RESUMEN
Sickle cell disease (SCD) is a worldwide genetic blood disorder. Roughly 400,000 babies are born with SCD each year worldwide. More than 75% of these births occur in sub-Saharan Africa. The establishment of sustainable newborn screening NBS programs is an excellent approach to improving the health of persons living with SCD. The need to set up such programs in Africa cannot be overemphasized. However, initial implementation does not guarantee sustainability. More than 500 children with sickle cell anaemia (SCA) die every day due to lack of access to early diagnosis and related treatment. We systematically highlighted suggestions proffered so far, for the sustainability of NBS in low income, high burden countries. We searched online databases, PubMed, and Google Scholar for literature on sustainability of newborn screening (NBS) published between 2012 and 2022. Articles were included if they reported as outcome; sustainability, government participation, scaling up and expansion of NBS, improved patient enrolment in the newborn screening programe. Articles not suggesting same were excluded. Data were extracted from published reports. Primary outcome was government participation and enhanced patient enrolment in the NBS programe. Thematic content analysis was applied using inductive and deductive codes. We came up with 9 major themes. This study is registered with PROSPERO with registration number as CRD42023381821. Literature search yielded 918 articles (including manual searching). After screening, nine (9) publications were suitable for data extraction and analysis. Two more articles were added by manual searching, making a total of eleven (11) articles. The most frequently addressed core elements of sustainability in these papers were complete integration of services into national health care systems for sustainability of NBS programs in Low-income high-burden countries, funding and engagement from government partners from the very beginning of program development should be prioritized. Screening should be tailored to the local context; using DBS on HemoTypeSC could be a game changer for scaling up and expanding the newborn screening program in Sub-Saharan Africa.
Asunto(s)
Anemia de Células Falciformes , Tamizaje Neonatal , Humanos , Tamizaje Neonatal/métodos , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Recién Nacido , Países en Desarrollo , África del Sur del Sahara/epidemiologíaRESUMEN
Objectives: This study aimed to determine the health-related quality of life (HRQoL) of adult Omani patients with sickle cell disease (SCD). The quality of life of these patients in Oman is unknown. Methods: This cross-sectional study was conducted at the Sultan Qaboos University Hospital, Muscat, Oman, from June to October 2022 and included patients with SCD. A validated Arabic version of the 36-Item Short-Form Health Survey (SF-36) was used to assess HRQoL in 8 domains. Results: A total of 235 patients with SCD were included in this study, the majority of whom were female (74.9%) and between 18 and 35 years of age (64.6%). The lowest HRQoL was reported for the domain of role limitations due to physical health (median score = 25.0, interquartile range [IQR] = 35.0), while the highest was seen for role limitations due to emotional problems (median score = 66.7, IQR = 100.0). Frequent SCD-related emergency department visits/hospital admissions and the adverse effect of SCD on patients' social lives had a significant negative impact on SF-36 scores for all 8 HRQoL domains (P ≤0.05). Additionally, SCD's impact on academic performance and a history of having been bullied due to SCD had a significant negative impact on SF-36 scores for 7 domains (P ≤0.05). Conclusion: Omani adult patients with SCD reported relatively poor HRQoL in several domains, with various factors found to be significantly associated with this. Healthcare providers and policy makers should consider offering additional clinical, educational and financial support to these patients to enhance their HRQoL.
Asunto(s)
Anemia de Células Falciformes , Hospitales Universitarios , Calidad de Vida , Humanos , Calidad de Vida/psicología , Anemia de Células Falciformes/psicología , Anemia de Células Falciformes/epidemiología , Omán/epidemiología , Masculino , Femenino , Adulto , Estudios Transversales , Adolescente , Hospitales Universitarios/estadística & datos numéricos , Encuestas y Cuestionarios , Adulto Joven , Persona de Mediana EdadRESUMEN
Sickle cell diseases (SCD) are the most common genetic disorders with significant morbidity and mortality worldwide, including in India. The high prevalence of this disorder in many geographical regions calls for the use of a point-of-care rapid diagnostic test (RDT) for early screening and management of the diagnosed cases to reduce the allied clinical severity. In view of this, the present study was undertaken for the validation of a point-of-care RDT kit (SICKLECHECKTM) for the screening of SCD. This validation and diagnostic accuracy study was conducted among the cases advised for screening of SCD. For validation, all the recruited cases were investigated for both the SICKLECHECKTM RDT kit and HPLC (Variant-II) considering HPLC as a gold standard. A total of 400 cases were screened for both tests. For the presence and absence of sickle cell hemoglobin in the samples, SICKLECHECKTM RDT kit results showed a sensitivity and specificity of 99.39% and 98.73% respectively with references to HPLC findings. For the detection of the 'AS' pattern, the SICKLECHECKTM RDT kit has shown a sensitivity and specificity of 99.07% and 98.81% respectively. For the detection of the 'SS' pattern, the SICKLECHECKTM RDT kit has shown a sensitivity and specificity of 97.92% and 100.0% respectively. Cases with ß thalassemia trait, hemoglobin E trait, hemoglobin Lepore trait and trait for hereditary-persistence-of-fetal-hemoglobin (high HbF %) diagnosed in HPLC were resulted with 'AA' pattern in SICKLECHECKTM RDT kit. The high sensitivity and specificity of the SICKLECHECKTM RDT kit insist on its use as a point-of-care screening tool for SCD especially where there is a lack of laboratory facilities as well as in hospital-based set-up requiring immediate diagnosis and management of SCD. However, for further confirmation, the samples should be analyzed with other gold standard techniques like HPLC.
