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1.
Cancer Nurs ; 44(1): E53-E61, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-31743153

RESUMO

BACKGROUND: The experiences of African American adult patients before, during, and after acute care utilization are not well characterized for individuals with sickle cell disease (SCD) or cancer. OBJECTIVE: To describe the experiences of African Americans with SCD or cancer before, during, and after hospitalization for pain control. METHODS: We conducted a qualitative study among African American participants with SCD (n = 15; 11 male; mean age, 32.7 ± 10.9 years; mean pain intensity, 7.8 ± 2.6) or cancer (n = 15; 7 male; mean age, 53.7 ± 15.2 years; mean pain intensity, 4.9 ± 3.7). Participants completed demographic questions and pain intensity using PAINReportIt and responded to a 7-item open-ended interview, which was recorded and transcribed verbatim. We used content analysis to identify themes in the participants' responses. RESULTS: Themes identified included reason for admission, hospital experiences, and discharge expectations. Pain was the primary reason for admission for participants with SCD (n = 15) and for most participants with cancer (n = 10). Participants of both groups indicated that they experienced delayed treatment and a lack of communication. Participants with SCD also reported accusations of drug-seeking behavior, perceived mistreatment, and feeling of not being heard or believed. Participants from both groups verbalized concerns about well-being after discharge and hopeful expectations. CONCLUSIONS: Race-concordant participants with SCD but not with cancer communicated perceived bias from healthcare providers. IMPLICATIONS FOR PRACTICE: Practice change interventions are needed to improve patient-provider interactions, reduce implicit bias, and increase mutual trust, as well as facilitate more effective pain control, especially for those who with SCD.


Assuntos
Anemia Falciforme/etnologia , Atitude Frente a Saúde/etnologia , Negro ou Afro-Americano/psicologia , Neoplasias/etnologia , Adulto , Negro ou Afro-Americano/estatística & dados numéricos , Idoso , Anemia Falciforme/terapia , Viés , Comunicação , Feminino , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/terapia , Manejo da Dor , Relações Médico-Paciente , Pesquisa Qualitativa , Adulto Jovem
2.
Ann Hematol ; 99(10): 2279-2288, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32772141

RESUMO

Sickle cell disease (SCD) is a monogenic disease characterized by multisystem morbidity and highly variable clinical course. Inter-individual variability in hemoglobin F (HbF) levels is one of the main modifiers that account for the clinical heterogeneity in SCD. HbF levels are affected by, among other factors, single nucleotide polymorphisms (SNPs) at the BCL11A gene and the HBS1L-MYB intergenic region and Xmn1 gene. Our aim was to investigate HbF-enhancer haplotypes at these loci to obtain a first overview of the genetic situation of SCD patients in Egypt and its impact on the severity of the disease. The study included 100 SCD patients and 100 matched controls. Genotyping of BCL11A (rs1886868 C/T), HBS1L-MYB (rs9389268 A/G) and Xmn1 γG158 (rs7842144 C/T) SNPs showed no statistically significant difference between SCD patients and controls except for the hetero-mutant genotypes of BCL11A which was significantly higher in SCD patients compared with controls. Baseline HbF levels were significantly higher in those with co-inheritance of polymorphic genotypes of BCL11A + HSB1L-MYB and BCL11A + Xmn1. Steady-state HbF levels, used as an indicator of disease severity, were significantly higher in SCD-Sß patients having the polymorphic genotypes of HSB1L-MYB. Fold change of HbF in both patient groups did not differ between those harboring the wild and the polymorphic genotypes of the studied SNPs. In conclusion, BCL11A, HSB1L, and Xmn1 genetic polymorphisms had no positive impact on baseline HbF levels solely but had if coexisted. Discovery of the molecular mechanisms controlling HbF production could provide a more effective strategy for HbF induction.


Assuntos
Anemia Falciforme/genética , DNA Intergênico/genética , Hemoglobina Fetal/análise , Proteínas de Ligação ao GTP/genética , Genes myb , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas/genética , Proteínas Repressoras/genética , gama-Globinas/genética , Adolescente , Alelos , Anemia Falciforme/sangue , Anemia Falciforme/etnologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Desoxirribonucleases de Sítio Específico do Tipo II , Egito , Feminino , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Polimorfismo de Fragmento de Restrição , Adulto Jovem
3.
Public Health Rep ; 134(6): 599-607, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31600481

RESUMO

Sickle cell disease (SCD) is an inherited blood disorder most common among African American and Hispanic American persons. The disease can cause substantial, long-term, and costly health problems, including infections, stroke, and kidney failure, many of which can reduce life expectancy. Disparities in receiving health care among African Americans and other racial/ethnic minority groups in the United States are well known and directly related to poor outcomes associated with SCD. As an orphan disease-one that affects <200 000 persons nationwide-SCD does not receive the research funding and pharmaceutical investment directed to other orphan diseases. For example, cystic fibrosis affects fewer than half the number of persons but receives 3.5 times the funding from the National Institutes of Health and 440 times the funding from national foundations. In this review, we discuss the health inequities affecting persons with SCD, describe programs intended to improve their care, and identify actions that could be taken to further reduce these inequities, improve care, control treatment costs, and ease the burden of disease.


Assuntos
Anemia Falciforme/complicações , Anemia Falciforme/terapia , Negro ou Afro-Americano/estatística & dados numéricos , Acessibilidade aos Serviços de Saúde , Disparidades em Assistência à Saúde/etnologia , Hispânico ou Latino/estatística & dados numéricos , Anemia Falciforme/etnologia , Custos de Cuidados de Saúde , Humanos , Cobertura do Seguro/estatística & dados numéricos , Estados Unidos
4.
Rev. méd. Chile ; 146(11): 1347-1350, nov. 2018.
Artigo em Espanhol | LILACS | ID: biblio-985709

RESUMO

Sickle cell anemia was a rare disease in Chile, especially in adults, however the recent immigration wave from Haiti is changing this scenario. We report a 29 year old black female from Haiti with a non-disclosed history of sickle cell anemia. She was transfused with two units of red blood cells, found unconscious and with jaundice five days later and admitted to the hospital. On admission she had a hemoglobin of 3.3 g/dL, a total bilirubin of 5.08 mg/dL, a LDH of 1,306 Ui/L. She was transfused again, worsening her condition. An alloimmunization and delayed hemolytic reaction was suspected. A direct Coombs test was positive. She was treated with steroids and her serum hemoglobin rose progressively.


Assuntos
Humanos , Feminino , Adulto , Transfusão de Eritrócitos/efeitos adversos , Reação Transfusional/etiologia , Anemia Falciforme/terapia , Chile , Resultado do Tratamento , Reação Transfusional/terapia , Haiti/etnologia , Anemia Falciforme/complicações , Anemia Falciforme/etnologia
5.
Pediatr Blood Cancer ; 65(9): e27105, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29693782

RESUMO

Hematopoietic stem cell transplantation (HSCT) is a curative therapy for patients with phenotypically severe sickle cell anemia, and survival rates following matched-sibling HSCT are very high. However, despite cure rates much higher than HSCT for malignant diseases, the field has been slow to adopt this treatment modality for sickle cell anemia. This article explores some of the social forces that may contribute to this dichotomy.


Assuntos
Anemia Falciforme/terapia , Diversidade Cultural , Acessibilidade aos Serviços de Saúde , Disparidades em Assistência à Saúde , Transplante de Células-Tronco Hematopoéticas , Estudantes de Medicina/estatística & dados numéricos , Negro ou Afro-Americano , Anemia Falciforme/etnologia , Atitude , Feminino , Disparidades em Assistência à Saúde/etnologia , Transplante de Células-Tronco Hematopoéticas/etnologia , Transplante de Células-Tronco Hematopoéticas/estatística & dados numéricos , Hispânico ou Latino , Humanos , Masculino , Política Organizacional , Preconceito , Faculdades de Medicina , Determinantes Sociais da Saúde
6.
Ethn Health ; 23(7): 813-829, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-28277026

