypertension, and reduced renal function were more prevalent, and arterial stiffness, blood viscosity at high shear rates, and thixotropic index were higher, in the SCT group compared with the other groups. Multivariable analysis showed that plasma AGE concentration was significantly associated with arterial stiffness. E-selectin expression was elevated in HAECs treated with T2D-SCT plasma compared with the other groups, but AGE inhibition reversed this. CONCLUSIONS: SCT could potentially augment the risk of the development of T2D-related complications, including retinopathy, nephropathy, and hypertension.


Assuntos
Complicações do Diabetes/epidemiologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Traço Falciforme/complicações , Traço Falciforme/epidemiologia , Adulto , Estudos de Casos e Controles , Complicações do Diabetes/complicações , Diabetes Mellitus Tipo 2/sangue , Feminino , Humanos , Hipertensão/complicações , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Senegal/epidemiologia , Traço Falciforme/sangue
14.
Mil Med ; 183(11-12): e735-e740, 2018 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-29889287

RESUMO

Introduction: Sickle cell trait (SCT), the heterozygous carrier state for hemoglobin S, is present in an estimated 1.6% of all newborns and 7.3% in black individuals in the USA. SCT has long been considered a benign condition with anticipated normal life expectancy and no increased risk for chronic diseases. The medical literature is inconclusive on the potential association between SCT and chronic medical conditions (CMC) including chronic kidney disease, venous thromboembolism, and stroke. Studies addressing these questions are lacking particularly in non-Black young adults. Materials and Methods: We conducted a retrospective cohort study among U.S. active duty, enlisted, service members who entered from 1992 to 2012 using existing Department of Defense (DoD Military Healthcare System databases). SCT positive subjects (1,323) were matched by demographic characteristics to SCT negative subjects (3,136) and followed through 2013 for CMC that included deep vein thrombosis, diabetes mellitus and hematologic, pulmonary, and renal conditions. Results: The rate of developing any of the included CMC was higher for those with SCT (incidence rate ratio = 1.71 95% CI 1.61-1.81) compared with those who were SCT negative and their healthcare utilization rate for any of CMC studied was higher for SCT positive compared with negative individuals (URR = 2.45 95% CI 2.41-2.50), with the highest rate ratios observed for hematologic and renal conditions. SCT positive compared with negative individuals were more likely to have encounter diagnoses of sickle cell disease and diabetes Type II and were less likely to have encounter diagnoses of other hemoglobinopathies and diabetes type I. Conclusion: SCT in these racially diverse, young adults increased both the incidence of and healthcare utilization for thromboembolism, diabetes mellitus type II, sickle cell disease, pulmonary, and chronic renal conditions. These findings suggest that clinicians treating young adults with SCT should exercise heightened surveillance for these CMC to ensure both early diagnosis and access to treatments.


Assuntos
Doença Crônica/epidemiologia , Traço Falciforme/epidemiologia , Adolescente , Adulto , Anemia Falciforme/epidemiologia , Estudos de Coortes , Grupos de Populações Continentais/estatística & dados numéricos , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Humanos , Incidência , Pneumopatias/epidemiologia , Masculino , Insuficiência Renal Crônica/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Estados Unidos/epidemiologia , Tromboembolia Venosa/epidemiologia
15.
JAMA Neurol ; 75(7): 802-807, 2018 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-29710269

RESUMO

Importance: African Americans and individuals of African ancestry have a higher risk of stroke compared with non-Hispanic white individuals. Identifying the source of this disparity could provide an opportunity for clinical stroke risk stratification and more targeted therapy. Whether sickle cell trait (SCT) is an indicator of increased risk of ischemic stroke among African Americans is still unclear. Objective: To examine whether SCT is associated with a higher risk of incident ischemic stroke among African Americans. Design, Setting, and Participants: This meta-analysis assessed the association of SCT with the risk of incident ischemic stroke. Four large, prospective, population-based studies with African American cohorts were assessed: Jackson Heart Study (September 1, 2005, through December 31, 2012), Multi-Ethnic Study of Atherosclerosis (July 1, 2002, through December 31, 2012), Reasons for Geographic and Racial Differences in Stroke (January 1, 2003, through December 31, 2014), and Women's Health Initiative (October 1, 1998, through December 31, 2012). Using a Cox proportional hazards regression model adjusted for major stroke risk factors, this study estimated the hazard ratio for incident ischemic stroke associated with SCT. Data analysis was performed from July 10, 2016, to February 2, 2017. Interventions or Exposures: Participants' SCT status determined by polymerase chain reaction assay genotyping or a combination of whole-exome sequencing and imputation. Main Outcomes and Measures: Incident ischemic stroke. Results: This meta-analysis included 19 464 African American individuals (1520 with SCT, 17 944 without SCT, and 620 with ischemic stroke) from 4 studies, with a mean (SD) age of 60.0 (13.0) years (5257 [27.0%] men and 14 207 [73.0%] women). No differences were found in the distribution of risk factors for ischemic stroke comparing participants with and those without SCT at study visit 1 in each cohort. The crude incidence of ischemic stroke was 2.9 per 1000 person-years (95% CI, 2.2-4.0 per 1000 person-years) among those with SCT and 3.2 per 1000 person-years (95% CI, 2.7-3.8 per 1000 person-years) among those without SCT. After stroke risk factors were adjusted for, the hazard ratio of incident ischemic stroke independently associated with SCT in the meta-analysis of all 4 cohorts was 0.80 (95% CI, 0.47-1.35; P = .82). The results of the meta-analysis were similar to those of individual cohorts, in which the results were also similar. Conclusions and Relevance: Sickle cell trait may not be associated with incidence of ischemic stroke among African Americans. The results of this study suggest performing a more thorough clinical evaluation of a stroke patient with SCT rather than assuming that SCT is the etiologic factor for the stroke.


