scholarly journals Neonatal Screening for Sickle Cell Disease in Belgium for More than 20 Years: An Experience for Comprehensive Care Improvement

2018 ◽  
Vol 4 (4) ◽  
pp. 37 ◽  
Author(s):  
Béatrice Gulbis ◽  
Phu-Quoc Lê ◽  
Olivier Ketelslegers ◽  
Marie-Françoise Dresse ◽  
Anne-Sophie Adam ◽  
...  

Our previous results reported that compared to sickle cell patients who were not screened at birth, those who benefited from it had a lower incidence of a first bacteremia and a reduced number and days of hospitalizations. In this context, this article reviews the Belgian experience on neonatal screening for sickle cell disease (SCD). It gives an update on the two regional neonatal screening programs for SCD in Belgium and their impact on initiatives to improve clinical care for sickle cell patients. Neonatal screening in Brussels and Liège Regions began in 1994 and 2002, respectively. Compiled results for the 2009 to 2017 period demonstrated a birth prevalence of sickle cell disorder above 1:2000. In parallel, to improve clinical care, (1) a committee of health care providers dedicated to non-malignant hematological diseases has been created within the Belgian Haematology Society; (2) a clinical registry was implemented in 2008 and has been updated in 2018; (3) a plan of action has been proposed to the Belgian national health authority. To date, neonatal screening is not integrated into the respective Belgian regional neonatal screening programs, the ongoing initiatives in Brussels and Liège Regions are not any further funded and better management of the disease through the implementation of specific actions is not yet perceived as a public health priority in Belgium.

2020 ◽  
Author(s):  
Daima Bukini ◽  
Siana Nkya ◽  
Sheryl McCurdy ◽  
Columba Mbekenga ◽  
Karim Manji ◽  
...  

1.0AbstractPrevalence of Sickle Cell Disease is high in Africa, with significant public health effects to the affected countries. Many of the countries with the highest prevalence of the disease also have poor health care system, high burden of infectious diseases with many other competing healthcare priorities. Though, considerable efforts have been done to implement newborn screening for Sickle Cell Disease programs in Africa but still coverage is low. Tanzania has one of the highest birth prevalence of children with Sickle Cell Disease in Africa. Also, it is one of many other African countries to implement pilot projects for Newborn Screening for Sickle Cell Disease to assess feasibility. Several efforts have been made afterwards to continue providing the screening services as well as comprehensive care for Sickle Cell Disease. Using qualitative methods, we conducted In- Depth Interviews and Focus Group Discussions with policy makers, health care providers and families to provide an analysis of their experiences and perspectives on efforts to expand and sustain Newborn Screening for Sickle Cell Disease and related comprehensive care services in the country. Findings have demonstrated both the opportunities and challenges in the implementation and sustainability of the services in low resource settings. A key area of strengthening is full integration of the services in countries’ health care systems to facilitate coverage, accessibility and affordability of the services. However, efforts at the local level to sustain the programs are encouraging and can be used as a model in other programs implemented in low resources settings.


Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4834-4834
Author(s):  
Susan B. Shurin ◽  
Hani Atrash ◽  
Coleen Boyle ◽  
R. Lorraine Brown ◽  
Janet L. Collins ◽  
...  

Abstract Abstract 4834 Over the past half century, the course of sickle cell disease has been transformed in the United States through the conduct of rigorous biomedical research and broad application of the results. Universal newborn screening with comprehensive medical care has dramatically reduced death and disability in childhood, and increased the numbers of patients surviving into adulthood. However, access to health care has not kept up with the changing demographics of those affected by sickle cell disease. Health care often becomes fragmented when patients transition from pediatric to adult health care providers. Access to comprehensive care has impeded both conduct of clinical and implementation of research results. To address these needs in this changing environment, HHS Secretary Kathleen Sebelius has charged six agencies of HHS – NIH, CDC, HRSA, FDA, AHRQ and CMS – and the Offices of Minority Health and Planning and Evaluation, to improve the health of people with SCD. The agencies are coordinating their programs and collaborating with the Office of the Secretary, to achieve the following goals:create a comprehensive database of individuals with SCD to facilitate the monitoring of health outcomes and clinical research;improve the care of adults and children through development and dissemination of evidence-based guidelines, which are anticipated in Spring, 2012, with broad implementation plans;identify measures of quality of care for individuals with SCD and incorporate them into quality improvement programs at HHS;increase the availability of medical homes to improve patient access to quality primary and specialty care;provide State Medicaid officials, health care providers, patients, families and advocacy groups with information about resources related to SCD care and treatment;work with the pharmaceutical industry and academic investigators to increase the development of effective treatments for patients with SCD;support research to improve health care for people with SCD;support research to understand the clinical implications of SC trait;engage national and community-based SCD advocacy organizations and experts in ongoing discussions to ensure that issues of importance to persons affected are addressed. Organizational and strategic actions are being taken at each agency to enhance implementation of research advances; provide evidence-based guidelines to families, health care providers, and payers; facilitate new drug development; and provide public health data to impact both the health care delivery and research agendas. The enthusiastic support of the American Society of Hematology and its members is essential for long-term success of this endeavor. Disclosures: No relevant conflicts of interest to declare.


2017 ◽  
Vol 25 (1) ◽  
pp. 49-50 ◽  
Author(s):  
Magdalene Antoine ◽  
Ketty Lee ◽  
Tyhiesia Donald ◽  
Yonni Belfon ◽  
Ali Drigo ◽  
...  

Objective To establish the birth prevalence of sickle cell disease in Grenada, with a view to assess the requirement for a population-based neonatal screening programme. Methods A two-year pilot neonatal screening programme, involving the Ministry of Health of Grenada, the Sickle Cell Association of Grenada, and the diagnostic laboratory of hemoglobinopathies of the University Hospital of Guadeloupe, was implemented in 2014–2015 under the auspices of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia. Results Analysis of 1914 samples processed identified the following abnormal phenotypes: 10 FS, 2 FSC, 183 FAS, 63 FAC. These data indicate βs and βc allele frequencies of 0.054 and 0.018, respectively. Conclusion Neonatal screening conducted in the framework of this Caribbean cooperation can allow rapid detection and earlier management of affected children.


Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 1029-1029 ◽  
Author(s):  
Akinyemi Olugbenga David Ofakunrin ◽  
Kehinde Adekola ◽  
Edache Sylvanus Okpe ◽  
Stephen Oguche ◽  
Tolulope Afolaranmi ◽  
...  

Background: Hydroxyurea is one of the currently approved medications capable of modifying the pathogenesis of sickle cell disease (SCD), and its use has transformed the management of this disease worldwide.However, available evidences suggest that hydroxyurea is underutilized by sickle cell health-care providers in Nigeria despite the huge burden of the disease. Objectives: This study assessed the level of utilization and provider-related barriers to the use of hydroxyurea in the treatment of SCD patients in Jos, Nigeria. Methods: A cross-sectional study conducted among 132 medical doctors providing care for SCD patients in four tertiary hospitals in Jos using a multistage sampling technique. In this setting, SCD patients are cared for by the Hematologists, Pediatricians, Family Physicians and General Practitioners. Data on socio-demographics of the respondents, knowledge, utilization and barriers to the utilization of hydroxyurea were obtained using an interviewer-administered questionnaire. The data were processed and analysed using SPSS version 23. Hydroxyurea was adjudged utilized if a provider has prescribed hydroxyurea to any SCD patient within the last 12 months. Chi square test was used to test the association between the demographic, provider-related barrier variables and the level of utilization of hydroxyurea. The barriers were fed cumulatively into logistic regression model as predictors of utilization of hydroxyurea. Adjusted odds ratio and 95% confidence interval were used as point and interval estimates respectively. A P-value of <0.05 was considered statistically significant. Results: Of the 132 respondents, 88 (67%) had been in medical practice for upward of six years while 80 (60.6%) of them affirmed that they have attended to more than 10 SCD patients in the last 6 months. Sixty-seven (50.8%) of the participants had inadequate knowledge of hydroxyurea use in SCD management while the level of utilization of hydroxyurea in SCD treatment was 24.2%. The odds of non-utilization of hydroxyurea was 5.1 times higher in providers with no expertise in its use (OR =5.1; 95% CI =2.65-9.05; P<0.0001). Other barriers that predicted its non-utilization included inadequate knowledge (OR =0.17; 95% CI =0.29-0.71; P=0.017), fear of side-effects (OR =0.50; 95% CI =0.22-0.68; P=0.019) and doubt about the effectiveness of the medication (OR =0.30; 95% CI =0.20-0.90; P=0.002). Conclusion: The level of utilization of hydroxyurea in the treatment of SCD among the sickle cell care-providers is sub-optimal with the lack of expertise in its use identified as the most prominent barrier. Therefore, training of Nigeria sickle cell care-providers to attain and maintain competence in the use of hydroxyurea for the treatment of SCD is required. Keywords: Sickle cell disease, hydroxyurea, utilization, barriers, Jos, Nigeria Disclosures No relevant conflicts of interest to declare.


2020 ◽  
Vol 4 (18) ◽  
pp. 4463-4473
Author(s):  
Jason R. Hodges ◽  
Shannon M. Phillips ◽  
Sarah Norell ◽  
Chinonyelum Nwosu ◽  
Hamda Khan ◽  
...  

Abstract Hydroxyurea is an efficacious treatment for sickle cell disease (SCD), but adoption is low among individuals with SCD. The objective of this study was to examine barriers to patients’ adherence to hydroxyurea use regimens by using the intentional and unintentional medication nonadherence framework. We interviewed individuals with SCD age 15 to 49.9 years who were participants in the Sickle Cell Disease Implementation Consortium (SCDIC) Needs Assessment. The intentional and unintentional medication nonadherence framework explains barriers to using hydroxyurea and adds granularity to the understanding of medication adherence barriers unique to the SCD population. In total, 90 semi-structured interviews were completed across 5 of the 8 SCDIC sites. Among interviewed participants, 57.8% (n = 52) were currently taking hydroxyurea, 28.9% (n = 26) were former hydroxyurea users at the time of the interview, and 13.3% (n = 12) had never used hydroxyurea but were familiar with the medication. Using a constructivist grounded theory approach, we discovered important themes that contributed to nonadherence to hydroxyurea, which were categorized under unintentional (eg, Forgetfulness, External Influencers) and intentional (Negative Perceptions of Hydroxyurea, Aversion to Taking Any Medications) nonadherence types. Participants more frequently endorsed adherence barriers that fell into the unintentional nonadherence type (70%) vs intentional nonadherence type (30%). Results from this study will help SCD health care providers understand patient choices and decisions as being either unintentional or intentional, guide tailored clinical discussions regarding hydroxyurea therapy, and develop specific, more nuanced interventions to address nonadherence factors.


2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Raffaella Colombatti ◽  
Maddalena Casale ◽  
Giovanna Russo

AbstractThe objective of the present article is to highlight the need for attention to Quality of Life of patients with Sickle Cell Disease living in Italy. The transformation of sickle cell disease from a severe life-threatening disease of childhood into a chronic, lifelong condition due to the significant improvements in care and treatment options, imposes increasing new challenges to health care providers and patients. Patients now face physical, psychosocial and emotional challenges throughout their lives. They generally have to receive chronic treatments and regular multidisciplinary monitoring which increase social and emotional burden rendering adherence to treatment sometimes complicated. A chronic disease impacts all aspects of patients’ lives, not only the physical one, but also the social and emotional aspects as well as the educational and working life. The entire “Quality of Life” is affected and recent evidence demonstrates the importance quality of life has for patients with chronic illness. The results of this review focus on emerging data regarding quality of life across the lifespan of patients with Sickle Cell Disease, and highlight the need for more action in this field in Italy, where recent immigration and improved care determine an increasing population of children with sickle cell disease being taken into long term care.


2021 ◽  
Vol 21 (2) ◽  
pp. 765-774
Author(s):  
Akinyemi OD Ofakunrin ◽  
Edache S Okpe ◽  
Tolulope O Afolaranmi ◽  
Rasaq R Olaosebikan ◽  
Patience U Kanhu ◽  
...  

Background: Hydroxyurea is underutilized by sickle cell health-care providers in Nigeria despite available evidence of its effectiveness in reducing the manifestations and complications of sickle cell disease (SCD). Objectives: To assess the level of utilization and provider-related barriers to the use of hydroxyurea in SCD therapy in Jos, Nigeria. Methods: A cross-sectional study conducted among 132 medical doctors providing care for SCD patients. Data on so- cio-demographics, utilization and barriers to hydroxyurea use were obtained. The barriers were fed cumulatively into the logistic regression model as predictors of utilization. Results: Of the 132 care providers, 88 (67%) had been in medical practice for ≥6years. The level of utilization of hy- droxyurea was 24.2%. The significant barriers that predicted the non-utilization of hydroxyurea included lack of expertise (OR=5.1; 95% CI=2.65–9.05), lack of clinical guidelines (OR=3.84; 95% CI=2.37-14.33), fear of side-effects (OR=0.50; 95% CI=0.22–0.68) and doubt about its effectiveness (OR=0.30; 95% CI=0.20–0.90). Conclusion: The level of utilization of hydroxyurea in the treatment of SCD among the care providers is sub-optimal with the lack of expertise in its use identified as the most prominent barrier. There is an urgent need for the training of sickle cell care-providers and the development of clinical guidelines on hydroxyurea use. Keywords: Hydroxyurea utilization; barriers to hydroxyurea; sickle cell disease; Nigeria.


Neurology ◽  
2017 ◽  
Vol 89 (14) ◽  
pp. 1516-1524 ◽  
Author(s):  
Jean Jacques Noubiap ◽  
Michel K. Mengnjo ◽  
Nicolas Nicastro ◽  
Joseph Kamtchum-Tatuene

Objective:To summarize prevalence data on the neurologic complications of sickle cell disease (SCD) in Africa.Methods:We searched EMBASE, PubMed, and African Index Medicus to identify all relevant articles published from inception to May 31, 2016. Each study was reviewed for methodologic quality. A random-effects model was used to estimate the prevalence of neurologic complications of SCD across studies.Results:Thirty-one studies were included. Methodologic quality was high or moderate in 90% of studies. Stroke, conditional and abnormal cerebral blood flow, seizures, and headache were the complications most frequently reported, with overall prevalence rates of 4.2%, 10.6%, 6.1%, 4.4%, and 18.9%, respectively. Some complications, like silent brain infarcts, peripheral neuropathies, neurocognitive deficits, or moyamoya disease, have been rarely or not studied at all in the African setting. Incidence data were scarce and of poor quality.Conclusions:The burden of neurologic complications of SCD is important in Africa and most likely underestimated. A better evaluation of this burden requires larger prospective studies using standard up-to-date screening methods. Accessibility to diagnostic tools such as neuroimaging, transcranial Doppler, EEG, and neuropsychological evaluation, as well as to preventive and therapeutic interventions and trained health care providers, should be improved in routine clinical practice.


Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 21-22
Author(s):  
Daniela Anderson ◽  
Erin Hickey ◽  
Sharjeel Syed ◽  
Jacobi Hines ◽  
Nabil Abou Baker