Asunto(s)
Anemia de Células Falciformes , Prueba de Diagnóstico Rápido , Juego de Reactivos para Diagnóstico , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Adulto Joven , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/sangre , Cromatografía Líquida de Alta Presión/métodos , Hemoglobina Falciforme/análisis , Hemoglobina Falciforme/genética , Tamizaje Masivo/métodos , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Sexually transmitted infections (STIs) are common and disproportionately affect Black adolescents and young adults (AYAs). Less is known about STIs among Black AYAs with chronic conditions, such as sickle cell disease (AYAs-SCD). This study compared STI testing and diagnosis between AYAs-SCD and their peers, overall and among STI-related encounters. PROCEDURE: This retrospective, cross-sectional study used diagnosis and billing codes in the Pediatric Health Information System (PHIS) to identify inpatient and emergency department encounters from January 1, 2022 to May 31, 2023 among all AYAs 15-24 years and those with STI-related diagnoses (e.g., "cystitis"). STI testing and diagnosis rates were compared between AYAs-SCD, non-Black AYAs, and Black AYAs, controlling for age, sex, and encounter setting. RESULTS: We identified 3602 AYAs-SCD, 177,783 Black AYAs, and 534,495 non-Black AYAs. AYAs-SCD were less likely to be tested for STIs than non-Black AYAs (odds ratio [OR] = 0.26; adj. p < .001) and Black AYAs (OR = 0.53; adj. p < .001). When tested, AYAs-SCD were more likely to be diagnosed with an STI than non-Black AYAs (OR = 2.39; adj. p = .006) and as likely as Black AYAs (OR = 0.67; adj. p = .15). Among STI-related encounters, AYAs-SCD were less likely to be tested than non-Black AYAs (OR = 0.18; adj. p < .001) and Black AYAs (OR = 0.44; adj. p < .001). No significant differences in STI diagnoses were found in this subset between AYAs-SCD and non-Black AYAs (OR = 0.32; adj. p = .28) or Black AYAs (OR = 1.07; adj. p = .99). CONCLUSIONS: STI care gaps may disproportionately affect AYAs-SCD. STIs should be considered when evaluating symptomatic AYAs-SCD in acute settings. More research is needed to further contextualize STI care for AYAs-SCD.
Asunto(s)
Anemia de Células Falciformes , Enfermedades de Transmisión Sexual , Humanos , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Adolescente , Enfermedades de Transmisión Sexual/diagnóstico , Enfermedades de Transmisión Sexual/epidemiología , Masculino , Femenino , Estudios Retrospectivos , Estudios Transversales , Adulto Joven , Adulto , Negro o Afroamericano/estadística & datos numéricos , Estudios de SeguimientoRESUMEN
PURPOSE: Sickle cell disease (SCD) affects all organ systems and is characterized by numerous acute and chronic complications and comorbidities. Standardized codes are needed for complications/comorbidities used in real-world evidence (RWE) studies that rely on administrative and medical coding. This systematic literature review was conducted to produce a comprehensive list of complications/comorbidities associated with SCD, along with their diagnosis codes used in RWE studies. METHODS: A search in MEDLINE and Embase identified studies published from 2016 to 2023. Studies were included if they were conducted in US SCD populations and reported complications/comorbidities and respective International Classification of Diseases, Clinical Modification (ICD-CM) codes. All identified complications/comorbidities and codes were reviewed by a certified medical coding expert and hematologist. RESULTS: Of 1851 identified studies, 39 studies were included. The most reported complications/comorbidities were stroke, acute chest syndrome, pulmonary embolism, venous thromboembolism, and vaso-occlusive crisis. Most of the studies used ICD-9-CM codes (n = 21), while some studies used ICD-10-CM codes (n = 3) or both (n = 15), depending on the study period. Most codes reported in literature were heterogeneous across complications/comorbidities. The medical coding expert and hematologist recommended modifications for several conditions. CONCLUSION: While many studies we identified did not report their codes and were excluded from this review, the studies with codes exhibited diverse coding definitions. By providing a standardized set of diagnosis codes that were reported by studies and reviewed by a coding expert and hematologist, our review can serve as a foundation for accurately identifying complications/comorbidities in future research, and may reduce heterogeneity, enhance transparency, and improve reproducibility. Future efforts focused on validating these code lists are needed.
Asunto(s)
Anemia de Células Falciformes , Codificación Clínica , Clasificación Internacional de Enfermedades , Humanos , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/diagnóstico , Codificación Clínica/normas , Comorbilidad , Clasificación Internacional de Enfermedades/normasRESUMEN
BACKGROUND: Pulmonary complications are common among children with sickle cell disease (SCD). However, there is little literature on associated lung function abnormalities in Uganda. We aimed to determine the prevalence, patterns, and factors associated with abnormal lung function among children with SCD in a tertiary care hospital in Uganda. METHOD: A cross-sectional study was conducted among children aged 6 to 18 years at the SCD clinic (SCC) of Mulago National Super-Specialized Hospital between January 2020 and April 2021. Data on sociodemographic and clinical characteristics was collected using a standardized questionnaire. Laboratory investigations, including a complete blood count and serum lactate dehydrogenase (LDH), were done. Spirometry was performed following the ATS/ERS standards. Multivariable modified Poisson regression analysis was performed to determine factors associated with abnormal lung function. RESULTS: A total of 332 participants were enrolled. The mean age was 11.7 ± 3.4 years, and 184 (55.4%) were female. Overall, 126 (37.9%) participants had abnormal lung function: 67/126 (53.2%) restrictive, 57/126 (45.2%) obstructive, and 2/126 (1.6%) mixed-ventilatory patterns. Factors associated with abnormal lung function were; serum LDH level > 600UL (aIRR: 1.89 95% CI: 1.2 - 7.4, p = 0.049), a history of acute chest syndrome (aIRR: 1.55, 95% CI: 1.06-2.25, p = 0.024), wasting (aIRR: 1.33, 95%CI: 1.02 - 1.72, p = 0.032), and use of charcoal for household cooking (aIRR: 1.49, 95% CI: 1.03-2.15, p = 0.035). CONCLUSION: More than one-third of children with SCD in Uganda have lung function abnormalities. Strategies to improve nutrition, reduce exposure to charcoal smoke, and monitoring serum LDH levels may be important in preventing or managing abnormal lung function in this population. The identification of reversible and irreversible airway obstruction in children with sickle cell disease also highlights the need for targeted interventions to address these specific patterns of abnormal lung function.
Asunto(s)
Anemia de Células Falciformes , Humanos , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/fisiopatología , Uganda/epidemiología , Niño , Femenino , Masculino , Estudios Transversales , Adolescente , Prevalencia , Enfermedades Pulmonares/epidemiología , Enfermedades Pulmonares/etiología , Enfermedades Pulmonares/fisiopatología , Factores de Riesgo , Pruebas de Función Respiratoria , EspirometríaRESUMEN
While the coronavirus disease-2019 (COVID-19) might have increased acute episodes in people living with sickle cell disease (SCD), it may also have changed their reliance on emergency department (ED) services. We assessed the impact of the COVID-19 pandemic and lockdowns on ED visits in adult SCD people followed in five French reference centres, with a special focus on 'high users' (≥10 visits in 2019). We analysed the rate of ED visits from 1 January 2015 to 31 December 2021, using a self-controlled case series. Among 1530 people (17 829 ED visits), we observed a significant reduction in ED visits during and after lockdowns, but the effect vanished over time. Compared to pre-pandemic, incidence rate ratios for ED visits were 0.59 [95% CI 0.52-0.67] for the first lockdown, 0.66 [95% CI 0.58-0.75] for the second and 0.85 [95% CI 0.73-0.99] for the third. High users (4% of people but 33.7% of visits) mainly drove the reductions after the first lockdown. COVID-19 lockdowns were associated with reduced ED visits. While most people returned to their baseline utilization by April 2021, high users had a lasting decrease in ED visits. Understanding the factors driving the drop in ED utilization among high users might inform clinical practice and health policy.
Asunto(s)
Anemia de Células Falciformes , COVID-19 , Servicio de Urgencia en Hospital , SARS-CoV-2 , Humanos , COVID-19/epidemiología , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/terapia , Servicio de Urgencia en Hospital/estadística & datos numéricos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Francia/epidemiología , Pandemias , Estudios de Cohortes , Adulto Joven , Adolescente , Aceptación de la Atención de Salud/estadística & datos numéricosRESUMEN
BACKGROUND: Due to the numerous complications associated with sickle cell disease (SCD), patients often receive a variety of medications alongside their SCD treatment. However, a notable gap exists in the current literature regarding medication use patterns among them. This study aimed to investigate medication usage patterns in patients with SCD. RESEARCH DESIGN AND METHODS: This cross-sectional study, conducted in Bushehr Province, employed a stratified random sampling method to select eligible participants with SCD. A thorough interview gathered various information, including details about the medications. The Anatomical Therapeutic Chemical classification system was utilized for drug classification. Polypharmacy was defined as the concurrent use of at least five medications. RESULTS: A total of 300 individuals with SCD were included in this study. Polypharmacy was observed in 26.3% (95% CI: 20.8%-32.8%) of the study population. The analyses revealed positive associations between the use of more concurrent medication use and higher age groups and having multimorbidity. Antianemic preparations (86.7%), antineoplastic agents (58.3%), and vitamins (41.0%) were the most frequent medication classes used by the study participants. CONCLUSIONS: Our study revealed notable underutilization of hydroxyurea and a high rate of polypharmacy, associated with age and multimorbidity, among patients with SCD in southern Iran.
Asunto(s)
Anemia de Células Falciformes , Polifarmacia , Humanos , Anemia de Células Falciformes/tratamiento farmacológico , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Masculino , Femenino , Irán/epidemiología , Adulto , Estudios Transversales , Prevalencia , Adolescente , Persona de Mediana Edad , Adulto Joven , NiñoRESUMEN
People with sickle cell disease (SCD) often have emergency department (ED) revisits. The characteristics of people with SCD with ED revisits were assessed in this study using Medicaid administrative claims data from California and Georgia, representing 2794 and 3641 individuals with SCD, respectively. In both states, those with 6+ primary care provider (PCP) encounters had the highest percentage of ED revisits. In California, those with 6+ hematology encounters had the lowest percentage of individuals with an ED revisit; in Georgia, those with 1-2 hematology encounters. Increasing access to hematologic care may reduce ED revisits among people with SCD.
Asunto(s)
Anemia de Células Falciformes , Servicio de Urgencia en Hospital , Humanos , Anemia de Células Falciformes/terapia , Anemia de Células Falciformes/epidemiología , Servicio de Urgencia en Hospital/estadística & datos numéricos , Masculino , Femenino , Adolescente , Niño , Adulto , Preescolar , Adulto Joven , Georgia/epidemiología , Lactante , California/epidemiología , Estados Unidos/epidemiología , Readmisión del Paciente/estadística & datos numéricos , Medicaid/estadística & datos numéricos , Persona de Mediana Edad , Recién NacidoRESUMEN
BACKGROUND: The COVID-19 pandemic disproportionately affected persons with underlying medical conditions. SARS-CoV-2 infection susceptibility and vaccine effectiveness in pediatric hematology-oncology patients were unknown. METHODS: From February to July 2022, anti-spike and anti-nucleocapsid Ig were assayed in 354 pediatric hematology-oncology subjects, including 53 oncology patients receiving chemotherapy (cancer), 150 patients with sickle cell disease (SCD), and 151 benign consult and long-term follow-up patients (controls). Participants completed a questionnaire. RESULTS: Frequencies of COVID-19 infection, defined by positive PCR/antigen test or anti-nucleocapsid Ig, were 62% in cancer, 71% in SCD, 52% in controls, with SCD statistically different than controls (p = .001). Infection was associated with COVID-19 exposure, Hispanic/Latino or Black/African American ethnicity, multi-family dwelling, sports participation; COVID-19 booster decreased association with infection. In COVID-19-positive cancer patients, 58% had positive anti-nucleocapsid and 76% had positive anti-spike (≥10 U/mL), compared to essentially 100% seroconversion in SCD and controls (p < .0001, p = .01, respectively). Infection led to high anti-spike (≥2500 U/mL) in 12% cancer, 14% SCD, and 15% controls (p = .93). Vaccination resulted in anti-spike positivity in 90% cancer, 100% SCD, and 100% controls (p = .06), and in high anti-spike in 20% cancer, 47% SCD, and 41% controls (p = .36). Of boosted subjects, one of two cancer, 6/6 SCD, and 19/19 controls exhibited high anti-spike. CONCLUSIONS: Cancer patients demonstrated similar SARS-CoV-2 infection frequency as controls, but diminished antibody response to infection and vaccination. SCD patients exhibited seroconversion indistinguishable from controls. Vaccination was associated with higher frequency of high anti-spike than infection; vaccination plus booster was most effective in eliciting high anti-spike antibody detectable beyond 90 days.
Asunto(s)
Anticuerpos Antivirales , COVID-19 , SARS-CoV-2 , Humanos , COVID-19/epidemiología , COVID-19/inmunología , COVID-19/prevención & control , Niño , Masculino , Femenino , SARS-CoV-2/inmunología , Adolescente , Preescolar , Estudios Seroepidemiológicos , Anticuerpos Antivirales/sangre , Neoplasias/inmunología , Neoplasias/tratamiento farmacológico , Neoplasias/epidemiología , Neoplasias/sangre , Lactante , Anemia de Células Falciformes/inmunología , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/sangre , Adulto Joven , Neoplasias Hematológicas/inmunología , Neoplasias Hematológicas/epidemiología , Estudios de Seguimiento , Vacunas contra la COVID-19/administración & dosificación , Vacunas contra la COVID-19/inmunologíaRESUMEN
This study examined associations between emergency department (ED) visits and social vulnerability index (SVI) among Michigan's population with sickle cell disease (SCD) using data from the Michigan Sickle Cell Data Collection program (n = 3658 in 2018). SVI was higher among census tracts where people with SCD resided (mean SVI = 0.67; SD = 0.27) compared to census tracts without SCD residents (mean SVI = 0.39; SD = 0.25; p < .001). For children with SCD, for every 0.1 increase in SVI score, the number of ED visits increased by 6% (IRR = 1.061; SE = 0.03; p = .038). Future research should investigate the association between SVI and ED use, at the community and household levels, to elucidate strategies to reduce ED use among children with SCD.
Asunto(s)
Anemia de Células Falciformes , Servicio de Urgencia en Hospital , Vulnerabilidad Social , Humanos , Anemia de Células Falciformes/epidemiología , Servicio de Urgencia en Hospital/estadística & datos numéricos , Masculino , Femenino , Michigan/epidemiología , Adolescente , Niño , Preescolar , Adulto , Adulto Joven , Lactante , Estudios de Seguimiento , Persona de Mediana Edad , PronósticoRESUMEN
INTRODUCTION: Sickle cell disease (SCD) is a genetic disorder with a high infectious morbidity and mortality and a heterogeneous distribution in France. One of the challenges is to differentiate a bone and joint infection (BJI) from a vaso-occlusive crisis. This challenge is particularly prevalent in French Guiana, an overseas territory with the highest incidence of SCD in France. The aim of this study was to describe the epidemiology of BJI in children with SCD in French Guiana. METHOD: This was a retrospective multicentric descriptive study of SCD patients living in French Guiana aged under 18 and diagnosed with a BJI between 2010 and 2022. These BJI were divided into 2 groups: those with microbiological documentation (d-BJI) and those without microbiological identification (ud-BJI). RESULTS: A total of 53 episodes of BJI in 42 patients (mean age 7.2 years) were reported. Clinical symptoms on arrival were comparable between the d-BJI and ud-BJI groups. Patients in the d-BJI group had longer average hospital stays (40.4 days vs. 16.8 days, P = 0.01) and Salmonella spp. were the most identified bacteria (n = 8/13). White blood cell count was greater in the d-BJI group (30.3 G/L vs. 18.G/L, P = 0.01) and a collection was more frequently identified on imaging (11/13 vs. 16/40, P = 0.01) in this group. Initial in-hospital antibiotic therapy was longer in the d-BJI group (17.2 days vs. 12.8, P = 0.02), as were infection-related complications (9/13 vs. 12/40 P = 0.01). CONCLUSION: BJI in children with SCD is not sufficiently microbiologically documented. Progress must be made to improve the documentation of BJI.
Asunto(s)
Anemia de Células Falciformes , Humanos , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Guyana Francesa/epidemiología , Estudios Retrospectivos , Niño , Femenino , Masculino , Adolescente , Preescolar , Lactante , Artritis Infecciosa/microbiología , Artritis Infecciosa/epidemiología , Osteomielitis/epidemiología , Osteomielitis/microbiología , Antibacterianos/uso terapéuticoRESUMEN
BACKGROUND: Sickle cell disease (SCD) registries provide crucial real-world data on demographics, epidemiology, healthcare, patient outcomes, and treatment efficacy. This paper presents findings from the Indian SCD Registry (ISCDR) on clinical manifestations, crisis episodes, disease management, and healthcare utilization in patients with SCD from 12 primary health centres (PHCs) in six tribal districts of India. METHODS: The ISCDR was introduced along with a three-tier screening process. Its Android-based application incorporates two electronic case report forms for patient data collection over one year. This paper presents a year's data from the ISCDR's 324 patients with SCD. RESULTS: Patients with SCD, aged one to 65 years, exhibited varied clinical manifestations. Most patients (85.2 %) were unaware of their SCD status before enrolling in ISCDR. Moderate to severe anaemia was prevalent (66.05 % and 30.56 %, respectively). Pain was a common complaint (80.86 %; CI: 76.17-85.00), while symptoms of stroke included sudden severe headaches (34.57 %; CI: 29.40-40.02). Common splenic sequestration symptoms included stomach pain (42.90 %; CI: 37.44-48.49) and abdominal tenderness (13.27 %; CI: 9.77-17.46), as a sign. Healthcare utilization was high, with 96.30 % receiving treatment and 83.64 % consuming hydroxyurea. Hospitalization occurred for 38.27 % (CI: 32.95-43.81), and 12.04 % (CI: 8.70-16.09) had blood transfusion during last year. CONCLUSIONS: ISCDR serves as a dynamic digital database on SCD epidemiology, clinical aspects, treatment and healthcare utilization. Notably, many patients lacked prior awareness of their SCD status, underscoring the need for improved awareness and care management. Integrating the registry into the national programme can streamline treatment implementation, prioritize management approaches, and optimize individual benefits.