Assuntos
Afro-Americanos/estatística & dados numéricos , Isquemia Encefálica/epidemiologia , Traço Falciforme/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Idoso , Feminino , Hemoglobinas/genética , Heterozigoto , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Mutação , Traço Falciforme/genética , Estados Unidos/epidemiologia
16.
Mil Med ; 183(3-4): e213-e218, 2018 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-29514337

RESUMO

Introduction: Sickle cell trait (SCT) affects an estimated 5.02% of non-Hispanic blacks, 1.08% of Hispanics, and 0.1% of Whites in the U.S. military. Policies for SCT screening and occupational restrictions vary by service. Population-based studies of SCT with quantification of military-relevant outcomes are lacking. Methods: The study design was a retrospective cohort of 15,081 SCT-positive versus 60,320 SCT-negative U.S. active duty personnel enlisted from 1992 to 2012 and followed through 2013. Military-relevant outcome included number and days of deployment, length of service, and cause of death. Results: SCT-positive versus SCT-negative service members experienced more deployments (p < 0.01) and longer number of days deployed for all services, especially the Army (p < 0.001). The median length of service was longer for SCT-positive service members stratified by service and by gender (p < 0.05). The adjusted risk of length of service greater than 5 yr by SCT status was 1.37 (95% confidence interval 1.31-1.43) with greater than a three-fold higher risk in the Navy and Air Force compared with the Army. Crude mortality rate was not significantly different by SCT status, although deaths due to suicide, self-directed violence, and other non-specific causes were more common in SCT-positive service members. Conclusion: We found that SCT-positive service members deployed more frequently, for greater lengths of time, and remained in service longer. No significant difference in crude mortality ratio was discovered. Additional research on military-relevant outcomes and a cost-effectiveness analysis of SCT screening practices are needed to inform evidence-based SCT enlistment policies.


Assuntos
Militares/estatística & dados numéricos , Traço Falciforme/complicações , Adolescente , Adulto , Estudos de Coortes , Grupos de Populações Continentais/estatística & dados numéricos , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Traço Falciforme/epidemiologia , Traço Falciforme/mortalidade , Fatores de Tempo , Estados Unidos/epidemiologia , Guerra/estatística & dados numéricos
17.
Mil Med ; 183(7-8): e310-e317, 2018 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-29415213

RESUMO

Introduction: A number of studies have found an association between sickle cell trait (SCT) and exertional heat illnesses (EHIs) including heat stroke, a potentially fatal condition. The strength of this association varied across studies, limiting the ability to quantify potential benefits of SCT-screening policies for competitive athletics and military service members. We determined the relative rate and attributable risk of developing EHI associated with being SCT positive and the EHI health care utilization. Methods: We conducted a retrospective cohort study among U.S. enlisted, active duty service members during 1992-2012 from the Department of Defense Military Healthcare System databases. All 15,081 SCT-positive individuals and a sample of 60,320 from those considered SCT negative were followed through 2013 for EHI outcomes ranging from mild heat illness to heat stroke. Results: The adjusted hazard ratio for EHI in SCT-positive compared with SCT-negative individuals was 1.24 (95% confidence interval 1.06, 1.45). Risk factors for EHI included age over 30 yr at enlistment, female gender, Marine Corps, combat occupations, and enlistment between April and June. An estimated 216 Department of Defense enlistees (95% confidence interval: 147, 370) would need to be screened to identify and potentially prevent one case of EHI. The attributable risk of EHI due to SCT was 33% (95% confidence interval 19, 45%). Conclusion: Our findings suggest that SCT screening will identify approximately a third of SCT individuals at risk for EHI, but does not provide definitive evidence for universal compared with selective (e.g., occupational based) in military enlistees. A cost-effectiveness analysis is needed for policy makers to assess the overall value of universal SCT screening to prevent morbidity and mortality in both the military and the collegiate athletic populations.


