Prevalence Of Sickle Cell Disease Research Articles

Genetic Patterns of Oral Cavity Microbiome in Patients with Sickle Cell Disease.

The Middle Eastern prevalence of sickle cell anemia, a genetic disorder that affects red blood cells, necessitates additional research. On a molecular level, we sought to identify and sort the oral microbiota of healthy individuals and those with sickle cell anemia. Furthermore, it is crucial to comprehend how changes in the genetic makeup of the oral microbiota impact the state of sickle cell anemia. Using next-generation sequencing, the 16S rRNA amplicon was examined using saliva samples from 36 individuals with sickle cell anemia and healthy individuals. These samples were obtained from sickle cell anemia patients (18 samples) and healthy control participants (controls, 18 samples). Various analyses are conducted using bioinformatic techniques to identify distinct species and their relative abundance. Streptococcus, followed by Fusobacterium nucleatum, Prevotella, and Veillonella were the most prevalent genera of bacteria in the saliva of the SCA and non-SCA individuals according to our findings. Rothia mucilaginosa, Prevotella scoposa, and Veillonella dispar species were the dominant species in both sickle cell anemia and non-sickle cell anemia subjects. Streptococcus salivarius, Actinomyces graevenitzii, Actinomyces odontolyticus, and Actinomyces georgiae spp. were the most prevalent bacterial spp. in the studied SCA cases. The sequencing of the 16S rRNA gene yielded relative abundance values that were visualized through a heatmap analysis. Alterations in the oral microflora's constitution can significantly affect the susceptibility of sickle cell anemia patients to develop more severe health complications. Salivary diagnosis is a potential tool for predicting and preventing oral microbiome-related diseases in the future.

Point-of-Care Newborn Screening for Sickle Cell Disease at Selected Health Facilities in the Gambia

Sickle cell disease (SCD) contributes significantly to childhood morbidity and mortality in sub-Saharan Africa. Early diagnosis through newborn screening (NBS) and subsequent comprehensive follow-up care will reduce the burden. Up till now, the prevalence of SCD among newborns remains unknown in The Gambia and there is no national NBS programme to address this significant public health issue. We assessed the real-time frequency of SCD in the country and determined differences in the pattern of SCD phenotypes among different ethnic groups. A preliminary prospective feasibility study was done in eight purposively selected hospitals in the seven Health Administrative Regions and Banjul. Consecutive newborn babies delivered or managed in these facilities were screened using HemoTypeSC, a sensitive and specific ELISA-based point-of-care test (POCT). Babies identified as SCD with HemoTypeSC were retested at age ≥6 months using alkaline cellulose acetate hemoglobin electrophoresis (ACAE). Head-to-head comparison between HemoType screening and gold standard HPLC could not be done. 1,168 newborn babies were screened from April 14 to August 12, 2023. Fifteen (1.3%) had homozygous HbS (HbSS), two (0.2%) heterozygous for HbS and HbC (HbSC), 204 (17.5%) had sickle cell trait (HbAS), four (0.3%) heterozygous for HbA and HbC (HbAC), and 943 (80.7%) had normal hemoglobin (HbAA). The 17 with SCD (HbSS and HbSC) comprised of 7 (2.2%) of 324 Fula; 6 (1.4%) of 426 Mandinka; 2 (1.6%) of 125 Jola and 2 (1.3%) of 150 Wolof. Fourteen (82.4%) of the 17 accepted the diagnosis and were enrolled into the SCD program. For these 14, HemoTypeSC had 100% sensitivity with ACAE when repeated at age ≥6 months. In addition to determining the real-time newborn prevalence of SCD and trait in The Gambia for the first time, this pilot study showed that SCD-POCT is feasible in Gambian health facilities.

Determination of birth prevalence of sickle cell disease using point of care test HemotypeSC™ at Rundu Hospital, Namibia