Asunto(s)
Anemia de Células Falciformes , Sistema de Registros , Humanos , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/terapia , Anemia de Células Falciformes/complicaciones , India/epidemiología , Adolescente , Adulto , Masculino , Femenino , Niño , Preescolar , Persona de Mediana Edad , Adulto Joven , Lactante , AncianoRESUMEN
Sickle cell lung disease presents a challenging care paradigm involving acute and chronic lower airway disease, sleep-disordered breathing, pulmonary vascular disease, and modification by environmental factors. Understanding the presentation, pathophysiology, and diagnostic approaches is essential for accurate identification and management. While significant progress has been made, there remains a need for research to develop effective treatments and interventions to decrease disease burden in these children. Additionally, the long-term impact of interventions on cardiopulmonary outcomes is unknown. Collaborative efforts among health care providers, researchers, advocacy groups, and policy makers are crucial to improving the lives of children with SCD.
Asunto(s)
Anemia de Células Falciformes , Enfermedades Pulmonares , Humanos , Anemia de Células Falciformes/terapia , Anemia de Células Falciformes/fisiopatología , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Niño , Enfermedades Pulmonares/diagnóstico , Enfermedades Pulmonares/terapia , Enfermedades Pulmonares/fisiopatología , Enfermedades Pulmonares/etiologíaRESUMEN
BACKGROUND: Chronic kidney disease (CKD) is a significant complication in patients with sickle cell disease (SCD), leading to increased mortality. OBJECTIVE: This study aims to investigate the burden of CKD in Medicaid-enrolled adults with SCD in California, examine differences in disease burden between male and female individuals, and assess mortality rates and access to specialized care. METHODS: This retrospective cohort study used the California Sickle Cell Data Collection program to identify and monitor individuals with SCD. Medicaid claims, vital records, emergency department, and hospitalization data from 2011 to 2020 were analyzed. CKD prevalence was assessed based on ICD (International Classification of Diseases) codes, and mortality rates were calculated. Access to specialized care was examined through outpatient encounter rates with hematologists and nephrologists. RESULTS: Among the 2345 adults with SCD, 24.4% (n=572) met the case definition for CKD. The SCD-CKD group was older at the beginning of this study (average age 44, SD 14 vs 34, SD 12.6 years) than the group without CKD. CKD prevalence increased with age, revealing significant disparities by sex. While the youngest (18-29 years) and oldest (>65 years) groups showed similar CKD prevalences between sexes (female: 12/111, 10.8% and male: 12/101, 11.9%; female: 74/147, 50.3% and male: 34/66, 51.5%, respectively), male individuals in the aged 30-59 years bracket exhibited significantly higher rates than female individuals (30-39 years: 49/294, 16.7%, P=.01; 40-49 years: 52/182, 28.6%, P=.02; and 50-59 years: 76/157,48.4%, P<.001). During this study, of the 2345 adults, 435 (18.5%) deaths occurred, predominantly within the SCD-CKD cohort (226/435, 39.5%). The median age at death was 53 (IQR 61-44) years for the SCD-CKD group compared to 43 (IQR 33-56) years for the SCD group, with male individuals in the SCD-CKD group showing significantly higher mortality rates (111/242, 45.9%; P=.009) than female individuals (115/330, 34.9%). Access to specialist care was notably limited: approximately half (281/572, 49.1%) of the SCD-CKD cohort had no hematologist visits, and 61.9% (354/572) did not see a nephrologist during this study's period. CONCLUSIONS: This study provides robust estimates of CKD prevalence and mortality among Medicaid-enrolled adults with SCD in California. The findings highlight the need for improved access to specialized care for this population and increased awareness of the high mortality risk and progression associated with CKD.