RESUMO

OBJECTIVE: This study examined the meaning of sickle cell trait and sickle cell trait screening from the lay perspective of African Americans. DESIGN AND METHODS: African Americans (N = 300), ages 18-35 and unaware of their sickle cell trait status, completed two open-ended questions from a larger survey. One question asked for their understanding of sickle cell trait; the other asked for their understanding of sickle cell trait screening. Content analysis occurred in two phases: (1) In vivo and holistic coding; and (2) focused coding. RESULTS: Four categories emerged illustrating lay conceptions of sickle cell trait; (1) Perceived as an illness; (2) Perceived recognition of the inheritance pattern of sickle cell trait; (3) Perceived lack of knowledge of sickle cell trait; and (4) Perceived importance of sickle cell trait. Five categories emerged illustrating lay conceptions for sickle cell trait screening: (1) Perceived recognition that screening means getting tested for sickle cell trait; (2) Perceived lack of knowledge of sickle cell trait screening; (3) Perceived health benefit of sickle cell trait screening; (4) Perceived importance of sickle cell trait screening; and (5) Perceived barriers to sickle cell trait screening. CONCLUSIONS: Sickle cell trait and sickle cell trait screening are concepts that are both regarded as important among this high-risk population. However, there is still misunderstanding concerning the hereditary nature and reproductive implications of sickle cell trait. Interventions seeking to improve communication on the need for sickle cell trait screening should begin by identifying what the population at large understands, knows and/or believes to improve their ability to make informed health decisions.


Assuntos
Anemia Falciforme/etnologia , Negro ou Afro-Americano/estatística & dados numéricos , Conhecimentos, Atitudes e Prática em Saúde , Programas de Rastreamento/métodos , Saúde Reprodutiva/etnologia , Traço Falciforme/genética , Adulto , Anemia Falciforme/epidemiologia , Tomada de Decisões , Feminino , Humanos , Indiana , Masculino , Inquéritos e Questionários
7.
Pediatr Hematol Oncol ; 35(7-8): 373-384, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30785354

RESUMO

INTRODUCTION: Sickle cell disease (SCD) is an inherited, multi-system, chronic disease with the highest prevalence affecting people of Sub-Saharan African descent. While major advances in SCD care have occurred over the last few decades in many African countries these advances are not readily available. Prior literature from Ghana and Kenya describe stigma, despair, and economic burden as well as hope when a child has SCD. When people migrate to North America with a child with SCD it is unknown whether their perception of the disease changes. We asked, "How do immigrant parents of children with SCD from Sub-Saharan Africa perceive, and manage the disease in the context of western medical care?" METHODS: The research question was explored with qualitative methodology, specifically focused ethnography. Semi-structured interviews were conducted with parent(s). The interviews were audio recorded, transcribed, and open coded. Rigor was determined through methodological coherence, appropriate and sufficient sampling, and iterative data collection and analysis. RESULTS: Twelve interviews were conducted. Identified themes are as follows: memories of SCD in Africa, the emotional journey towards acceptance, and parental approach to care for their child. CONCLUSIONS: Healthcare providers should be responsive to an immigrant families' needs and not expect linear progression of emotional acceptance to the diagnosis. Healthcare providers patience with the process helps establish trust, works to facilitate and encourage hope and acknowledges the strength of the families, and their dedication to their family member. Healthcare providers should acknowledge parents' sources of support (religion/family) and ensure parents are aware of medical advances.


Assuntos
Anemia Falciforme/etnologia , Anemia Falciforme/genética , Emigração e Imigração , África Subsaariana/etnologia , Canadá/etnologia , Feminino , Humanos , Masculino
8.
In. Rodríguez, Elizabeth. Programa Afrosalud. Montevideo, Intendencia de Montevideo,, [2018?]. p.57-71, ilus.
Monografia em Espanhol | LILACS, UY-BNMED, BNUY | ID: biblio-1352395
9.
HLA ; 90(4): 211-218, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28731588

RESUMO

Hematopoietic stem-cell transplantation (HSCT) is currently the only established curative treatment for sickle cell disease (SCD), but is limited by donor availability. Ethnicity is thought to have an impact on the complications experienced by patients that undergo HSCT and on the likelihood of identifying an human leukocyte antigen (HLA) matched donor. In the present study, we investigated the genomic ancestry and the distribution of HLA allele groups in Brazilian patients with SCD, compared these HLA profiles to worldwide populations and evaluate the availability of HLA-matched donors. A broad intercontinental admixture of patients with SCD was observed, with African ancestry ranging from 6.7% to 93.4%. In a dendrogram based on HLA frequencies, Brazilian patients with SCD were included in a branch containing only populations with a significant African component. Among the 126 patients evaluated, 10 (8%) found a HLA-matched unrelated donor in a database of 18 134 donors. Self-reported white, brown and black matched donors were identified, and no significant difference in the percentage of compatible donors was observed between these ethnic groups. Our results show that Brazilian patients with SCD are very admixed, indicating that this group is a promising target for admixture mapping of genes involved in complications after HSCT. Additional studies may help to clarify the impact of the genetic diversity and admixture of these patients on the donor availability.


Assuntos
Anemia Falciforme/etnologia , Anemia Falciforme/genética , Frequência do Gene , Antígenos HLA/genética , Transplante de Células-Tronco Hematopoéticas , Doadores não Relacionados , Adulto , Alelos , Anemia Falciforme/imunologia , Anemia Falciforme/terapia , Povo Asiático/genética , População Negra/genética , Brasil , Seleção do Doador , Feminino , Expressão Gênica , Variação Genética , Antígenos HLA/classificação , Antígenos HLA/imunologia , Teste de Histocompatibilidade , Humanos , Masculino , Filogenia , Filogeografia , Transplante Homólogo , População Branca/genética
10.
J Pediatr Hematol Oncol ; 37(8): 595-9, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26422283

RESUMO

BACKGROUND: Hemoglobinopathies are associated with significant morbidity and mortality. Accurate epidemiologic data reflecting the number of hemoglobinopathy patients are lacking in Canada. Immigration patterns are shifting such that regions where these diseases were rare are seeing a rapid population expansion, revealing a gap in the health care system and the need for a public health response. METHODS: To understand the epidemiology of pediatric hemoglobinopathy patients given the provincial population growth and immigration patterns, a retrospective chart review was conducted at the Stollery Children's Hospital from January 2004 to July 2014. RESULTS: A total of 88% of patients had sickle cell disease; 55% of patients were Canadian born and 63% of families originated from Africa. There was a 3.5-fold increase in patient numbers with acceleration in patient accrual over the study period and a delay in diagnosis in 70% of patients. There was a significant increase in the number of hospitalizations over the study period. Thirteen percent required at least 1 exchange transfusion, 16% received chronic transfusions, and 30% of patients developed at least 1 severe complication related to their diagnosis. CONCLUSIONS: It is imperative to demonstrate the growing hemoglobinopathy population and changing health care requirements to advocate for appropriate resources, educate health care providers, and increase awareness.


Assuntos
Anemia Falciforme/epidemiologia , Talassemia/epidemiologia , Síndrome Torácica Aguda/epidemiologia , Síndrome Torácica Aguda/etiologia , Adolescente , África/etnologia , Alberta/epidemiologia , Anemia Falciforme/complicações , Anemia Falciforme/etnologia , Anemia Falciforme/terapia , Ásia/etnologia , Transfusão de Sangue/estatística & dados numéricos , Região do Caribe/etnologia , Criança , Pré-Escolar , Emigrantes e Imigrantes/estatística & dados numéricos , Feminino , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Recursos em Saúde/provisão & distribuição , Recursos em Saúde/tendências , Necessidades e Demandas de Serviços de Saúde , Hematologia/organização & administração , Hospitalização/estatística & dados numéricos , Hospitais Pediátricos/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Sobrecarga de Ferro/epidemiologia , Sobrecarga de Ferro/etiologia , Masculino , Morbidade/tendências , Ambulatório Hospitalar/estatística & dados numéricos , Estudos Retrospectivos , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/etiologia , Talassemia/complicações , Talassemia/etnologia , Talassemia/terapia , Reação Transfusional
11.
J Health Care Poor Underserved ; 26(3): 648-61, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26320901

RESUMO

Sickle Cell Disease (SCD) is a burdensome and prevalent condition predominantly seen in populations of African heritage. Treatments for SCD, particularly those related to pain crisis, are largely insufficient. We argue that it is through structural violence-a systemic series of policies, institutions, and practices-that individuals who live with SCD suffer from health disparities. Similarly, we argue against other suggested mechanisms and causes, such as purely economic factors or low public interest and knowledge. We shall do this in part by comparing the systemic response to SCD to that of Cystic Fibrosis (CF), another genetic based illness with similar prevalence. Notably, CF that affects a very different target population, and has very different research, funding, and treatment trajectories. Underlying these arguments is the hypothesis that structural violence can harm a population in a developed nation just as it can in a developing one.