Assuntos
Transtornos de Estresse por Calor/etiologia , Militares/estatística & dados numéricos , Traço Falciforme/complicações , Adolescente , Adulto , Estudos de Coortes , Feminino , Transtornos de Estresse por Calor/epidemiologia , Temperatura Alta/efeitos adversos , Humanos , Masculino , Militares/educação , Esforço Físico/fisiologia , Estudos Retrospectivos , Fatores de Risco , Traço Falciforme/epidemiologia , Ensino/estatística & dados numéricos , Estados Unidos
18.
Oral Dis ; 24(3): 393-403, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28833998

RESUMO

OBJECTIVE: To estimate the association between sickle cell anaemia and trait with dental and jaw bone abnormalities. SUBJECTS AND METHODS: Subjects (n = 369) were allocated to three groups: sickle cell anaemia, trait and control. Dental shape, number, size and position and changes in pulp chamber, root and periapex were analysed by intra-oral periapical radiographs. Integrity of lamina dura, quality of cancellous bone and bone trabeculation were also evaluated. Prevalence ratios (PR) were calculated (α = 0.05). RESULTS: Sickle cell anaemia had higher prevalence (PR:8.31) and number of teeth (PR:13.40) with external resorption; higher number of teeth with pulp calcification; partial and total loss of lamina dura; and higher prevalence of changes in trabecular structure of maxilla (PR:6.45) and mandible (PR:5.34). Sickle cell trait showed higher prevalence (PR:1.26) and higher number of teeth (PR:1.98) with partial loss of lamina dura; higher number of teeth with hypercementosis, changes in shape, size, periapex, total loss of lamina dura; and higher prevalence of changes in mandibular trabecular bone (PR:1.43). CONCLUSION: Pulp calcification and external resorption of the root were the most frequent dental alterations in sickle cell anaemia group, while in trait was higher frequency of changes in shape, size, periapex and root. Jaw bone changes were most prevalent in both homozygous and heterozygous subjects.


Assuntos
Anemia Falciforme/epidemiologia , Anormalidades Maxilomandibulares/epidemiologia , Anormalidades Dentárias/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Calcificações da Polpa Dentária/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Reabsorção da Raiz/epidemiologia , Traço Falciforme/epidemiologia , Adulto Jovem
19.
Pan Afr Med J ; 31: 113, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-31037173

RESUMO

Introduction: sickle cell disease and HIV infection are prevalent in sub-Saharan Africa. While Haemoglobin S (HbS) contributes to significant morbidity and mortality in the homozygous or double heterozygous states, in the carrier state it confers a survival advantage in disease conditions such as malaria. However the interaction between sickle haemoglobin and HIV infection, especially in children remains largely unknown. This study aimed to assess the prevalence and impact of sickle cell trait on the clinical and laboratory parameters of HIV infected children in Lagos, Nigeria. Methods: a cross-sectional study among HIV infected children in an HIV treatment centre in Lagos, Nigeria. Socio-demographic and clinical characteristics were obtained and blood sample collected for haemoglobin electrophoresis, HIV RNA viral load and haematologic profile. Data was analysed with SPSS version 20. Results: the prevalence of sickle cell trait was 18.8% among the 208 study participants, with none having sickle cell disease (SCD). Participants with SCT were significantly younger (OR = 4.0 95% CI (1.74-9.24)), more likely to be from the Yoruba ethnic group (OR = 3.3 95% CI [1.45-7.52)), had more opportunistic infections (OR = 2.4 95% CI (1.18-5.03), and lower mean HIV RNA viral load (p = 0.05) at baseline. However response to HIV care and treatment was similar in both groups of participants. Conclusion: the finding of absence of SCD, low prevalence of SCT, and lower HIV viraemia in HIV infected children with SCT may have implications for childhood survival which requires further clarification in future studies.


Assuntos
Infecções por HIV/epidemiologia , Hemoglobina Falciforme/metabolismo , Traço Falciforme/epidemiologia , Carga Viral , Adolescente , Fármacos Anti-HIV/administração & dosagem , Criança , Pré-Escolar , Estudos Transversais , Feminino , Infecções por HIV/tratamento farmacológico , Infecções por HIV/virologia , Humanos , Lactente , Masculino , Nigéria/epidemiologia , Prevalência , RNA Viral/sangue
20.
Cien Saude Colet ; 22(11): 3773-3780, 2017 Nov.
Artigo em Português | MEDLINE | ID: mdl-29211182

RESUMO

Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC). A questionnaire was applied related to gender, ethnicity and consanguinity. Of the samples analyzed, 5.4% had AS sickle cell trait, while SS and SC sickle cell anemia showed a rate of 0.8%, with AC, AD and DD hemoglobin. Of the 1,069 Afro-descendants, 84 revealed hemoglobin abnormalities, 34 being male 53 being female. There were 13 consanguineous marriages among the 84 hemoglobin alterations. The study of hemoglobin variants in 15 former quilombo communities in the state of Piaui contributes to their education in health in the aspects of genetic inheritance of hemoglobin, a relevant public health issue, providing input for the implementation of the State Program of Sickle Cell Disease of Piaui.


Assuntos
Anemia Falciforme/epidemiologia , Grupos Étnicos/genética , Hemoglobinas/genética , Traço Falciforme/epidemiologia , Grupo com Ancestrais do Continente Africano/genética , Substituição de Aminoácidos/genética , Anemia Falciforme/genética , Brasil/epidemiologia , Cromatografia Líquida de Alta Pressão/métodos , Consanguinidade , Feminino , Frequência do Gene , Variação Genética , Humanos , Masculino , Prevalência , Traço Falciforme/genética , Inquéritos e Questionários
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA