Materiały źródłowe

• #1 Data and Statistics on Sickle Cell Disease | Sickle Cell Disease (SCD) | CDC

  https://www.cdc.gov/sickle-cell/data/index.html

  Sickle cell disease (SCD) affects about 100,000 people in the United States; more than 90% are non-Hispanic Black or African American, and an estimated 3%9% are Hispanic or Latino. […] The exact number of people living with SCD in the United States is unknown. […] Two studies published in 2010 estimated that SCD affects approximately 100,000 people in the United States. […] More than 90% of people in the United States with SCD are non-Hispanic Black or African American (Black), and an estimated 3%9% are Hispanic or Latino. […] SCD occurs in about 1 out of every 365 Black or African American births and about 1 out of every 16,300 Hispanic American births. […] A CDC study of children and adolescents enrolled in Medicaid found that in 2019 less than half of children and adolescents received the recommended stroke screening. […] These findings highlight the ongoing gaps in health care for people with SCD and speak to the urgent need to address barriers to care.

• #2 Sickle Cell Disease (SCD): Practice Essentials, Background, Genetics

  https://emedicine.medscape.com/article/205926-overview

  SCD is present mostly in people of sub-Saharan African descent. It also is found, with much less frequency, in eastern Mediterranean and Middle East populations. Individuals of Central African Republic descent are at an increased risk for overt kidney failure. […] The sickle gene is present in approximately 8% of Black Americans. More than 2 million people in the United States, nearly all of them of African American ancestry, carry the sickle gene. The following statistics are available from the Centers for Disease Control and Prevention and the National Institutes of Health: In the United States, it is estimated that approximately 100,000 people have SCD. SCD occurs in about 1 out of every 365 Black or African-American births. SCD occurs in about 1 of every 16,300 Hispanic-American births. Approximately 1 in 13 Blacks or African Americans has sickle cell trait.

• #3 Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000–2021 | Institute for Health Metrics and Evaluation

  https://www.healthdata.org/research-analysis/library/global-regional-and-national-prevalence-and-mortality-burden-sickle-cell

  We estimated 34400 (sickle cell) cause-specific all-age deaths globally in 2021, but total sickle cell disease mortality burden was nearly 11-times higher at 376000. […] This study delivers a comprehensive global assessment of prevalence of sickle cell disease and mortality burden by age and sex for 204 countries and territories from 2000 to 2021. […] We estimated cause-specific sickle cell disease mortality using standardised GBD approaches, in which each death is assigned to a single underlying cause, to estimate mortality rates from the International Classification of Diseases (ICD)-coded vital registration, surveillance, and verbal autopsy data. […] Our findings show a strikingly high contribution of sickle cell disease to all-cause mortality that is not apparent when each death is assigned to only a single cause.

• #4 Sickle cell disease – Wikipedia

  https://en.wikipedia.org/wiki/Sickle_cell_disease

  Sickle cell disease is estimated to affect about 7.7 million people worldwide, directly causing an estimated 34,000 annual deaths and a contributory factor to a further 376,000 deaths. […] About 80% of sickle cell disease cases are believed to occur in Sub-Saharan Africa. […] The highest frequency of sickle cell disease is found in tropical regions, particularly sub-Saharan Africa, tribal regions of India, and the Middle East. […] Migration of substantial populations from these high-prevalence areas to low-prevalence countries in Europe has dramatically increased in recent decades and in some European countries, sickle cell disease has now overtaken more familiar genetic conditions such as haemophilia and cystic fibrosis. […] Three-quarters of sickle cell cases occur in Africa. […] A WHO report dated 2006 estimated that around 2% of newborns in Nigeria were affected by sickle cell anaemia, giving a total of 150,000 affected children born every year in Nigeria alone.

• #5 Sickle Cell Disease | WHO | Regional Office for Africa

  https://www.afro.who.int/health-topics/sickle-cell-disease

  Sickle cell disease (SCD), or sickle cell anaemia, is a major genetic disease that affects most countries in the African Region. […] In the Region, the majority of children with the most severe form of the disease die before the age of 5, usually from an infection or severe blood loss. In countries such as Cameroon, Republic of Congo, Gabon, Ghana and Nigeria the prevalence is between 20% to 30% while in some parts of Uganda it is as high as 45%. […] Approximately 5% of the worlds population carries trait genes for haemoglobin disorders, mainly, sickle-cell disease and thalassaemia. […] Sickle-cell disease predominates in Africa. […] The governing bodies of WHO have adopted two resolutions on haemoglobin disorders. The resolution on sickle-cell disease from the 59th World Health Assembly in May 2006 and the resolution on thalassaemia from the 118th meeting of the WHO Executive Board call upon affected countries and the Secretariat of WHO to strengthen their response to these conditions. […] The SICKLE technical package provides a holistic and integrated approach to managing sickle cell disease, ensuring access to necessary interventions, promoting education and advocacy, enhancing the quality of care, and empowering patients and communities.

• #6 Sickle cell disease – Wikipedia

  https://en.wikipedia.org/wiki/Sickle_cell_disease

  The carrier frequency ranges between 10 and 40% across equatorial Africa, decreasing to 12% on the North African coast and 1% in South Africa. […] In the United States, about one out of 365 African-American children and one in every 16,300 Hispanic-American children have sickle cell anaemia. […] In France, sickle cell disease has become a major health problem, with an overall birth prevalence of one in 2,415 in mainland France. […] In Saudi Arabia, about 4.2% of the population carry the sickle cell trait and 0.26% have sickle cell disease.

• #7 Epidemiology and disease burden of sickle cell disease in France: A descriptive study based on a French nationwide claim database | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0253986

  Sickle cell disease (SCD) is a severe hematological disorder. The primary objective of this study was to estimate SCD prevalence in France. […] Based on the number of patients identified for G1 and G2, the 2016 French prevalence was estimated to be between 48.6 per 100,000 (G1) or 32,400 patients and 29.7 per 100,000 (G2) or 19,800 patients. […] Our study estimates SCD prevalence in France at between 19,800 and 32,400 patients in 2016, higher than previously published. This study highlights the significant disease burden associated with vaso-occlusive events. […] This study reports the prevalence, complication rate, resource use, and cost of care for SCD patients in France based on real-world data. Using the EGB data, we estimate that SCD prevalence in France is between 19,800 and 32,400 patients in 2016. […] Overall, it is likely that the prevalence rate of 29.7 per 100,000 or 19,800 patients for group 2 is a very conservative estimate. France seems to be the European country with the highest prevalence of SCD patients, followed by the UK with 14,000 patients (2018).

• #8 Frontiers | Sickle cell disease: a comparative perspective on global and national initiatives

  https://www.frontiersin.org/journals/hematology/articles/10.3389/frhem.2024.1457158/full

  Sickle cell disease (SCD) presents a significant global health burden, particularly in sub-Saharan Africa, India, and the Middle East. The disease accounts for a substantial portion of child mortality in these regions due to limited access to adequate healthcare. According to Grosse et al., approximately 300,000 infants are born annually with SCD globally, with the highest incidence in Africa where it contributes to 5-16% of under-five mortality. The burden of SCD is also profound, particularly in countries with diverse populations such as the United States, where it predominantly affects African Americans. Hassell reports that SCD affects about 100,000 Americans, with significant healthcare costs and challenges in disease management. India ranks second in the world for the number of predicted SCD births, with an estimated 42,016 newborns born with sickle cell anemia in 2010.