Assuntos
Anemia Falciforme/etnologia , Negro ou Afro-Americano , Disparidades em Assistência à Saúde/etnologia , Violência , Anemia Falciforme/terapia , Pesquisa Biomédica , Criança , Fibrose Cística/epidemiologia , Fibrose Cística/terapia , Humanos , Apoio à Pesquisa como Assunto , Estados Unidos/epidemiologia
12.
Biomédica (Bogotá) ; 35(3): 437-443, jul.-sep. 2015. tab
Artigo em Inglês | LILACS | ID: lil-765472

RESUMO

Introduction: Fetal hemoglobin is an important factor in modulating the severity of sickle cell anemia. Its level in peripheral blood underlies strong genetic determination. Associated loci with increased levels of fetal hemoglobin display population-specific allele frequencies. Objective: We investigated the presence and effect of known common genetic variants promoting fetal hemoglobin persistence (rs11886868, rs9399137, rs4895441, and rs7482144) in 60 Colombian patients with sickle cell anemia. Materials and methods: Four single nucleotide polymorphisms (SNP) were genotyped by restriction fragment length polymorphisms (RFLP) and the use of the TaqMan procedure. Fetal hemoglobin (HbF) from these patients was quantified using the oxyhemoglobin alkaline denaturation technique. Genotype frequencies were compared with frequencies reported in global reference populations. Results: We detected genetic variants in the four SNPs, reported to be associated with higher HbF levels for all four SNPs in the Colombian patients. Genetic association between SNPs and HbF levels did not reach statistical significance. The frequency of these variants reflected the specific ethnic make-up of our patient population: A high prevalence of rs7482144-'A' reflects the West-African origin of the sickle cell mutation, while high frequencies of rs4895441-'G' and rs11886868-'C' point to a significant influence of an Amerindian ethnic background in the Colombian sickle cell disease population. Conclusion: These results showed that in the sickle cell disease population in Colombia there is not a unique genetic background, but two (African and Amerindian). This unique genetic situation will provide opportunities for a further study of these loci, such as fine-mapping and molecular-biological investigation. Colombian patients are expected to yield a distinctive insight into the effect of modifier loci in sickle cell disease.


Introducción. La hemoglobina fetal es un importante factor modulador de la gravedad de la anemia falciforme, cuya expresión está muy condicionada por el factor genético. Los loci asociados con el incremento de la hemoglobina fetal pueden presentar frecuencias alélicas específicas para cada población. Objetivo. Investigar la presencia y el efecto de las variantes genéticas rs11886868, rs9399137, rs4895441 y rs7482144 asociadas con la persistencia de hemoglobina fetal, en 60 pacientes colombianos con anemia falciforme. Materiales y métodos. Se hizo la genotipificación de los polimorfismos de nucleótido simple ( Single Nucleotide Polymorphisms, SNP) mediante la técnica de polimorfismos de longitud de fragmentos de restricción ( Restriction Fragment Length Polymorphisms, RFLP) y el procedimiento TaqMan. La hemoglobina fetal (HbF) se cuantificó utilizando la técnica de desnaturalización alcalina de la oxihemoglobina. Las frecuencias genotípicas se compararon con las reportadas en poblaciones de referencia global. Resultados. Se observaron variantes genéticas ya reportadas para aumento de HbF en los cuatro SNP. La asociación genética entre los SNP y el incremento de la HbF no alcanzó significancia estadística. La frecuencia de estos alelos reflejó la siguiente composición específica en esta muestra de pacientes colombianos: una gran prevalencia de rs7482144-'A', lo que indica que el origen de la mutación para la anemia falciforme es África occidental, y una gran frecuencia de rs4895441-'G' y rs11886868-'C', lo que denota la influencia significativa del origen genético amerindio. Conclusión. Los resultados evidenciaron que la población con anemia falciforme de Colombia no tiene un único origen genético, sino que existen dos (africano y amerindio). Esta situación genética única ofrece la oportunidad de llevar a cabo un estudio más amplio de estos loci a nivel molecular. Se espera que el estudio de pacientes colombianos permita una visión diferente del efecto de los loci modificadores en esta enfermedad.


Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Hemoglobina Fetal/genética , Proteínas Nucleares/genética , Etnicidade/genética , Proteínas de Transporte/genética , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas/genética , gama-Globinas/genética , Anemia Falciforme/genética , Proteínas Repressoras , Senegal/etnologia , Serra Leoa/etnologia , Polimorfismo de Fragmento de Restrição , Indígenas Sul-Americanos/genética , Colômbia/epidemiologia , Negro ou Afro-Americano/genética , Genótipo , Anemia Falciforme/sangue , Anemia Falciforme/etnologia
13.
Braz. oral res. (Online) ; 29(1): 1-7, 2015. tab, ilus
Artigo em Inglês | LILACS | ID: lil-777164

RESUMO

The aim of this study was to investigate possible associations between sickle cell anemia (SCA) and the severity of dental malocclusion (MO). This was a retrospective cohort study of 93 individuals with SCA (G1) and 186 individuals without the disease (G2). SCA patients were randomly selected by a simple draw from patients treated in the Centro de Hematologia e Hemoterapia do Maranhão (HEMOMAR) in northeastern Brazil. Patients aged between 16 and 60 were included after being tested for the hemoglobin S gene. G2 consisted of individuals living in the same residence as the patients. The Dental Aesthetic Index (DAI), as well as some morphological deviations not included in DAI, were used for the orthodontic evaluation of MO. Poisson regression with robust variance adjustment was employed to estimate relative risk (RR). In the multivariate analysis, SCA was associated with moderate (RR = 1.36) and very severe MO (RR = 8.0). SCA is correlated with anterior tooth loss (RR = 1.94), anterior spacing (RR = 1.66), overjet (RR = 1.87), anterior crossbite (RR = 1.94), and open bite (RR = 1.94). Thus, SCA is a risk factor for moderate and very severe MO.


Assuntos
Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Anemia Falciforme/complicações , Má Oclusão/etiologia , Anemia Falciforme/etnologia , Anemia Falciforme/fisiopatologia , Brasil/etnologia , Estudos de Casos e Controles , Má Oclusão/etnologia , Má Oclusão/fisiopatologia , Distribuição de Poisson , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Fatores Socioeconômicos , Estatísticas não Paramétricas , Perda de Dente/complicações
14.
BMC Pregnancy Childbirth ; 14: 356, 2014 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-25311876

RESUMO

BACKGROUND: Although obstetrician/gynecologists (OB/GYNs) play an important role in sickle cell disease (SCD) screening and patient care, there is little information on knowledge of SCD or sickle cell trait (SCT) or related practices in this provider group. Our objective was to assess SCD screening and prenatal management practices among OB/GYNs. METHODS: Twelve hundred Fellows and Junior Fellows of the American College of Obstetricians and Gynecologists (the College)a were invited to complete a mailed survey, of which half (n = 600) belonged to the Collaborative Ambulatory Research Network.b Participants answered questions regarding appropriate target patient groups for prenatal SCD screening, folic acid requirements, practice behaviors and adequacy of their medical school and residency training. RESULTS: A total of 338 CARN members (56.3%) and 165 non-CARN members (27.5%) returned a survey. Of the 503 responders, 382 provided obstetric services and were included in the analyses. Forty percent of these respondents (n = 153) reported seeing at least 1 patient with SCD in the last year. Of these, 97.4% reported regularly screening people of African descent for SCD or SCT, whereas 52.9% reported regularly screening people of Mediterranean descent and 30.1% reported regularly screening people of Asian descent. Only 56.2% knew the correct recommended daily dose of folic acid for pregnant women with SCD. The proportion of respondents that rated training on SCD screening, assessment and treatment as barely adequate or inadequate ranged from 19.7% to 39.3%. CONCLUSIONS: The practice of many OB/GYNs who care for patients with SCD are not consistent with the College Practice Guidelines on the screening of certain target groups and on folic acid supplementation. There may be an opportunity to improve this knowledge gap through enhanced medical education.


Assuntos
Anemia Falciforme/diagnóstico , Competência Clínica , Ginecologia , Obstetrícia , Complicações Hematológicas na Gravidez/diagnóstico , África/etnologia , Anemia Falciforme/tratamento farmacológico , Anemia Falciforme/etnologia , Ásia/etnologia , Educação Médica/normas , Bolsas de Estudo , Feminino , Ácido Fólico/uso terapêutico , Ginecologia/educação , Humanos , Masculino , Programas de Rastreamento , Região do Mediterrâneo/etnologia , Pessoa de Meia-Idade , Obstetrícia/educação , Gravidez , Complicações Hematológicas na Gravidez/tratamento farmacológico , Complicações Hematológicas na Gravidez/etnologia , Traço Falciforme/diagnóstico , Traço Falciforme/etnologia , Complexo Vitamínico B/uso terapêutico
15.
Bone Marrow Transplant ; 49(11): 1376-81, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25068420

