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1.
Sports Health ; 12(3): 241-245, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32271134

RESUMO

BACKGROUND: Sickle cell trait (SCT) has been associated with an increased risk of sudden death in athletes during strenuous exercise. In August 2010, the National Collegiate Athletic Association (NCAA) began requiring athletes to be screened for SCT, provide proof of SCT status, or sign a waiver and launched an educational campaign for athletes, coaches, and medical staff. The impact of this program is unknown. The purpose of this study was to determine the incidence of death associated with sickle cell trait (daSCT) in NCAA athletes before and after legislation. HYPOTHESIS: NCAA SCT legislation will decrease the incidence of daSCT. STUDY DESIGN: Observational study. LEVEL OF EVIDENCE: Level 2. METHODS: A database of NCAA athlete deaths from 2000 to 2019 was reviewed for daSCT. A total of 8,309,050 athlete-years (AY) were included. Incidence of death was calculated before and after legislation. RESULTS: The incidence of daSCT in Division I (DI) football athletes before legislation (n = 9) was 1:28,145 AY and after legislation (n = 1) was 1:250,468 AY (relative risk [RR], 0.112; 95% CI, 0.003-0.811; P = 0.022), an 89% reduction in risk after legislation was enacted. The incidence of daSCT in African American DI football athletes before legislation (n = 9) was 1:12,519 AY and after legislation (n = 1) was 1:118,464 AY (RR, 0.106; 95% CI, 0.002-0.763; P = 0.017), also an 89% risk reduction after legislation was enacted. For all NCAA athletes, the incidence of daSCT was 1:489,749 AY before legislation (n = 10) and 1:1,705,780 AY after legislation (n = 2) (RR, 0.288; 95% CI, 0.031-1.347; P = 0.146). CONCLUSION: The incidence of daSCT in DI football athletes has decreased significantly since legislation was enacted. Cases of daSCT outside of football are rare. It is unclear whether the decrease is related to screening for SCT, education, or both. CLINICAL RELEVANCE: This is the first evidence that NCAA SCT legislation may save lives.


Assuntos
Morte Súbita/epidemiologia , Testes Obrigatórios/legislação & jurisprudência , Traço Falciforme/complicações , Traço Falciforme/diagnóstico , Esportes/legislação & jurisprudência , Adolescente , Morte Súbita/prevenção & controle , Humanos , Incidência , Masculino , Estados Unidos/epidemiologia , Adulto Jovem
3.
Arch Physiol Biochem ; 126(2): 166-171, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-30145922

RESUMO

We hypothesised that TG/HDL-C ratio and PAI-1 would be associated with high pulse pressure (PP) in young adults with sickle cell trait (SCT) and sickle cell disease (SCD). We compared the clinical, biochemical, and cardiometabolic parameters among individuals with normal genotype (HbAA; n = 60), SCT (HbAS; n = 60), and SCD (HbSS; n = 60), all in steady state. Using multivariate linear regression analysis, high PP was positively related to TG/HDL-C ratio in SCT (ß = 0.307; p = .014) and PAI-1 (ß = 0.499; p = .001) in SCD. The curve of receiver operating characteristic also showed that TG/HDL-C ratio and PAI-1 are efficient predictors of high PP in SCT carriers and SCD patients, respectively. This study suggests that increased levels of TG/HDL-C ratio and PAI-1 may be salient risk factors that would promote the development of arterial stiffness and other CVD in SCT carriers and SCD patients.


Assuntos
Pressão Sanguínea , HDL-Colesterol/sangue , Doença da Hemoglobina SC/diagnóstico , Inibidor 1 de Ativador de Plasminogênio/sangue , Traço Falciforme/diagnóstico , Triglicerídeos/sangue , Adolescente , Adulto , Biomarcadores/sangue , Feminino , Hemoglobina A/metabolismo , Doença da Hemoglobina SC/sangue , Hemoglobina Falciforme/metabolismo , Humanos , Modelos Lineares , Masculino , Curva ROC , Traço Falciforme/sangue
4.
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
6.
J Genet Couns ; 28(4): 812-821, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30969464

RESUMO

Benefits of identifying sickle cell disease (SCD) carriers include detection of at-risk couples who may be informed on reproductive choices. Studies consistently report insufficient knowledge about the genetic inheritance pattern of SCD among people with sickle cell trait (SCT). This study explored perspectives of adults with SCT on the information needed to make an informed reproductive decision and the recommendations for communicating SCT information. Five focus groups (N = 25) were conducted with African Americans with SCT ages 18-65 years old. Participants were asked about their knowledge of SCT, methods for finding information on SCT, impact of SCT on daily living, and interactions with healthcare providers. An inductive-deductive qualitative analysis was used to analyze the data for emerging themes. Four themes emerged, highlighting the unmet information needs of African American sickle cell carriers: (a) SCT and SCD Education; (b) information sources; (c) improved communication about SCT and SCD; and (d) increased screening strategies. Future studies are needed to determine effective strategies for communicating SCT information and to identify opportunities for education within community and medical settings. Identifying strategies to facilitate access to SCT resources and education could serve as a model for meeting unmet information needs for carriers of other genetic conditions.