• #9 Sickle Cell Disease (SCD): Practice Essentials, Background, Genetics

  https://emedicine.medscape.com/article/205926-overview

  The mutation that results in HbS is believed to have originated in several locations in Africa and India. Its prevalence varies but is high in these countries because of the survival advantage to heterozygotes in regions of endemic malaria. As a result of migration, both forced and voluntary, it is now found worldwide.

• #10 Sickle-cell disease epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Sickle-cell_disease_epidemiology_and_demographics

  People from India have higher frequencies of sickle cell alleles compared to others. The HbS gene is sometimes associated with the Arab-India beta-globin cluster phenotype. Compared to people from Africa, those from India have a lower frequency of the HbSS genotype (30-70%) and a higher frequency of sickle cell-beta-thalassemia (HbSB) genotype. […] The frequency of sickle cell alleles are highest in regions of the country where malaria is endemic. […] Besides Africa and India, other geographic regions are affected by particular sickle cell phenotypes. The nomenclature of certain sickle cell hemoglobinopathies and haplotypes is based on the region in which the prevalence is high.

• #11 Surveillance for Sickle Cell Disease — Sickle Cell Data Collection Program, Two States, 2004–2018

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9552568/

  Sickle cell disease (SCD), an inherited blood disorder affecting an estimated 100,000 persons in the United States, is associated with multiple complications and reduced life expectancy. […] Population-based public health surveillance is critical to understanding the course and outcomes of SCD as well as the health care use, unmet health care needs, and gaps in essential services of the population affected by SCD. […] In 2015, CDC established the Sickle Cell Data Collection (SCDC) program to characterize the epidemiology of SCD in two states (California and Georgia). […] SCDC is a population-based tracking system that uses comprehensive data linkages in state health systems. […] SCDC data have been used to directly apprise health care providers and policymakers about health care needs and gaps for patients with SCD.

• #12 Surveillance for Sickle Cell Disease — Sickle Cell Data Collection Program, Two States, 2004–2018 | MMWR

  https://www.cdc.gov/mmwr/volumes/71/ss/ss7109a1.htm

  Surveillance for Sickle Cell Disease Sickle Cell Data Collection Program, Two States, 20042018 […] Problem/Condition: Sickle cell disease (SCD), an inherited blood disorder affecting an estimated 100,000 persons in the United States, is associated with multiple complications and reduced life expectancy. […] Population-based public health surveillance is critical to understanding the course and outcomes of SCD as well as the health care use, unmet health care needs, and gaps in essential services of the population affected by SCD. […] In 2015, CDC established the Sickle Cell Data Collection (SCDC) program to characterize the epidemiology of SCD in two states (California and Georgia). […] SCDC is a population-based tracking system that uses comprehensive data linkages in state health systems. […] Data from multiple sources and years are linked and deduplicated so that states can analyze and report on SCD population prevalence, demographic characteristics, health care access and use, and health outcomes.

• #13 3 Screening, Registries, and Surveillance | Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action | The National Academies Press

  https://nap.nationalacademies.org/read/25632/chapter/5

  While newborn screening is mandated in all 50 states, the District of Columbia, Puerto Rico, Guam, and the U.S. Virgin Islands, it is ineffective in capturing individuals living with sickle cell disease (SCD) who were born prior to universal screening or outside of the United States and its territories. […] Follow-up for positive sickle cell trait and SCD screens varies greatly by state; there is a need for standardization in follow-up (including who receives and communicates positive results) to ensure that all individuals with SCD across the United States are getting needed care as early as possible. […] Registries and public health surveillance systems hold great promise to provide valuable information about the SCD population—who they are and what their care and research needs are. Current efforts to collect these data need to be standardized and scaled at the national level.

• #14 Surveillance for Sickle Cell Disease — Sickle Cell Data Collection Program, Two States, 2004–2018

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9552568/

  This report is the first comprehensive description of CDCs efforts in collaboration with participating states to establish, maintain, and expand SCD surveillance through the SCDC program to improve health outcomes for persons living with SCD. […] Ongoing public health surveillance is critical to understanding the clinical course and outcomes of SCD and is vital for public health planning and patient, family, and provider education. […] The SCDC program had expanded to 11 states with the addition of Colorado and Wisconsin. […] The cumulative prevalence of confirmed and probable SCD cases identified in California and Georgia was 9,875 and 14,777 cases, respectively. […] SCDC has been ongoing since 2015 in California and Georgia with both programs continually engaging their community (community-based organizations and patient advocacy groups), public health (state public health department and NBS), clinical, and federal partners through statewide, multidisciplinary stakeholder meetings to help guide the focus, content, and information dissemination for the project.

• #15 Sickle Cell Data Collection (SCDC) Program | Texas DSHS

  https://www.dshs.texas.gov/environmental-epidemiology-disease-registries-section-eedrs/Sickle-Cell-Data-Collection

  In 2023, the Texas Department of State Health Services (DSHS) applied for and received funding from the Centers for Disease Control and Prevention (CDC) to establish a state sickle cell data collection system that informs sickle cell practices and policies in Texas. Texas SCDC is one of 16 states funded by the CDC. […] Texas SCDC serves as the foundation for measuring sickle cell burden in Texas by assessing long-term trends in sickle cell disease diagnosis, treatment, and healthcare access. In the absence of population-based surveillance, Texas SCDC provides information on all individuals with sickle cell disease in Texas, regardless of age, insurance status, or geography. […] The goal of Texas SCDC is to collect, maintain, and disseminate high quality sickle cell data that will contribute to improving diagnoses, treatments, survival, and quality of life for all individuals with sickle cell disease in Texas.

• #16 Surveillance for Sickle Cell Disease — Sickle Cell Data Collection Program, Two States, 2004–2018 | MMWR

  https://www.cdc.gov/mmwr/volumes/71/ss/ss7109a1.htm

  During 20042018, the cumulative prevalence of confirmed and probable SCD cases identified in California and Georgia was 9,875 and 14,777 cases, respectively. […] A surveillance capacity and performance assessment of all 11 SCDC states during 20202021 indicated that states differed in the availability of data sources used for SCD surveillance and the time frames for accessing each state data source. […] This report is the first comprehensive description of CDCs efforts in collaboration with participating states to establish, maintain, and expand SCD surveillance through the SCDC program to improve health outcomes for persons living with SCD. […] Findings from California and Georgia analyses highlighted a need for additional SCD specialty clinics. […] Ongoing public health surveillance is critical to understanding the clinical course and outcomes of SCD and is vital for public health planning and patient, family, and provider education. […] This report describes CDCs SCDC program and the surveillance projects that preceded it, highlights recent data (20042018) from SCDC, and describes SCDC capacity-building activities to expand the number of participating states. Public health officials can use this report as a guiding framework to plan or implement SCD surveillance programs.

• #17 Common data model for sickle cell disease surveillance: considerations and implications – PubMed

  https://pubmed.ncbi.nlm.nih.gov/37252051/

  Population-level data on sickle cell disease (SCD) are sparse in the United States. The Centers for Disease Control and Prevention (CDC) is addressing the need for SCD surveillance through state-level Sickle Cell Data Collection Programs (SCDC). […] The proposed model is constructed to allow pooling of table shells across states for comparison. Core Surveillance Data reports are compiled based on aggregate data provided by states to CDC annually. […] We successfully implemented a pilot SCDC common informatics infrastructure to strengthen our distributed data network and provide a blueprint for similar initiatives in other rare diseases.

• #18

  https://scholars.duke.edu/publication/1579903

  OBJECTIVE: Population-level data on sickle cell disease (SCD) are sparse in the United States. The Centers for Disease Control and Prevention (CDC) is addressing the need for SCD surveillance through state-level Sickle Cell Data Collection Programs (SCDC). […] RESULTS: The proposed model is constructed to allow pooling of table shells across states for comparison. Core Surveillance Data reports are compiled based on aggregate data provided by states to CDC annually. […] DISCUSSION AND CONCLUSION: We successfully implemented a pilot SCDC common informatics infrastructure to strengthen our distributed data network and provide a blueprint for similar initiatives in other rare diseases.

• #19

  https://journals.lww.com/hemasphere/fulltext/2022/08004/p_001__common_data_model_for_sickle_cell_disease.26.aspx

  With no existing population-based national registry, there is a lack of comprehensive understanding of the sickle cell disease (SCD) population living in the United States. […] The Sickle Cell Data Collection Program (SCDC), funded by the Centers for Disease Control and Prevention (CDC), is addressing this need by developing state-level surveillance programs. […] However, there is no data model to guide the harmonization of data collected for SCD public health surveillance. […] We describe an ongoing process for establishing and maintaining a common data model in the unique setting of public health surveillance and identify key elements for surveillance reporting on SCD. […] The SCDC Common Data Model will standardize key data elements by identifying data instruments, specific variables and formats.

• #20

  https://journals.lww.com/hemasphere/fulltext/2022/08004/p_001__common_data_model_for_sickle_cell_disease.26.aspx

  The creation of this Common Data Model is overseen by a committee from SCDC states with expertise in clinical care, claims data, epidemiology, database construction, and data analysis, with input from SCD champions. […] The SCDC has identified a core set of results that are feasible for most states to attain, are measured with reasonable accuracy, and have high public health and policy relevance. […] These Core Surveillance Data are reported annually by SCDC participant states and compiled by CDC. […] To standardized national SCD surveillance, we are implementing a common data model that will allow SCDC to move towards a distributed data network. […] In this report, we describe the process of developing and maintaining a common data model in this unique setting and identify key data elements for public health reporting on SCD.

• #21 CDC Releases Updated Sickle Cell Surveillance Summary

  https://www.hcplive.com/view/cdc-releases-updated-sickle-cell-surveillance-summary

  Analyses like the Sickle Cell Data Collection (SCDC) have played prominent roles in establishing new SCD clinics, educating health care providers, guiding new research initiatives, and developing state health care policies. […] The US Centers for Disease Control and Prevention (CDC) shared the first comprehensive description of its collaborative efforts to establish, maintain, and expand sickle cell disease (SCD) surveillance in order to improve health outcomes for individuals living with the rare disease. […] According to the report, a critical strategy to understanding the course and outcomes of sickle cell disease as well as the health care use, unmet care needs, and the gaps present in essential services, requires population-based public health surveillance of those affected by sickle cell disease.

• #22 CDC Releases Updated Sickle Cell Surveillance Summary

  https://www.hcplive.com/view/cdc-releases-updated-sickle-cell-surveillance-summary

  A key takeaway identified in the report was the need for more sickle cell disease specialty clinics in the participating states of California and Georgia. […] „Public health officials can use this report as a guiding framework to plan or implement surveillance programs for persons with SCD. Both data-related activities and the administrative considerations are crucial to the success of these programs,” the report stated. […] Before SCDC was established in 2015, there were 2 short-term projects conducted: Registry and Surveillance System for Hemoglobinopathies (RuSH) and Public Health Research, Epidemiology, and Surveillance for Hemoglobinopathies (PHRESH). […] By utilizing comprehensive data linkages in state health systems, the SCDC operates as a population-based tracking system that enables the synthesization and dissemination of longitudinal data.

• #23 Using Public Health Surveillance to Improve Outcomes among People with Sickle Cell Disease | Duke University School of Nursing

  https://nursing.duke.edu/news/using-public-health-surveillance-improve-outcomes-among-people-sickle-cell-disease

  NC SCDC is a state-level sickle cell disease (SCD) surveillance program that addresses the limited knowledge about the epidemiology of SCD in NC and the U.S. and generates actionable data to improve health outcomes for historically marginalized people with SCD. […] The lack of a national surveillance registry remains a major limiting factor to addressing healthcare needs and health inequities for people with SCD in the U.S. To address this gap, the Centers for Disease Control and Prevention is funding state-level surveillance programs. […] The NC SCDC program aims to generate and disseminate surveillance findings informing clinical practice, research, and policy at state and national levels. […] The exact number of people living with SCD remains unknown. Whereas reliable and comprehensive data are essential for addressing the challenges of SCD. Policy makers and different organizations need data on the prevalence of SCD in specific communities, healthcare utilization patterns, the number of children born with SCD, where births occur, and the quality of care received by people with SCD. […] This is where the NC SCDC can make significant impact- implementing statewide surveillance and disseminate aggregate level findings regarding the epidemiology and healthcare utilization patterns of SCD in the state, Kayle said.

• #24 Making the case to improve outcomes for sickle cell disease – UAB News

  https://www.uab.edu/news/research-innovation/making-the-case-to-improve-outcomes-for-sickle-cell-disease

  In the publication, Julie Kanter, M.D., co-director of the Lifespan Comprehensive Sickle Cell Center at UAB and associate professor in the Marnix E. Heersink School of Medicine, says that, despite the significant burden of SCD, the disease does not receive as much attention or resources since its discovery in 1910. […] One glaring issue according to Kanter is that there is no population-based data due to scarce resources. Kanter says a surveillance system would incorporate all individuals with SCD, including those not seen in established SCD care centers, and would establish true SCD prevalence or geographic distribution of individuals with SCD in the United States. […] Without surveillance data and a longitudinal registry, a true understanding of the implementation of disease-modifying therapy is impossible, she said. Disease surveillance is important for rare diseases that result in premature mortality, or which may impart a high emotional or economic burden to those affected or to the health care system.

• #25 Systematic Literature Review Shows Gaps in Data on Global Prevalence and Birth Prevalence of Sickle Cell Disease and Sickle Cell Trait: Call for Action to Scale Up and Harmonize Data Collection

  https://www.mdpi.com/2077-0383/12/17/5538

  Sickle cell disease (SCD) is an inherited monogenic disorder with high prevalence throughout sub-Saharan Africa, the Mediterranean basin, the Middle East, and India. […] Sources of SCD epidemiology remain scarce and fragmented. […] A systematic literature review (SLR) to identify peer-reviewed studies on SCD epidemiology was performed, with a search of bibliographic databases and key conference proceedings from 1 January 2010 to 25 March 2022 (congress abstracts after 2018). […] Prevalence was highest in Africa (~800/100,000), followed by the Middle East (~200/100,000) and India (~100/100,000), in contrast to ~30/100,000 in Europe. […] Birth prevalence was highest in Africa (~1000/100,000) and lowest in North America (~50/100,000) and Europe (~30/100,000). […] This SLR confirmed that sub-Saharan and North-East Africa, India, the Middle East, and the Caribbean islands are global SCD hotspots.

• #26 Sickle cell disease in sub-Saharan Africa – UpToDate

  https://www.uptodate.com/contents/sickle-cell-disease-in-sub-saharan-africa

  Sickle cell disease in sub-Saharan Africa […] The vast majority of individuals with sickle cell disease (SCD) are born in sub-Saharan Africa, where easy access to high-intensity medical care may be limited to varying degrees. […] The greatest burden of SCD is in sub-Saharan Africa, where access to medical care and public health strategies to decrease mortality and morbidity are not uniformly available. Over 300,000 babies are born with SCD annually; between 2000-2021, the total global births increased by 13.7 percent to 515,000. The global burden incurred in sub-Saharan Africa increased from 70 percent in 2000 (318,000 of 453,000 individuals total) to 79 percent in 2021 (405,000 or 515,000 individuals total).

• #27 An overview of sickle cell disease from the socio-demographic triangle – a Nigerian single-institution retrospective study

  https://www.panafrican-med-journal.com/content/article/41/161/full/

  The prevalence of SCD within the states in Nigeria ranges from 1%-3%. […] Nigeria accounts for 100,000-150,000 newborns living with SCD annually (33% of the global burden of SCD). […] The socio-demographic profile of people living with SCD is a strong predictor of the clinical course and outcome of the disease. […] A SCD prevalence of 1.63% was in keeping with the national prevalence range of 1%-3% in Nigeria. […] The two hemoglobin variants SS and SC were the commonest SCD hemoglobin variants found in Nigeria. […] The overall mean age of 14 years clearly depicts that SCD is still predominated by pediatric age status. […] The study showed that the proportion of SCD among the pediatric age group was not statistically significant higher than the adult counterpart. […] Most referrals for hemoglobin phenotype tests are incidental and not as a primary protective intervention, which ideally should emanate from the public health department.

• #28

  https://journals.lww.com/jaht/fulltext/2020/11010/epidemiology_and_characteristics_of_sickle_cell.3.aspx

  Sickle cell disease has many complications such as vaso-occlusive crisis (VOC), gallstones, stroke, acute chest syndrome (ACS), and others. […] This study aimed to describe the epidemiology and characteristics of sickle cell patients admitted to hospitals in Jazan region. […] SCA was the number one cause of admissions in this study. Approximately, one out of each four patients admitted to Jazan hospitals is a sickle cell patient. VOC represents the most frequent complication of sickle disease, followed by ACS. […] SCA is the most common hemoglobinopathy globally. In Saudi Arabia, it is most prevalent in Jazan region after the eastern region. […] More than one-fifth of all patients’ admissions during 1 month were of sickle cell patients. […] The most frequent cause of admission was VOC, followed by ACS. […] The most common complications of SCA were VOC and ACS, as reported in many studies.

• #29 JMIR Public Health and Surveillance – The Prevalence of Sickle Cell Disease in Colorado and Methodologies of the Colorado Sickle Cell Data Collection Program: Public Health Surveillance Study

  https://publichealth.jmir.org/2024/1/e64995

  Background: Sickle cell disease (SCD) is a genetic blood disorder that affects approximately 100,000 individuals in the United States, with the highest prevalence among Black or African American populations. […] To address this gap, the Colorado Sickle Cell Data Collection (CO-SCDC) program was established in 2021 as part of the Centers for Disease Control and Preventions initiative to enhance surveillance and public health efforts for SCD. […] Objective: The objectives of this study were to describe the establishment of the CO-SCDC program and to provide updated estimates of the prevalence and birth prevalence of SCD in Colorado, including geographic dispersion. […] The study highlighted a 67% (n=26) increase in SCD births over the decade, correlating with the growth of the Black or African American population in the state.

• #30 JMIR Public Health and Surveillance – The Prevalence of Sickle Cell Disease in Colorado and Methodologies of the Colorado Sickle Cell Data Collection Program: Public Health Surveillance Study

  https://publichealth.jmir.org/2024/1/e64995

  Conclusions: The CO-SCDC program successfully established the capacity to perform SCD surveillance and, in doing so, identified baseline prevalence estimates for SCD in Colorado. […] Future efforts will expand surveillance to include claims data to better capture health care use and address potential underreporting. […] The Sickle Cell Data Collection (SCDC) program subsequently began in 2015 to expand SCD surveillance activities by collecting diagnosis, treatment, and health care use data on individuals with SCD. […] The CO Newborn Screening Program provided data from January 1, 2001, to December 31, 2020, on infants with a confirmed SCD diagnosis. […] The crude prevalence of SCD in CO in 2019 was 7.6 per 100,000 residents. […] The county with the highest rate of SCD by race or ethnicity was Adams with 230.2 cases per 100,000 Black or African American individuals, then Denver County with 149.8 cases per 100,000 Black or African American individuals, and finally Arapahoe with 142.1 cases per 100,000 Black or African Americans.

• #31 JMIR Public Health and Surveillance – The Prevalence of Sickle Cell Disease in Colorado and Methodologies of the Colorado Sickle Cell Data Collection Program: Public Health Surveillance Study

  https://publichealth.jmir.org/2024/1/e64995

  The birth prevalence of SCD in CO during a 5-year period also increased from 11.9 per 100,000 live births between 2010 and 2014 to 20.1 per 100,000 live births between 2015 and 2019, equivalent to 1 in 4974 live births. […] The increase in birth prevalence supports the population growth theory as SCD births in a 5-year period increased by 67% (n=26) between 2010 and 2019, likely due to the increase of the Black or African American population in CO and the 11.7% (n=2059) increase in the birth rate among this population in a 5-year period between 2010 and 2019.

• #32 Epidemiology of Sickle Cell Disease in Michigan, 2020 – Michigan Sickle Cell Data Collection

  https://www.miscdc.org/miscdc-comm/latta-mpha-2024/

  Sickle cell disease (SCD) is a lifelong hemoglobinopathy associated with serious health complications, including pain crises and stroke. The Michigan Sickle Cell Data Collection (MiSCDC) program is a CDC-funded, population-based surveillance system led by MDHHS and the CHEAR Center at the University of Michigan. MiSCDC combines data from multiple sources to understand population trends and healthcare utilization of persons living with SCD in Michigan. […] The objective is to describe the prevalence, demographics, healthcare utilization, and mortality of people living with SCD in Michigan. […] We identified 4,010 total persons (58% female) living in Michigan in 2020. […] MiSCDC can track trends in the epidemiology and healthcare utilization of people living with SCD in Michigan using linked data sources. These findings can be applied to understand the impacts of COVID-19 on this population as well as evaluate disease burden and identify policy targets aimed at improving the quality of life for persons living with SCD.

• #33 Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events

  https://www.mdpi.com/2409-515X/10/4/69

  In 2015, Catalonia introduced sickle cell disease (SCD) screening in its newborn screening (NBS) program along with standard-of-care treatments like penicillin, hydroxyurea, and anti-pneumococcal vaccination. […] We analyzed the incidence of SCD and related hemoglobinopathies in Catalonia and the change in clinical events occurring after introducing NBS. […] Screening 506,996 newborns from 2015 to 2022, we conducted a retrospective multicenter study including 100 screened (SG) and 95 unscreened (UG) SCD patients and analyzed SCD-related clinical events over the first six years of life. […] We diagnosed 160 cases of SCD, with an incidence of 1 in 3169 newborns. […] The first newborn screening (NBS) program for SCD was introduced in New York in 1975. […] Spain added SCD to its national mandatory NBS panel in 2013, with some regions starting earlier.

• #34 Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events

  https://www.mdpi.com/2409-515X/10/4/69

  As part of the NBS program of Catalonia, 506,996 newborns were screened for SCD from 2015 to 2022, both inclusive. […] The sensitivity of the NBS program was 98.8%, the specificity was 99.9%, the positive predictive value was 97.5%, and the negative predictive value was 99.9%. […] The incidence of SCD in Catalonia surpasses regions with similar demographic characteristics in Spain, such as Madrid (1 in 5552) and Murcia (1 in 10,000). […] The Catalonian NBS extended its scope to include additional hemoglobinopathies and to detect βS and βc allele carriers. […] The impact of NBS on patient morbidity has previously been far less explored. […] Our findings indicate that NBS reduced the median number of clinical events per year of follow-up by 50%, decreased SCD-related events by 75%, and halved the frequency of visits to the ER and hospitalizations. […] Implementing NBS for SCD in Catalonia has allowed us to calculate the incidence of SCD and other hemoglobinopathies in Catalonia, including carrier status.

• #35 Sickle Cell Disease | UKOSS | NPEU

  https://www.npeu.ox.ac.uk/ukoss/completed-surveillance/scd

  Sickle cell disease is the most common genetic disease in the UK and is associated with significant mortality and morbidity during pregnancy. […] There are no prospective national studies to estimate the incidence or outcomes of pregnancy in patients with Sickle Cell Disease. […] This study will investigate the incidence, management and outcomes for mother and infant in pregnancies where the mother has Sickle Cell Disease. […] Sickle cell disease (SCD) is the most common genetic disorder worldwide and in the UK, with 12-15,000 affected individuals in the UK. […] The numbers of deliveries in women with SCD has increased markedly over recent years, from 25-30 deliveries across the whole UK in the 1970s, to the current situation of approximately 150-250 deliveries per year. […] This lack of knowledge about incidence of pregnancy, makes it difficult to plan services, to plan optimal care, or in the long term to plan further trials into best practice. This study plans to collect data about incidence across the UK and describe current management practice.

• #36 Surveillance of sickle cell disease in pregnancy | NPEU

  https://www.npeu.ox.ac.uk/research/projects/70-ukoss-sickle-disease

  There are some historical data, mostly from outside the UK, showing a high incidence of maternal and fetal complications in sickle cell disease (SCD), but no contemporary or recent prospective data from the UK. […] The numbers of deliveries in women with SCD has increased markedly over recent years, from 25-30 deliveries across the whole UK in the 1970s, to the current situation of approximately 150-250 deliveries per year. […] This study collected data about the incidence across the UK and identified patterns of management practice. […] There were 108 confirmed cases of sickle cell disease. […] Problems were commonly reported during the pregnancy and 57 women (52%) experienced a painful sickle cell crisis during pregnancy, 14/57 were admitted to hospital with painful crisis, 8 on a single occasion, 5 patients on 2 occasions and 1 women on 4 occasions.

• #37 Surveillance of sickle cell disease in pregnancy | NPEU

  https://www.npeu.ox.ac.uk/research/projects/70-ukoss-sickle-disease

  Seven women (6%) had acute chest syndrome, a life threatening complication of sickle cell disease characterised by pulmonary signs and symptoms and infiltration on the Chest X-Ray. […] Twenty-six women (24%) received ante-natal blood transfusion. […] These results suggest that pregnancy in women with sickle cell disease is a time of significant morbidity. […] The high incidence of complications and high numbers of women receiving blood transfusion in this study suggest that the risks and benefits of prophylactic antenatal transfusion should be further investigated.

• #38 Sickle Cell Anemia: History and Epidemiology | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-319-06713-1_2

  This chapter summarizes how a simple point mutation in the human genome has evolved to become a global public health problem, as well as a remarkable example of evolutionary biology, population genetics and clinical epidemiology. […] Sickle cell anemia is a severe disease that is still associated with a high mortality in low- and middle-income countries, where simple public health interventions could help significantly in reducing its long-term health burden, and with high health-care costs in high-income countries, where life expectancy and quality of life remain suboptimal. […] Alongside huge progress in the understanding of the natural history and epidemiology of sickle cell anemia during the last century, significant gaps, discussed in this chapter, still remain, highlighting the need for further research to better prevent the adverse consequences of this disease.

• #39 Systematic Literature Review Shows Gaps in Data on Global Prevalence and Birth Prevalence of Sickle Cell Disease and Sickle Cell Trait: Call for Action to Scale Up and Harmonize Data Collection

  https://www.mdpi.com/2077-0383/12/17/5538

  The identified data were limited due to gaps in the published literature for large parts of the world population; the inconsistent reporting of SCD genotypes, diagnostic criteria, and settings; and a sparsity of peer-reviewed publications from countries with assumed high prevalence. […] This SLR demonstrated a lack of systematic knowledge and a need to provide uniform data collection on SCD prevalence and mortality. […] The objective of this study was to perform an SLR of recent publications, from 2010 to 2022, on the prevalence, birth prevalence, and mortality associated with SCD globally and regionally, and to identify any knowledge gaps.

• #40 Faculty Collaboration Database – Surveillance for the Rare Condition of Sickle Cell Disease in Wisconsin. WMJ 2022 Dec;121(4):297-300

  https://fcd.mcw.edu/?search/showPublication/id/2068501

  Surveillance for the Rare Condition of Sickle Cell Disease in Wisconsin. WMJ 2022 Dec;121(4):297-300 […] Despite universal newborn screening, there is no comprehensive surveillance system to understand the sickle cell disease population in Wisconsin. […] We initiated the development of a sickle cell disease surveillance system by linking newborn screening data and electronic health records from 2 large tertiary health care institutions in Wisconsin: Children’s Wisconsin and Froedtert Hospital. […] The new surveillance program will increase our understanding of the sickle cell disease population in Wisconsin and help improve quality of care and health outcomes.

• #41 A systematic literature review of frequency of vaso-occlusive crises in sickle cell disease | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02096-6

  Studies that considered VOCs managed at home reported a higher frequency of VOCs, suggesting that many studies may underestimate the frequency of VOCs. […] This systematic literature review (SLR) highlights the need for consistent reporting of (1) self-reported VOCs, including those managed at home, (2) definitions of VOCs, (3) complicated VOCs, and (4) duration of VOC episodes in literature. […] The objective of this systematic literature review (SLR) is to summarize published literature describing the frequency of study-defined VOCs experienced by pediatric and adult patients with SCD as reported in real-world settings globally. […] The following research questions were assessed in the real-world setting: (1) How are VOCs defined? (2) What is the annual frequency of VOCs? (3) What is the duration of a VOC? (4) How often are VOCs managed in different care settings?

• #42 A systematic literature review of frequency of vaso-occlusive crises in sickle cell disease | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02096-6

  Sickle cell disease (SCD) is a collection of rare inherited blood disorders affecting approximately 100,000 people in the U.S. and 2025 million people globally. […] VOCs are the primary cause of hospitalization in SCD, result in missed workdays and school days, and decrease quality of life (QoL). […] This systematic literature review sought to identify literature describing the frequency of VOCs experienced by individuals with SCD in real-world settings. […] Reported frequency of VOCs varied widely ranging from a mean or median of 0 VOCs/year to 18.2 VOCs/year. […] The proportion of patients experiencing 3 VOCs/year ranged from 4 to 67% and the proportion of patients experiencing 5 VOCs/year ranged from 18 to 59%. […] This is the first study to systematically assess published evidence pertaining to VOCs in real-world settings.

• #43 A systematic literature review of frequency of vaso-occlusive crises in sickle cell disease | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02096-6

  Overall there is variability in the definition of VOC in literature. […] Reported mean or median VOC frequency varied widely in literature with a minimum of 0 VOCs/year to a maximum of 18.2 VOCs/year. […] The majority of studies identified in this SLR only considered VOCs managed in an inpatient or outpatient setting. […] Among those studies in this SLR that included self-reported VOCs or those managed in a home setting, the mean annualized frequency was generally higher, ranging from 5.2 to 13.6 VOCs/year. […] Few studies reported measures of VOC severity including the frequency of complicated VOCs, such as ACS, priapism, and hepatic/splenic sequestration. […] This SLR highlights the need for consistent reporting of (1) self-reported VOCs, including those managed at home, (2) definitions of VOCs, (3) complicated VOCs, and (4) duration of VOC episodes in literature.

• #44 3 Screening, Registries, and Surveillance | Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action | The National Academies Press

  https://nap.nationalacademies.org/read/25632/chapter/5

  Attempts to gather data about the SCD population must be governed by strict patient privacy and confidentiality rules to ensure that the data are not used to discriminate against minority patients, who have a long history of mistreatment in the medical system. […] The most successful example of the collection and use of population-wide data on SCD is NBS for SCD and SCT in the United States, which is now universal across all 50 states and the District of Columbia. […] Registries and surveillance systems have been in development for SCD for some time, and they show great promise for capturing much needed information about those living with the disease, their care, and their outcomes. […] Public health surveillance of SCD in the United States is typically conducted by state governments.

• #45 Making the case to improve outcomes for sickle cell disease – UAB News

  https://www.uab.edu/news/research-innovation/making-the-case-to-improve-outcomes-for-sickle-cell-disease

  Given the importance and power of systematic surveillance data, it is clear that a national SCD surveillance system should be congressionally funded and used in conjunction with longitudinal clinical registries for SCD as clearly stated by the recommendations proposed by the National Academies of Science, Engineering and Medicine, Kanter said.

• #46 3 Screening, Registries, and Surveillance | Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action | The National Academies Press

  https://nap.nationalacademies.org/read/25632/chapter/5

  The creation of the Registry and Surveillance System for Hemoglobinopathies (RuSH), a cooperative agreement among CDC, NHLBI, and seven states with significant populations of people living with SCD and thalassemia, was one outcome of this summit and its recommendations. […] California, Georgia, and CDC have continued this work with the Sickle Cell Data Collection (SCDC) program, which has been funded privately by the CDC Foundation since 2015. […] Public health surveillance may use fewer resources than more intensive methods of gathering information on the SCD population, particularly when considered as cost per patient or per year of data included.

• #47 Sickle Cell Disease and Other Heritable Blood Disorders Research, Surveillance, Prevention, and Treatment Act of 2018 (S.2465) Passes – AAEM

  https://www.aaem.org/news/sickle-cell-disease-and-other-heritable-blood-disorders-research-surveillance-prevention-and-treatment-act-of-2018-s-2465-passes/

  On July 18, 2018, the Sickle Cell Disease Coalition sent a letter to the Senators Lamar Alexander and Patty Murray with other members of the Senate HELP Committee copied. AAEM signed on to the letter as part of the Coalition and supported Senators Alexander and Murry in their work to pass S. 2465. The bill officially passed in the Senate on December 11, 2018 and was signed by the President on December 18, 2018. […] The Sickle Cell Disease Research, Surveillance, Prevention and Treatment Act of 2018 is bipartisan legislation introduced by Senators Tim Scott (R-SC) and Cory Booker (D-NJ). […] Authorizes a SCD surveillance program.

• #48 H.R. 3884, Sickle Cell Disease and Other Heritable Blood Disorders Research, Surveillance, Prevention, and Treatment Act of 2023 | Congressional Budget Office

  https://www.cbo.gov/publication/59857

  H.R. 3884 would authorize the appropriation of $8 million each year from 2024 through 2028 for the Centers for Disease Control and Prevention and the Health Resources and Services Administration to conduct research, surveillance, prevention, and treatment of sickle cell disease and related blood disorders. […] Based on historical spending patterns for those activities and assuming the appropriation of the authorized amounts, CBO estimates that implementing the bill would cost $37 million over the 2024-2028 period and $4 million after 2028.

• #49 Michigan Sickle Cell Data Collection (MiSCDC) Program | CHEAR

  https://chear.org/research/projects/MiSCDC

  The Michigan Sickle Cell Data Collection (MiSCDC) Program is a strategic collaboration led by the Susan B. Meister Child Health Evaluation and Research (CHEAR) Center at the University of Michigan and the Michigan Department of Health and Human Services (MDHHS). […] Through this collaboration, we ensure the implementation of sickle cell disease surveillance in Michigan and the successful collection and submission of aggregate sickle cell disease surveillance data to the CDC. […] While all SCD cases are identified at birth, there is no ongoing national surveillance of SCD. This results in significant knowledge gaps about the natural history of the disease. […] In the absence of population-based surveillance, significant improvements in the health of the SCD community will remain elusive.

• #50 State-University Partnership to Implement Public Health Surveillance for Sickle Cell Disease in Michigan – Michigan Sickle Cell Data Collection

  https://www.miscdc.org/miscdc-comm/baker-cste-2023/

  Sickle cell disease (SCD) is a rare genetic blood disorder that primarily affects Black and Hispanic racial and ethnic groups. […] To establish a public health surveillance system for SCD in Michigan, there were three main objectives: 1) implement standardized methods for SCD surveillance, 2) engage stakeholders with interest in SCD, and 3) communicate findings. […] To implement standardized methods for SCD surveillance, UM acquired, linked, and analyzed over a dozen sources of state-maintained and clinical data to identify and longitudinally follow people with SCD in Michigan. […] To date, the MiSCDC program has reported two years of aggregate-level surveillance data to the CDC, with reports to follow annually. […] Development of a public health surveillance system using a state-university partnership is feasible to implement a state-wide data collection program for a rare, chronic disease. […] The MiSCDC state-university partnership is strategically structured to conduct surveillance activities, disseminate findings to the public, and inform public health decision-making to improve the lives of people with SCD.

• #51 Sickle cell disease complications: Prevalence and resource utilization | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0214355

  Sickle cell disease (SCD) is a life-threatening genetic disorder affects ~100,000 individuals in the United States, where it is one of the most common genetic blood disorders. […] SCD has been associated with high utilization of medical care, such as ER visits and hospitalization, as observed in a study finding that as high as 53% of SCD patients who had ER visits subsequently required inpatient stays in hospitals or other treatment facilities. […] Studies have shown that VOC is the main cause of most SCD health care utilization or medical contact, and high health care utilization among SCD patients remains prevalent due to poor acute pain management. […] In summary, SCD and its related comorbidities and complications result in high acute health care utilization. In addition, VOC remains the primary reason for SCD patients ER visits and inpatient admissions.

• #52 Burden of sickle cell disease | IJGM

  https://www.dovepress.com/the-burden-of-sickle-cell-disease-in-saudi-arabia-a-single-institution-peer-reviewed-fulltext-article-IJGM

  Over the 6-year study period, 3826 emergency department (ED) visits and 891 admissions were attributed to SCD complications, including 33 admissions to the intensive care unit. VOC was the main reason for admission in more than 90% of cases. […] More than half of the patients (n= 93, 58%) were readmitted during the study period. Of the 891 admissions, 218 (24.5%) were within 30 days of discharge, of which 71 (32.5%) were within 7 days of discharge. In contrast, 121 (13.6%) and 95 (10.8%) readmissions occurred within 60 and 90 days, respectively. […] We observed significant rates of acute care utilization in the form of high numbers of ED visits, recurrent admissions, and length of stay. More than half of the patients were rehospitalized at least once during the study period. Approximately 25% of readmissions occurred within 30 days, which is comparable to that reported in previous studies. […] The average number of admissions and ED visits per patient is one admission and four ED visits. The average Length of stay during the study period was 6.4 days. The readmission rates at 7, 30, 60, and 90 days were 8%, 24.5%, 13.6%, and 10.8%, respectively.

• #53 Burden of sickle cell disease | IJGM

  https://www.dovepress.com/the-burden-of-sickle-cell-disease-in-saudi-arabia-a-single-institution-peer-reviewed-fulltext-article-IJGM

  Sickle cell disease (SCD) is a significant burden for patients and healthcare systems due to multiple factors, including high readmission rates. This study aimed to determine the general characteristics, etiology of admissions, annual admission rate, length of stay, and readmission rate of patients with SCD. […] The average annual number of emergency department (ED) visits was 4, and approximately 19% of patients had 3 annual admissions. The mean length of stay was 6 days. The readmission rates at 7, 30, 60, and 90 days were 8%, 24.5%, 13.6%, and 10.8%, respectively. […] SCD generates a significant economic burden on the Saudi society and the effects on the healthcare system and patients quality of life are evident in the high ED visits, readmission rates and prolonged hospitalization.

• #54 World Sickle Cell Awareness Day: Navigating the Present and Shaping the Future of Sickle Cell Disease

  https://www.ajmc.com/view/world-sickle-cell-awareness-day-navigating-the-present-and-shaping-the-future-of-sickle-cell-disease

  World Sickle Cell Awareness Day was officially established on June 19, 2009. Each year, observing this day grants opportunities to further educate the public understanding of SCD and shed light on the innovations, challenges, and barriers that clinicians, patients, families, and caregivers face in their efforts to mitigate the detrimental effects of this rare blood disorder. […] In the US, newborn screening for SCD only began within the last 50 years and wasn’t widely adopted until 1986. Even with this progress, the transition to adult care presents significant challenges. Adult programs for SCD are often under-resourced, leading many patients to rely on emergency care rather than regular, preventive treatment. This dependence on the emergency department (ED) results in a staggering $3 billion annual burden on the US health care system.

• #55 World Sickle Cell Awareness Day: Navigating the Present and Shaping the Future of Sickle Cell Disease

  https://www.ajmc.com/view/world-sickle-cell-awareness-day-navigating-the-present-and-shaping-the-future-of-sickle-cell-disease

  Additionally, decades of mistrust in the health care system have left many African American patients with SCD at a significant disadvantage. Socioeconomic disparities often mean that these individuals lack insurance and the financial resources necessary for long-term disease management. This situation is compounded by discrimination in hospital settings, where African American patients seeking emergency care for severe pain face biases that can hinder their treatment. […] Addressing these barriers to SCD care has become a priority as awareness increases. According to Hartfield, the past year has marked a significant era of advancement and advocacy for the SCD community. With renewed governmental attention and a surge in legislative activities, the landscape of care and treatment for SCD is evolving.

• #56 Frontiers | Sickle cell disease: a comparative perspective on global and national initiatives

  https://www.frontiersin.org/journals/hematology/articles/10.3389/frhem.2024.1457158/full

  […] […] The WHO’s guidance frameworks for SCD in Africa and globally aim to enhance care through strategic policies and advocacy. The SICKLE technical package integrates interventions, education, and community empowerment. These frameworks emphasize early diagnosis through newborn screening, public education, and improved access to healthcare services. According to McGann et al., early diagnosis and intervention have resulted in decreased mortality rates among children with SCD in several African countries. The WHO’s efforts have also led to the establishment of national programs that enhance the availability of comprehensive care, including vaccination, prophylactic antibiotics, and pain management strategies. […] […] […] Nigeria’s National Sickle Cell Disease Control Program has made substantial strides in improving the management and outcomes of sickle cell disease (SCD). This program focuses on comprehensive strategies, including early screening, public education, and enhanced healthcare access. A study found that the program’s newborn screening initiatives have significantly improved early diagnosis and treatment, leading to better clinical outcomes and reduced mortality rates among children with SCD in Nigeria.