Asunto(s)
Anemia de Células Falciformes , Accesibilidad a los Servicios de Salud , Medicaid , Insuficiencia Renal Crónica , Humanos , Masculino , Femenino , California/epidemiología , Adulto , Estudios Retrospectivos , Medicaid/estadística & datos numéricos , Prevalencia , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/mortalidad , Persona de Mediana Edad , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/terapia , Insuficiencia Renal Crónica/mortalidad , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Estados Unidos/epidemiología , Estudios de Cohortes , Adulto Joven , AdolescenteRESUMEN
BACKGROUND: The emergency department (ED) is a vital source of healthcare for individuals living with sickle cell disease (SCD). Prior research indicates that during the COVID-19 pandemic some individuals with SCD avoided the ED for fear of acquiring COVID-19 or delayed visiting the ED by self-management of symptoms or pain crisis at home. The purpose of the current study was to understand ED utilization rates before and during the pandemic among individuals living with SCD. METHODS: We conducted a retrospective cohort study using population-based SCD surveillance systems in California, Georgia, Michigan, and Tennessee to assess the impact of the pandemic on ED utilization among people with SCD by (1) analyzing trends in monthly ED utilization from January 2019 - December 2020, with specific attention given to immediate changes at the onset of the pandemic; and (2) calculating changes in the volume of utilization by comparing the total ED visits made from March - December 2020 to the same period in 2019, both overall and by demographic characteristics. RESULTS: Across all states, a decline in ED utilization during the onset of the pandemic was seen, with the largest decline seen in those under age 10. By December 2020, utilization rates were higher than their lowest observed month of April 2020, but had not fully returned to pre-COVID levels. During the pandemic, ED visits in each state decreased by as much as 25%, and the number of people with any ED utilization decreased by as much as 26%. CONCLUSIONS: This study confirms and extends the existing literature related to the impact of the pandemic on healthcare utilization patterns in the US, in a unique population with increased healthcare needs.
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Anemia de Células Falciformes , COVID-19 , Servicio de Urgencia en Hospital , Humanos , Servicio de Urgencia en Hospital/estadística & datos numéricos , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/terapia , COVID-19/epidemiología , Estudios Retrospectivos , Femenino , Masculino , Adulto , Adolescente , Niño , Persona de Mediana Edad , Adulto Joven , Pandemias , Aceptación de la Atención de Salud/estadística & datos numéricos , SARS-CoV-2 , Estados Unidos/epidemiología , PreescolarRESUMEN
INTRODUCTION: There is a wide range of clinical manifestations in sickle cell disease (SCD). Despite having the same condition, each person's response to disease complications differs greatly. Individuals can be categorized according to the severity of their diseases to determine which group they fall into and receive the appropriate care based on their needs. The relationship between fetal hemoglobin (HbF), lactate dehydrogenase (LDH), and disease severity in Tanzania is little understood. This investigation sought to ascertain the relationship between HbF, LDH, and disease severity in SCD patients at the Bugando Medical Center. METHOD: This cross-sectional study was carried out on SCD patients aged 6 months and older at the Bugando Medical Center in Mwanza, Tanzania. A total of 130 SCD patients were enrolled. The clinical history and laboratory test results for SCD patients were recorded on a specially constructed patient report form. RESULTS: The majority of participants (56.9%) were men. For the population under study, more than half (60.8%) of participants had a moderate clinical phenotype (MCP), followed by 31.5% of asymptomatic participants and 7.7% of people with severe clinical phenotypes (SCP). Participants with SCP had substantially higher levels of LDH, with a mean level of 810.97IU/L (95% CI: 559.31-1062.64) and a p-value of 0.005. The severe clinical phenotype exhibited a significantly higher mean HbF score value of 10.09% (95% CI: 7.44-13.74%) with a p-value of 0.024 when compared to the asymptomatic and moderate clinical phenotypes. CONCLUSION: In SCD patients with SCP compared to ACP and MCP, the HbF levels were higher, but did not show a protective effects, and LDH can be used to predict the severity of SCD.
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Anemia de Células Falciformes , Hemoglobina Fetal , L-Lactato Deshidrogenasa , Índice de Severidad de la Enfermedad , Humanos , Hemoglobina Fetal/análisis , Hemoglobina Fetal/metabolismo , Anemia de Células Falciformes/sangre , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Masculino , Tanzanía/epidemiología , Femenino , L-Lactato Deshidrogenasa/sangre , Niño , Estudios Transversales , Preescolar , Adolescente , Adulto , Adulto Joven , Lactante , Persona de Mediana EdadRESUMEN
BACKGROUND: Sub-Saharan Africa bears the highest burden of sickle cell disease (SCD) globally with Nigeria, Democratic Republic of Congo, Tanzania, Uganda being the most affected countries. Uganda reports approximately 20,000 SCD births annually, constituting 6.67% of reported global SCD births. Despite this, there is a paucity of comprehensive data on SCD from the African continent. SCD registries offer a promising avenue for conducting prospective studies, elucidating disease severity patterns, and evaluating the intricate interplay of social, environmental, and genetic factors. This paper describes the establishment of the Sickle Pan Africa Research Consortium (SPARCo) Uganda registry, encompassing its design, development, data collection, and key insights learned, aligning with collaborative efforts in Nigeria, Tanzania, and Ghana SPARCo registries. METHODS: The registry was created using pre-existing case report forms harmonized from the SPARCo data dictionary and ontology to fit Uganda clinical needs. The case report forms were developed with SCD data elements of interest including demographics, consent, baseline, clinical, laboratory and others. That data was then parsed into a customized REDCap database, configured to suit the optimized ontologies and support retrieval aggregations and analyses. Patients were enrolled from one national referral and three regional referral hospitals in Uganda. RESULTS: A nationwide electronic patient-consented registry for SCD was established from four regional hospitals. A total of 5,655 patients were enrolled from Mulago National Referral Hospital (58%), Jinja Regional Referral (14.4%), Mbale Regional Referral (16.9%), and Lira Regional Referral (10.7%) hospitals between June 2022 and October 2023. CONCLUSION: Uganda has been able to develop a SCD registry consistent with data from Tanzania, Nigeria and Ghana. Our findings demonstrate that it's feasible to develop longitudinal SCD registries in sub-Saharan Africa. These registries will be crucial for facilitating a range of studies, including the analysis of SCD clinical phenotypes and patient outcomes, newborn screening, and evaluation of hydroxyurea use, among others. This initiative underscores the potential for developing comprehensive disease registries in resource-limited settings, fostering collaborative, data-driven research efforts aimed at addressing the multifaceted challenges of SCD in Africa.