BackgroundSickle cell disease (SCD), a noncommunicable disease, has the greatest burden in sub-Saharan Africa. The majority of children (50–90%) with SCD die before their 5th birthday, with approximately 150,000–300,000 annual SCD child deaths in Africa. In developed countries, newborn screening (NBS) has been shown to improve the survival of children with sickle cell disease, with under5 childhood mortality reduced tenfold due to interventions performed before the development of complications. Point –of-care tests have been developed for resource limited settings to expand NBS. The aim of this study was to determine the birth prevalence of sickle cell disease in Namibia using the HemoTypeSC™ point-of-care test.MethodsA cross-sectional descriptive study was carried out at Rundu Intermediate Hospital in the Kavango East Region. Two hundred and two (202) well newborns within 72 h of birth were recruited for the study from 22 February to the 23th March 2023. Descriptive statistics were used to compute the haemoglobin types of the study participants.ResultsThe majority of the participants (n = 105, 52%) were females, and (n = 97,48%) were males. The median age of the participants was 23 h (Q1, Q3; 11; 33),) with an age range of 2–98 h. Sickle cell trait was present in 9.4% of the screened newborns, no homozygous disease was detected, and 90.6% had Hb AA.ConclusionsThis study is the first to measure HbS gene carriage at birth using HemotypeSC point-of-care testing in Namibia. There was a moderate prevalence of sickle cell traits but no SCD. This baseline study may provide the foundation for larger epidemiological surveys to map HbS gene carriage in Namibia to provide evidence for policy makers to fashion appropriate SCD newborn screening services.

Evaluation of anti-sickling effects of two varieties of Cajanus cajan (L.) Huth on sickle cell beta thalassemia

Ethno-pharmacological relevance: Globally, the prevalence of sickle cell disease is on the rise, with developing countries experiencing particularly alarming mortality rate compared to developed nations. The World Health Organization (WHO) and United Nations (UN) have acknowledged sickle cell disease as a significant global public health concern. Unfortunately, a cure for this condition is yet to be discovered, and existing allopathic treatments, while offering relief, come with serious side effects. In recent times, there has been a growing interest in exploring the potential of medicinal plants for treating sickle cell disease due to their content of secondary metabolites that may impact the disease's mechanisms. Cajanus cajan, a crucial grain legume in rain-fed agriculture in semi-arid tropics, has been traditionally used in folk medicine to manage various illnesses and is suggested to possess anti-sickling properties.Aim of the study: The present study investigated two varieties of C. cajan for their effectiveness in treating sickle cell beta thalassemia, a variant of sickle cell disease. Materials and methodsThe study was divided into four groups consisting of the untreated group (group 1), group treated with standard drug (group 2), group treated with white C. cajan (group 3) and group treated with brown C. cajan (group 4). The effects of the two variety of C. cajan were measured by polymerization test, reversibility test, osmotic fragility test, deoxygenation and beta globin synthesis test. ResultThe results revealed that both varieties of C. cajan demonstrated a reduction in polymerization rates, reversed sickled red blood cells, increased the oxygen affinity of Hb-S/β, elevated the Fe2+/Fe3+ ratio, and maintained the membrane stability of red blood cells. Notably, the white variety exhibited superior anti-sickling properties compared to the brown variety. ConclusionThis suggests that this significant leguminous crop could be utilized for the treatment and management of sickling disorders, particularly in low-income countries where conventional treatments may be financially inaccessible to patients.

Blood count abnormalities in the association of sickle cell disease and malaria in clinical hematology at the CNHU-HKM in Cotonou (Bénin)

Although a protective effect of hemoglobin S has been described, malaria has frequently been associated with increased morbidity and mortality in sickle cell disease patients in Africa. Various cytopenias are frequently found on the haemograms of these patients. In Benin, a malaria-endemic zone with a high prevalence of sickle cell disease, the aim of this study was to establish and compare the blood count profile according to hemoglobin type in the association of sickle cell disease and malaria. This was a prospective descriptive study. It covered a 24-month period from October 2020 to October 2022. It included all patients with major sickle cell syndrome seen in clinical haematology and with a positive thick drop/parasite density, whatever the parasitaemia value. For each patient, a blood count was performed on the Sysmex XT 4000i machine, supplemented by a smear study after staining with May-Grunwald Giemsa. Data were analyzed using R 3.6.1 software. Three hundred non-redundant cases with a positive thick smear were identified in sickle cell patients, including 208 SS homozygotes (69.3%) and 92 SC heterozygotes (30.7%). In contrast, there were 181 non-redundant cases with a negative thick smear, including 119 SS homozygotes (65.7%) and 62 SC heterozygotes (34.3%). Among subjects with a positive thick smear, the majority of patients (70%) exhibited clinical symptoms. Severe malaria was observed in 58% of the cases. The proportion of severe malaria was higher in SS homozygote patients than in double heterozygote SC patients (p < 0.0001). The mean parasite density was higher in SS individuals (4 320.7 ± 2 185 trophozoites/pL) compared to SC individuals (1 564.4 ± 1 221 trophozoites/pL; p < 0.0001). Plasmodium falciparum was the only species identified. The mean hemoglobin level in impaludated SS subjects was 6.1 g/dL, significantly lower than that in non-impaludated SS subjects (p < 0.0001). The average white blood cell count in impaludated SS subjects was 16.58 G/L, compared to 13.2 G/L in those with a negative thick smear (p < 0.0001). Twenty cases of thrombocytopenia were found in SS subjects with a positive thick smear, compared to 6 cases in those with a negative thick smear. As for SC subjects with a positive thick smear, the average hemoglobin levels and white blood cell counts were 9.8 g/dL and 10.63 G/L, respectively, compared to 11.27 g/dL and 7.3 G/L in SC subjects with a negative thick smear. Eighteen cases of thrombocytopenia were found in subjects with a positive thick smear, compared to 17 cases in those with a negative thick smear. Sickle cell disease and malaria represent two major public health problems. However, contrary to popular belief, sickle cell disease is not immune to malaria infestation. Malaria is recognized as one of the main causes of morbidity and mortality in sickle cell patients, particularly children. In Benin, its association with sickle cell emergencies has already been reported.Our study found that malaria was predominantly associated with the homozygous SS form (p < 0.00001). Severe malaria was the most common clinical form. All malaria infestations in our series were due to Plasmodium falciparum, and parasitaemia was significantly higher in SS patients (p < 0.0001).The hematological profile of the association of sickle cell disease and malaria in homozygous SS individuals in our series showed characteristics of a normocytic normochromic anemia with neutrophil-predominant leukocytosis. Compared to non-malaria-infected SS individuals, there was a significant worsening of anemia, neutrophil-predominant leukocytosis, and a decrease in the average platelet count. In SC individuals, there was rather a microcytic normochromic regenerative anemia associated with neutrophil-predominant leukocytosis. Compared to non-malaria-infected SC individuals, there was a significant decrease in the rate of anemia and neutrophil-predominant leukocytosis. Anemia is a constant feature in homozygous sickle cell disease, and the low values recorded illustrate the hemolytic nature of malaria, especially in SS individuals, and the better tolerance of SC individuals. Furthermore, the low baseline hemoglobin levels make SS individuals more vulnerable to malaria-induced anemia compared to SC individuals. The observed leukocytosis is generally accompanied by reticulocytosis in the case of major sickle cell syndrome, which must be taken into account for result validation. It is the expression of compensatory bone marrow reaction to anemia and inflammatory mechanisms resulting from malaria infestation. Finally, thrombocytopenia was significantly more common in SC patients, even though they were adults living in malaria-endemic areas. Malaria can frequently induce thrombocytopenia through platelet consumption during the "rosetting" phenomenon. In SS patients, the effects of "rosetting" could be compensated for by the bone marrow stimulation induced by anemia. In our series with adult subjects living in an endemic area, thrombocytopenia is not a frequent biological disturbance. In a clinicalbiological context combining a systemic inflammatory response syndrome with anemia and neutrophil-predominant leukocytosis in a SS or SC sickle cell patient, the clinician should be able to consider malaria and confirm or rule out this diagnosis.

Birth Prevalence of Sickle Cell Disease and County-Level Social Vulnerability - Sickle Cell Data Collection Program, 11 States, 2016-2020.

Sickle cell disease (SCD) remains a public health priority in the United States because of its association with complex health needs, reduced life expectancy, lifelong disabilities, and high cost of care. A cross-sectional analysis was conducted to calculate the crude and race-specific birth prevalence for SCD using state newborn screening program records during 2016-2020 from 11 Sickle Cell Data Collection program states. The percentage distribution of birth mother residence within Social Vulnerability Index quartiles was derived. Among 3,305 newborns with confirmed SCD (including 57% with homozygous hemoglobin S or sickle β-null thalassemia across 11 states, 90% of whom were Black or African American [Black], and 4% of whom were Hispanic or Latino), the crude SCD birth prevalence was 4.83 per 10,000 (one in every 2,070) live births and 28.54 per 10,000 (one in every 350) non-Hispanic Black newborns. Approximately two thirds (67%) of mothers of newborns with SCD lived in counties with high or very high levels of social vulnerability; most mothers lived in counties with high or very high levels of vulnerability for racial and ethnic minority status (89%) and housing type and transportation (64%) themes. These findings can guide public health, health care systems, and community program planning and implementation that address social determinants of health for infants with SCD. Implementation of tailored interventions, including increasing access to transportation, improving housing, and advancing equity in high vulnerability areas, could facilitate care and improve health outcomes for children with SCD.