• #57 Sickle Cell Disease Programs | MCHB

  https://mchb.hrsa.gov/programs-impact/programs/sickle-cell

  Sickle cell disease (SCD) is an inherited red blood cell condition affecting more than 100,000 people in the United States. […] Each year, newborn screening programs find about 1,800 babies who have this condition. […] SCD occurs most often among people of African ancestry. One in 365 African American babies are born with SCD. […] Since the 1960s, we have worked to equip our health care systems so that they find and treat people with the disease as soon as possible. […] From 2017-2021, the HRSA-funded investments have: Reached more than 25% of all people with SCD through 51 clinical sites and 49 community-based organizations. This is about 25,000 people. […] The goal of this program is to make sure that every person living with SCD has access to a sickle cell-based expert. […] Together with the TDP program, the goal of the FP program is that every person with SCD has access to a comprehensive care team. […] It provides the awardees of our Treatment Demonstration Program (TDP) and the Follow-Up Program (FP) with the resources they need to make sure that they provide the best care teams to these children and their families.

• #58 Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02951-8

  Some initiatives have helped improve the visibility of this topic, such as the European Haematology Association (EHA) and the British Society for Haematology (BSH) highlighting these conditions as requiring additional focus. […] The European SCD educational plan is endorsed by the ERN-EuroBloodNet, the ERN on Rare Haematological Diseases. […] In a collaboration between ERN-EuroBloodNet, Oxford Blood Group, Annual Sickle Cell Disease and Thalassaemia Conference (ASCAT), EHA and BSH we set out to develop both a research prioritization workshop with people living with SCD, as well as a series of education sessions based on topics chosen by patients. […] The overall design of this project was to embed the patient sessions in the ASCAT conference, an established international scientific congress focusing on SCD.

• #59 Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02951-8

  One established methodology for research priority setting is the James Lind Alliance (JLA) Priority Setting Partnership (PSP) model. […] The Top 10 were selected by highest number of votes. […] While the top priority for patients is to find a universally available cure, it is of note that quality of life as well as social and political issues were high on the agenda, and represent topics that the research community should focus on in addition to biological issues traditionally funded. […] The first relevant result obtained from the experience of ASCAT 2019 and the research prioritization workshop for public patient involvement in research was that the focus of investigation from patients point of view differs from the health professionals one. […] Patients point of view on priorities for research was given to social and political aspects like quality of life, stigma or racism; or even complementary therapy.

• #60 Frontiers | Sickle cell disease: a comparative perspective on global and national initiatives

  https://www.frontiersin.org/journals/hematology/articles/10.3389/frhem.2024.1457158/full

  […] […] Future research avenues for sickle cell disease (SCD) prevention are multifaceted and highly promising. A key area of focus is the advancement of gene editing technologies, such as CRISPR-Cas9, which have the potential to correct the genetic mutation responsible for SCD at its source, offering a permanent cure. Research into safer and more efficient delivery methods for these gene therapies is critical to ensure their accessibility and effectiveness.

• #61 Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000–2021 | Institute for Health Metrics and Evaluation

  https://www.healthdata.org/research-analysis/library/global-regional-and-national-prevalence-and-mortality-burden-sickle-cell

  Widespread data gaps and correspondingly high uncertainty in the estimates highlight the urgent need for routine and sustained surveillance efforts, further research to assess the contribution of conditions associated with sickle cell disease, and widespread deployment of evidence-based prevention and treatment for those with sickle cell disease.

• #62 Common Data Infrastructure Feasible, Useful for Sickle Cell Disease Surveillance – Georgia Health Policy Center

  https://ghpc.gsu.edu/2023/06/02/common-data-infrastructure-feasible-useful-for-sickle-cell-disease-surveillance/

  A common informatics infrastructure is feasible to standardize processes and data comparisons for sickle cell disease across states, according to a study recently published by Sickle Cell Data Collection Program researchers in JAMIA Open. […] The Sickle Cell Data Collection Program (SCDC) is funded by the Centers for Disease Control and Prevention (CDC) and is currently active in 11 states. […] The Core Surveillance Data Instrument of the Common Data Model for sickle cell disease was piloted in Tennessee, North Carolina, and Michigan. […] Not only does this common data model strengthen our networks ability to analyze data across state sickle cell disease populations, but it also provides a blueprint for expanding sickle cell data collection or establishing similar public health surveillance efforts for other rare diseases, says GHPC senior research associate and coauthor Brandon Attell.

• #63 Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02951-8

  Sickle cell disease (SCD) is an inherited chronic life-threatening disorder with increasing prevalence in Europe. […] SCD prevalence is increasing in other geographical areas due to global population movements. […] The World Health Organization has recognized this haematological condition as a public health area for which a global set of interventions are required, including development of new drugs and curative procedures, universal newborn screening, genetic counselling, medical education, clinical research, the development of clinical practice guidelines, access to highly specialized procedures, as well as patient advocacy and awareness campaigns. […] Nevertheless, the implementation of specific strategies at national level to tackle this condition is variable across EU members. […] Improving the involvement of patients without an established voice in the development of research related to SCD may help to ensure that future research meets the needs of patients and improves access to educational opportunities.

• #64 Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02951-8

  The participation of seventy-six SCD patients or carers in these two European meetings with a dedicated space to be trained and express themselves may contribute in reducing the stigma of this chronic hematological disorder. […] Following these events, a patient forum was created and has resulted in increasing participation from patients in successive conferences. […] The ERN-EuroBloodNet workshops with patients at ASCAT conferences have provided an opportunity to enhance patient experience and empowerment in SCD in Europe and identify areas of priorities for patients and their caregivers.

• #65 JMIR Public Health and Surveillance – Evaluating the Discriminatory Ability of the Sickle Cell Data Collection Program’s Administrative Claims Case Definition in Identifying Adults With Sickle Cell Disease: Validation Study

  https://publichealth.jmir.org/2023/1/e42816/

  Current SCD surveillance efforts are expanding as the SCDC program receives additional federal funding to extend to additional states. […] These findings demonstrate the importance of continued data collection and support for the SCDC program, which will allow for additional refinement of surveillance-based case definitions for SCD.

• #66 Georgia’s SCD surveillance program gets fresh support from CDC | Sickle Cell Disease NewsEnvelope icon

  https://sicklecellanemianews.com/news/georgias-scd-surveillance-program-gets-fresh-support-from-cdc/

  Effort now represents about a third of U.S. sickle cell population […] The Georgia State University Research Foundation has received a grant from the Centers for Disease Control and Prevention (CDC) to support the ongoing Sickle Cell Data Collection (SCDC) program in that state. […] Established by the CDC in 2015, the program seeks to assess the frequency of sickle cell disease (SCD) in a particular state, and understand how it impacts patients’ health and how researchers and physicians can improve SCD care. Georgia and California were the first two states to participate. The program was expanded to nine states in 2019 and now covers 11 states. It’s estimated to represent about a third of the country’s SCD population. […] The SCDC program’s primary goal is to improve the quality of life, life expectancy, and health of those living with SCD. This requires a combined effort from healthcare providers and administrators, pharmaceutical companies, SCD community organizations, policymakers, and public health organizations, along with patients and their advocates.

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