Assuntos
Anemia Falciforme/genética , Triagem de Portadores Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Traço Falciforme/diagnóstico , Adolescente , Adulto , Afro-Americanos/genética , Idoso , Anemia Falciforme/diagnóstico , Tomada de Decisões , Feminino , Grupos Focais , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Adulto Jovem
7.
Crit Care Nurs Q ; 42(2): 198-201, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30807345

RESUMO

Sickle cell disease and sickle cell trait are identified through universal newborn screening, which has been implemented in all hospitals across the United States since the 1970s. Yet, studies report that only 16% of Americans with sickle cell trait know their status. Despite these striking statistics, there appears to be no standardized methods for reporting positive sickle cell trait results of newborn screening to doctors or families of affected persons. This article will demonstrate how current literature supports the gaps in knowledge of trait status and its implications as well as knowledge deficit of inheritance patterns of prospective parents. The article will also elucidate how knowledge deficit in this subject adversely affects primary prevention strategies including genetic counseling. Primary prevention of sickle cell disease is a public health area that can be championed by registered nurses who have the tools and experiences to effectively handle case management and patient education.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Papel do Profissional de Enfermagem , Traço Falciforme/diagnóstico , Traço Falciforme/genética , Anemia Falciforme/etnologia , Anemia Falciforme/genética , Feminino , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Pais/educação , Estudos Prospectivos , Estados Unidos
9.
Pan Afr Med J ; 34: 110, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31934252

RESUMO

We report a case of acute thoracic syndrome diagnosed in a Congolese pregnant woman in whom sickle-cell trait was detected after admission to hospital for fever and respiratory symptoms. Paraclinical examinations performed to detect the cause of the disease were unhelpful. Chest X-ray showed infiltrates at the base of the lungs. Sickle SCAN test kit confirmed by liquid chromatography associated with mass spectrometry showed that the patient had sickle cell trait Symptoms were quite refractory to treatment. A favorable outcome was observed after expulsion of the fetus. Clinicians should suspect acute thoracic syndrome in pregnant women with sickle-cell trait because outcome can be favorable in the postpartum period.


Assuntos
Pneumopatias/diagnóstico por imagem , Complicações na Gravidez/diagnóstico , Traço Falciforme/diagnóstico , Doença Aguda , Adulto , Feminino , Humanos , Gravidez , Complicações na Gravidez/fisiopatologia , Síndrome
11.
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
12.
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
16.
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
17.
J Natl Med Assoc ; 110(6): 564-573, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30129496

RESUMO

OBJECTIVE: To describe the perspectives and experiences of athletic trainers, coaches, and student-athletes approximately three years post-implementation of the NCAA sickle cell trait (SCT) screening policy. PARTICIPANTS: Two-hundred and eight student-athletes, 32 athletic trainers, and 43 coaches from 10 NCAA Division I (DI) institutions in North Carolina from January to June 2014. METHODS: Two online surveys were used to assess knowledge, perspectives, and experiences. RESULTS: Athletic staff were more supportive than student-athletes of the need for the policy. Noted challenges included variation in implementation and follow-up for SCT-positive athletes, financial costs to institutions and athletes, and timing of the screening. CONCLUSIONS: More education about SCT is needed for student-athletes and athletic staff in order to help make the implementation more successful. All parties need to be in agreement regarding the importance of knowing which student-athletes have SCT and how that information will be utilized.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Traço Falciforme/diagnóstico , Esportes , Universidades , Adolescente , Adulto , Atletas/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Política Organizacional , Organizações sem Fins Lucrativos , Desenvolvimento de Programas , Traço Falciforme/economia , Estudantes/psicologia , Inquéritos e Questionários , Universidades/economia , Adulto Jovem
18.
J Perinatol ; 38(7): 797-803, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29961762