Introduction Patients with sickle cell disease (SCD) commonly experience negative attitudes from health care providers, leading to significant barriers to care and management of pain (Haywood 2009). Incidence of SCD is high on the South Side of Chicago and the University of Chicago Medical Center (UCMC) is among the primary systems in the area caring for these patients. Based on the results of a small pilot study conducted at UCMC in 2019, providers can hold biased beliefs that lead to inadequate delivery of analgesia (Nelson 2019). Because internal medicine (IM) and emergency medicine (EM) residents are often at the frontline of caring for patients with SCD, we sought to explore attitudes and beliefs amongst IM and EM residents at our institution in order to address biases with future interventions. Methods We conducted anonymous surveys using validated questions (Haywood 2011) for UCMC IM and EM residents. The surveys were administered in paper form during conferences in July 2019 to IM and EM residents and January 2020 to IM residents. The surveys, which included questions that assess barriers to care of patients with SCD and attitudes amongst providers, utilize the 4-point Likert scale in which higher scores correspond to stronger agreement with the statement. Participants were asked to provide non-identifiable demographic information including sex, ethnicity, age range, training year (PGY-1- PGY-3), and residency program. Responses were pooled and analyzed to assess for differences in attitudes by residency program (EM vs. IM), sex, age, year of training, and ethnicity. Statistical analysis was performed using the student's t-tests to identify differences in average responses and ANOVA to examine for confounding variables. Results Sixty-six residents were included in this study: 44 IM and 22 EM. Residents were 41% female and 58% male, ranging in age from 20-39 (median 25-29 yrs). Forty-eight percent of residents were White, 20% Asian/Asian American, 11% Black/African American, 9% Latinx, and 12% unidentified/other. Resident training level included 20% PGY-1 (13), 53% PGY-2 (35), and 29% PGY-3 (19). In terms of attitudes, 38% of IM and EM residents overall believed that patients with SCD over-report pain and are "drug-seeking" (N=66). IM residents (84% N=44) were more likely to consider patients to be frustrating to work with compared to EM residents (23% N=22, p&lt;0.0001). While 83% of residents overall said patients with SCD are easy to empathize with, only 50% of IM residents (N= 44) believed they could be friends with SCD patients compared to 82% amongst EM residents (N=22, p=0.001) (Figure 1). When comparing these responses by year of training, attitudes generally became more negative with increased training, with advanced residents more likely to believe that SCD patients over-report pain (p=0.011), feel more frustrated caring for patients (p&lt;0.001), consider themselves less likely to be friends with the patients (p=0.004), and feel less satisfied about going into medicine in general (p=0.012). No significant differences were observed when comparing resident ethnicity or age group. Considering barriers to SCD pain management, 100% of IM residents (N=23) believed opioid tolerance was a significant barrier, followed by 92% reporting opioid dependence, 83% side effects, 79% addiction, and 67% regulatory oversight. Conclusion This study highlights gaps in resident understanding of SCD and reveals biases held amongst IM and EM residents. Biases are augmented amongst IM residents and tend to become more exaggerated with increased level of training. The latter result may be confounded by burnout, which was not directly assessed in this study. The differences observed between IM and EM residents may be due to variation in education, workflow, or program diversity (although effect of ethnicity was not statistically significant). Resident-perceived barriers also seem to be focused on negative patient-centered factors (dependence, addiction, tolerance) rather than systemic limitations (availability, training, efficacy), likely reflecting negative resident attitudes as seen in previous studies (Haywood 2009). These data demonstrate an unmet need, underlining the importance of developing education, training, and potentially wellness programs to confront biases, build positive attitudes toward patients with SCD and ultimately remove barriers to care of patients with SCD. Disclosures No relevant conflicts of interest to declare.


Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 4472-4472 ◽  
Author(s):  
Elina Tsyvkin ◽  
Catherine Riessman ◽  
Paul Mathew

Abstract A gap in trust between patients with sickle cell disease (SCD) and medical providers is well recognized, largely originating from repetitive requests for opioid analgesics. Although expert clinical care guidelines in sickle cell disease are available, they rarely address measures by which this endemic gap in trust may be narrowed to fulfill the goals of medicine. We hypothesized that an increased familiarity with the patient as an individual through exposure of physicians to first-person narratives of the life-world of SCD may allow reformulation of perceptions and narrow the gap between physicians and patients. In a pilot study, extended first-person narratives of the illness experience elicited from patients with SCD with a history of recurrent hospitalizations (n=10) point to the individualized impact of pain, illness and stigmatizing disruptions in life-building efforts imposed by SCD together with the recurrent conflicts with medical caregivers, particularly after transition from pediatric to adult medicine. Patient-elicited narrative fragments such as "You are constantly fighting with people who are supposed to be making us feel better", "You don't know me, I am a church boy!" and "Put down your microscopes and talk to us" reveal the yearning by patients for individual integrity to be acknowledged, absorbed and interpreted by physicians. Additional narrative fragments such as "I hate myself. I hate my life", "Why am I broken?", "you don't want to be the girl with jaundice", "I had to leave work for 2 months because I was hospitalized, it killed me, it killed me", "you never know when it's going to be the last day, the last moment", exhibit the woundedness and fragility of existence experienced by patients. Narratives elicited separately from physicians caring for SCD (n=5) reveal anxiety, fear and distrust of the reported pain experience and opioid requests, and point toward deeper schisms that disparities may define: "I was very scared when I took care of my first sickle cell patient", "I came in with a bias already", "a similar frequent flier who had the same kind of behavior", "you have to be careful with empathy, people can take advantage of it", "I am not an enabler", "My grandfather told me about these people". Yet when the same physicians were invited to read and reflect on transcripts of the life-world stories of patients, reshaped perceptions of the stigmatized patient are revealed; "without knowing the story, you can't put it all together", "this would change the way I view treating them", "I will have more patience now" as examples. However, "Why can't they listen to our story? It could help them to be better patients," suggests that additional studies of the mutual intersections of patient and physician narratives are warranted and that these can offer insights and pathways toward mitigating distrust and conflict between medical care providers and patients with SCD. Disclosures No relevant conflicts of interest to declare.


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