RESUMO

Sickle cell anemia (SCA) remains associated with high risks of morbidity and early death. Allogeneic hematopoietic SCT (HSCT) is the only curative treatment for SCA. We report our experience with transplantation in a group of patients with the non-Black African variant and the Black African variant of SCA. This study included 40 consecutive SCA patients (13 patients with the non-Black African variant and 27 with the Black African variant) who underwent BM transplantation from HLA-identical sibling donors between June 2004 and May 2013, following a myeloablative-conditioning regimen. All patients obtained sustained engraftment. One patient (non-Black African variant) became a stable mixed chimera with 25% donor cells more than 6 years after transplantation. The probabilities of survival, SCA-free survival and TRM at 5 years after transplant were 91%, 91% and 9%, respectively. All surviving patients remained free of any SCA-related events after transplantation. Our results confirm that it is possible to offer a greater than 90% chance of cure to children with SCA. HSCT should be considered the standard of care for who have an HLA-identical donor, before complications result from the sickling of RBC.


Assuntos
Anemia Falciforme/terapia , População Negra , Transplante de Células-Tronco Hematopoéticas , Adolescente , Adulto , Aloenxertos , Anemia Falciforme/etnologia , Anemia Falciforme/mortalidade , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Estudos Retrospectivos , Irmãos , Taxa de Sobrevida
16.
J. bras. patol. med. lab ; 50(2): 98-99, Mar-Apr/2014.
Artigo em Inglês | LILACS | ID: lil-712711

RESUMO

Introduction:Sickle cell disease (SCD) is a hereditary, hematologic, multifactorial disease, with high prevalence worldwide; its cause is a mutation in the sixth codon of the beta globin gene (βs).Objective: To identify the haplotypes present in people with SCD in Amapá, and relate them to African descent. Methods: We analyzed, by molecular techniques, 46 blood samples from people with SCD in Macapá, the capital of Amapá, with the purpose of obtaining information about haplotype frequency distribution, which helps understand the ethnic background of Amapá's population. Results: Our study revealed that the most frequent haplotype is Bantu (61.2%), followed by Benin (26.6%) and Senegal (12.2%). Results showed statistical differences from studies conducted in other regions. A high frequency of the Senegal haplotype stands out, in comparison with some Brazilian studies. Conclusion: Amapá's results exhibit unique characteristics when compared to haplotypes in other regions, with high frequency of Senegal and Benin haplotypes, absence of atypical, Cameroon and Saudi, confirming that Brazil shows ethnic background diversity, as well as different haplotype frequencies...


Introdução: A doença falciforme é uma doença hereditária, hematológica, de caráter multifatorial, com alta prevalência mundial; sua causa é a mutação no sexto códon do gene da globina beta (βs). Objetivo:Identificar os haplótipos presentes em indivíduos com doença falciforme no Amapá e relacioná-los com a origem afrodescendente. Método: Foram analisadas por meio de técnicas moleculares 46 amostras de sangue de indivíduos com doença falciforme de Macapá, capital do Amapá, com a finalidade de fornecer informações sobre a distribuição das frequências dos haplótipos, contribuindo para o entendimento da formação étnica da população amapaense. Resultados: Nosso estudo revelou que o mais frequente é o haplótipo Bantu (61,2%), seguido de Benin (26,6%) e Senegal (12,2%). Nossos resultados apresentaram diferenças estatísticas em relação a estudos realizados em outras regiões, destacando-se que o presente estudo mostra uma frequência elevada do haplótipo Senegal quando comparado com alguns estudos brasileiros. Conclusão: Os resultados amapaenses apresentam características únicas quando relacionados com os haplótipos de outras regiões, com alta frequência de Senegal e Benin, ausência de atípicos, Camarões e Saudi, confirmando que o Brasil apresenta diversidade de origens étnicas, bem como diferentes frequências de haplótipos...


Assuntos
Humanos , Anemia Falciforme/etnologia , População Negra/etnologia , Haplótipos/genética , Anemia Falciforme/sangue , População Negra/genética
17.
J Environ Public Health ; 2013: 680631, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23606864