RESUMO

OBJECTIVE: It has been shown that hemoglobinopathies increase the risk of pregnancy complications and placental dysfunction. This could alter the placental analytes examined during prenatal aneuploidy screening. Our objective was to determine whether there is a difference in maternal serum screening results for women with hemoglobin S variants (AS, SS, SC, S/beta thalassemia) compared with women with normal hemoglobin (AA). STUDY DESIGN: This is a retrospective cohort study in African-American women receiving aneuploidy screening at MedStar Washington Hospital Center from 2008 to 2015. We evaluated 79 women with hemoglobin S variants (69 AS and 10 sickle cell disease (SCD)) and 79 controls. Descriptive statistics (means, medians, and frequencies) were calculated for each group. For the continuous variables, differences in the averages between the two groups were tested using the t test or Wilcoxon rank sum test. Differences in the averages between three or more groups were tested using the analysis of variance test or the Kruskal-Wallis test. RESULTS: Demographics were similar between cases and controls. The overall screen positive rate for Down syndrome among patients with sickle cell trait (AS) was 3% (2/69). For patients with SCD, the overall screen positive rate was 10% (1/10). None of the women in the control population (AA) has a positive Down syndrome screening result (0/79). CONCLUSION: As expected, the screen positive rate in patients with hemoglobin S variants was higher than controls, however, patients with sickle cell trait do not appear to be at an increased risk for false-positive results with serum aneuploidy screening compared with the general population. We did, however, find an increased risk of false-positive quad screen results in patients with sickle cell disease.


Assuntos
Afro-Americanos/genética , Aneuploidia , Complicações Hematológicas na Gravidez/epidemiologia , Diagnóstico Pré-Natal/métodos , Traço Falciforme/diagnóstico , Traço Falciforme/etnologia , Centros Médicos Acadêmicos , Adulto , Estudos de Casos e Controles , District of Columbia , Reações Falso-Positivas , Feminino , Hemoglobina Falciforme/classificação , Hospitais com Alto Volume de Atendimentos , Humanos , Incidência , Gravidez , Complicações Hematológicas na Gravidez/sangue , Resultado da Gravidez , Gravidez de Alto Risco , Prognóstico , Valores de Referência , Estudos Retrospectivos , Medição de Risco
19.
BMC Nephrol ; 19(1): 133, 2018 06 08.
Artigo em Inglês | MEDLINE | ID: mdl-29884120

RESUMO

BACKGROUND: Sickle cell trait is not completely benign, and some renal complications can occur. The baseline rate of admission for gross hematuria in normal males carrying the sickle cell trait is 2%. CASE PRESENTATION: A 35-year-old non-smoking African man experienced a 2-week history of painless, profuse and persistent gross hematuria. Laboratory tests showed normal renal function, hematuria and mild proteinuria. Abdominal ultrasonography and computed tomography angiography revealed no renal abnormalities; the bladder appeared pristine under cystoscopy. The diagnosis of sickle cell trait associated with gross hematuria was made using hemoglobin electrophoresis; renal biopsy and its complications were avoided. Urine was clear after 2 weeks of oral hydration and gamma epsilon-aminocaproic acid. CONCLUSION: Hemoglobin electrophoresis should be performed in cases of gross hematuria. Coupled with other non-invasive evaluation, this could avoid renal biopsy and its associated complications.


Assuntos
Hematúria/diagnóstico , Hematúria/urina , Nefrologistas , Traço Falciforme/diagnóstico , Traço Falciforme/urina , Adulto , Ácido Aminocaproico/administração & dosagem , Hematúria/tratamento farmacológico , Humanos , Masculino , Traço Falciforme/tratamento farmacológico
20.
Am J Clin Pathol ; 150(2): 105-115, 2018 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-29850781

RESUMO

Objectives: We evaluated the effect of diabetes on sickle hemoglobin (HbS) measurement on two common clinical hemoglobin separation platforms. Methods: We performed a method comparison between the Bio-Rad Variant II high-performance liquid chromatography (HPLC) and Sebia Capillarys 2 Flex Piercing capillary electrophoresis (CE) using clinical specimens from 38 patients without hemoglobin variants and 57 patients with sickle cell trait (AS) (HbA1c%, 4.1%-15.4%). We investigated the effect of intermethod Hb% differences on result interpretation by a panel of expert clinical observers. Results: In diabetic specimens, HPLC undermeasured HbS% up to 7.4% vs CE, due to S1c eluting closely with A0 in HPLC. This increased concern for underlying α-thalassemia in diabetic patients with AS based on HPLC results. HPLC P2% was linearly related to HbA1c% and can be a screen for diabetic AS samples. Conclusions: Glycosylation can interfere with HbS% measurement by HPLC. Susceptible specimens should be identified and preferentially analyzed via CE.


Assuntos
Diabetes Mellitus Tipo 2/complicações , Hemoglobina Falciforme/análise , Traço Falciforme/sangue , Traço Falciforme/complicações , Traço Falciforme/diagnóstico , Adulto , Cromatografia Líquida de Alta Pressão/métodos , Diabetes Mellitus Tipo 2/sangue , Eletroforese Capilar/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
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