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Anemia de Células Falciformes , Sistema de Registros , Humanos , Uganda , Anemia de Células Falciformes/epidemiología , Adolescente , Niño , Femenino , Masculino , Adulto , Adulto Joven , Preescolar , LactanteRESUMEN
Sickle cell disease (SCD) includes a group of heterogenous disorders that result in significant morbidities. HbSS is the most common type of SCD and HbSC is the second most common type of SCD. The prevalence of HbSC disease in the United States and United Kingdom is ~1 in 7174 births and 1 in 6174 births respectively. Despite its frequency, however, HbSC disease has been insufficiently studied and was historically categorized as a more 'mild' form of SCD. We conducted this study of HbSC disease as part of the NHLBI funded Sickle Cell Disease Implementation Consortium (SCDIC). The SCDIC registry included 2282 individuals with SCD, ages 15-45 years of whom 502 (22%) had HbSC disease. Compared with people with sickle cell anaemia (SCA), the study found that people with HbSC disease had a higher frequency of splenomegaly (n (%) = 169 (33.7) vs. 392 (22.1)) and retinopathy (n (%) = 116 (23.1) vs. 189 (10.6)). A Many people with HbSC also had avascular necrosis (n (%) = 112 (22.3)), pulmonary embolism (n (%) = 43 (8.6)) and acute chest syndrome (n (%) = 228 (45.4)) demonstrating significant disease severity. HbSC disease is more clinically severe than was previously recognized and deserves additional evaluation and targeted treatments.
Asunto(s)
Anemia de Células Falciformes , Humanos , Adolescente , Masculino , Femenino , Adulto , Persona de Mediana Edad , Adulto Joven , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/complicaciones , Enfermedad de la Hemoglobina SC/complicaciones , Sistema de Registros , Estados Unidos/epidemiología , Esplenomegalia/etiología , Esplenomegalia/epidemiologíaRESUMEN
A growing body of research is categorizing sex differences in both sickle cell anemia (SCA) and acute kidney injury (AKI); however, most of this work is being conducted in high-resource settings. Here, we evaluated risk factors and clinical parameters associated with AKI and AKI severity, stratified by sex, in a cohort of children hospitalized with SCA and vaso-occlusive pain crisis (VOC). The purpose of this study was to explore sex disparities in a high-risk, vulnerable population. This study was a secondary analysis of data collected from a cohort of Ugandan children between 2 and 18 yr of age prospectively enrolled. A total of 185 children were enrolled in the primary study; 41.6% were female and 58.4% were male, with a median age of 8.9 yr. Incident or worsening AKI (P = 0.026) occurred more frequently in female compared with male children, despite no differences in AKI on admission. Female children also had altered markers of renal function including higher creatinine levels at admission (P = 0.03), higher peak creatinine (P = 0.006), and higher urine neutrophil gelatinase-associated lipocalin (NGAL) at admission (P = 0.003) compared with male children. Female children had elevated total (P = 0.045) and conjugated bilirubin at admission (P = 0.02) compared with male children and higher rates of hematuria at admission (P = 0.004). Here, we report sex differences in AKI in children with SCA and VOC, including increased incidence and worsening of AKI in female pediatric patients, in association with an increase in biological indicators of poor renal function including creatinine, estimated glomerular filtration rate, and NGAL.NEW & NOTEWORTHY In this study, we report an increased risk of developing acute kidney injury (AKI) during hospitalization, worsening AKI, and death among females with sickle cell anemia (SCA) hospitalized with an acute pain crisis compared with males. The sex differences in AKI were not explained by socioeconomic differences, severity of pain, or disease severity among females compared with males. Together, these data suggest that female children with SCA may be at increased risk of AKI.