RESUMO

This study examined the prevalence of high blood pressure, heart disease, and medical diagnoses in relation to blood disorders, among 6,329 adolescent students (age 15 to 18 years) who reside in the United Arab Emirates (UAE). Findings indicated that the overall prevalence of high blood pressure and heart disease was 1.8% and 1.3%, respectively. Overall, the prevalence for thalassemia, sickle-cell anemia, and iron-deficiency anemia was 0.9%, 1.6%, and 5%, respectively. Bivariate analysis revealed statistically significant differences in the prevalence of high blood pressure among the local and expatriate adolescent population in the Emirate of Sharjah. Similarly, statistically significant differences in the prevalence of iron-deficiency anemia were observed among the local and expatriate population in Abu Dhabi city, the western region of Abu Dhabi, and Al-Ain. Multivariate analysis revealed the following significant predictors of high blood pressure: residing in proximity to industry, nonconventional substance abuse, and age when smoking or exposure to smoking began. Ethnicity was a significant predictor of heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia. In addition, predictors of thalassemia included gender (female) and participating in physical activity. Participants diagnosed with sickle-cell anemia and iron-deficiency anemia were more likely to experience different physical activities.


Assuntos
Anemia Ferropriva/epidemiologia , Anemia Falciforme/epidemiologia , Cardiopatias/epidemiologia , Hipertensão/epidemiologia , Talassemia/epidemiologia , Adolescente , Anemia Ferropriva/etnologia , Anemia Falciforme/etnologia , Feminino , Cardiopatias/etnologia , Humanos , Hipertensão/etnologia , Estilo de Vida , Masculino , Prevalência , Características de Residência , Fatores de Risco , Fatores Sexuais , Talassemia/etnologia , Emirados Árabes Unidos/epidemiologia
18.
J Pediatr Hematol Oncol ; 35(4): 289-98, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23612380

RESUMO

African Americans and Blacks have low participation rates in clinical trials and reduced access to aggressive medical therapies. Hematopoietic cell transplantation (HCT) is a high-risk but potentially curative therapy for sickle cell disease (SCD), a disorder predominantly seen in African Americans. We conducted focus groups to better understand participation barriers to HCT clinical trials for SCD. Nine focus groups of youth with SCD (n=10) and parents (n=41) were conducted at 3 sites representing the Midwest, South Atlantic, and West South Central US. Main barriers to clinical trial participation included gaps in knowledge about SCD, limited access to SCD/HCT trial information, and mistrust of medical professionals. For education about SCD/HCT trials, participants highly preferred one-on-one interactions with medical professionals and electronic media as a supplement. Providers can engage with sickle cell camps to provide information on SCD/HCT clinical trials to youth and local health fairs for parents/families. Youth reported learning about SCD through computer games; investigators may find this medium useful for clinical trial/HCT education. African Americans affected by SCD face unique barriers to clinical trial participation and have unmet HCT clinical studies education needs. Greater recognition of these barriers will allow targeted interventions in this community to increase their access to HCT.


Assuntos
Anemia Falciforme/etnologia , Anemia Falciforme/cirurgia , Negro ou Afro-Americano , Ensaios Clínicos como Assunto , Acessibilidade aos Serviços de Saúde , Transplante de Células-Tronco Hematopoéticas , Adolescente , Adulto , Anemia Falciforme/psicologia , Criança , Pré-Escolar , Feminino , Grupos Focais , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Pais/psicologia
19.
Pediatr Blood Cancer ; 60(3): 451-4, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23023789

RESUMO

BACKGROUND: Health care disparities based on race have been reported in the management of many diseases. Our goal was to identify perceptions of race and racism among both staff and patients/families with particular attention to provider attitudes as a potential contributor to racial healthcare disparities. PROCEDURE: A confidential survey addressing issues of race and health care was given to all patients with sickle cell disease and their families upon arrival to clinic. The survey was made available online to all staff in the hematology/oncology program. Free text comments were obtained. RESULTS: We received completed surveys from 112 patients/families. Surveys were completed by 135 of 158 staff members (85% return rate). The majority (92.6%) of patients/families identified as black, while 94.1% of staff identified as white (P < 0.001). More patients/families felt that race affects the quality of health care for sickle cell patients (50% vs. 31.6%, P = 0.003). More staff perceived unequal treatment of patients, especially in the inpatient setting (20.9% vs. 10.9%, P = 0.03). CONCLUSIONS: Provider attitudes contribute to continued racial health care disparities. We propose training health care providers on issues of race and racism. Training should provide critical thinking tools for improving medical providers' comfort and skills in caring for patients who are of a different race than their own.


Assuntos
Anemia Falciforme/etnologia , Disparidades em Assistência à Saúde/etnologia , Recursos Humanos em Hospital , Racismo , Adolescente , Adulto , Criança , Família , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
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