Understanding Knowledge, Attitude, and Practices towards Sickle Cell Disease among Adult Outpatients: Insights from Lira Regional Referral Hospital, Northern Uganda

This study investigates the knowledge, attitude, and practices (KAP) regarding sickle cell disease (SCD) among adult outpatients at Lira Regional Referral Hospital (LRRH) in Northern Uganda. Employing a descriptive cross-sectional qualitative approach, data were collected from 100 adult patients aged 18 years and above attending the general outpatient department (OPD) at LRRH. Results revealed a substantial level of awareness of SCD among respondents, predominantly sourced from healthcare facilities and media outlets. While many recognized SCD as hereditary, misconceptions regarding its etiology and symptoms were evident. Notably, there was a knowledge gap regarding the treatability of SCD. Attitudes towards marrying individuals with SCD were predominantly negative, reflecting concerns about genetic transmission. However, there was a positive inclination towards premarital SCD testing. Regarding practices, reliance on medical facilities for SCD treatment was predominant, with minimal engagement with alternative therapies. Recommendations include sustained awareness campaigns, integration of SCD prevention and control initiatives, and further research to elucidate regional SCD prevalence determinants. Efforts to enhance male involvement in SCD advocacy and capacity building among healthcare providers are advocated to optimize SCD management and prevention strategies within the community. Keywords: Knowledge, Attitude, Practices, Sickle Cell Disease, Outpatients

Translation, transcultural adaptation, and validation of PedsQL 3.0 Sickle Cell Disease Module into Brazilian Portuguese.

Despite the high prevalence of sickle cell disease (SCD) in Brazil, no studies have described the validation of an SCD-specific health-related quality-of-life (HRQoL) instrument in children. We validated PedsQL 3.0 Sickle Cell Disease Module (PedsQL-SCD) for Brazilian Portuguese, and cross-validated it with PedsQL 4.0 Generic Core Scale (PedsQL-GCS) in children with SCD. PedsQL-SCD was translated and culturally adapted using forward and reverse translations. PedsQL-SCD and PedsQL-GCS were tested in children and adolescents with SCD aged 2-18years and their caregivers. Validity was assessed using the Pearson and intraclass correlation coefficients, and reliability measured with Cronbach's alpha. PedsQL-SCD was validated in 206 children with SCD (median age 14years, range: 8-18) and 201 caregivers. Among patients and caregivers, the mean total score for PedsQL-SCD was 65.7 and 64.1, respectively. The mean total score for PedsQL-GCS was 73.1 and 68.9 among patients and caregivers, respectively. The internal consistency for PedsQL-SCD and PedsQL-GCS was good; Cronbach's alpha coefficients ranged from .59-.93 to .64-.83 among patients and from .60-.95 to .65-.85 among caregivers, respectively. Most intercorrelations between PedsQL-SCD and PedsQL-GCS, for patients and caregivers, had medium to large effect sizes (range: .23-.63 and .27-.64, respectively). Pain and pain impact domains of PedsQL-SCD and physical dimension of PedsQL-GCS had the highest cross-correlation (.63 and .6 for patients; .63 and .64 for caregivers, respectively), confirming convergent construct validity. PedsQL-SCD is a valid, culturally appropriate measure to assess HRQoL in children with SCD in Brazil and is well-correlated PedsQL-GCS.

Sickle Cell Disease Update: New Treatments and Challenging Nutritional Interventions.

Sickle cell disease (SCD), a distinctive and often overlooked illness in the 21st century, is a congenital blood disorder characterized by considerable phenotypic diversity. It comprises a group of disorders, with sickle cell anemia (SCA) being the most prevalent and serious genotype. Although there have been some systematic reviews of global data, worldwide statistics regarding SCD prevalence, morbidity, and mortality remain scarce. In developed countries with a lower number of sickle cell patients, cutting-edge technologies have led to the development of new treatments. However, in developing settings where sickle cell disease (SCD) is more prevalent, medical management, rather than a cure, still relies on the use of hydroxyurea, blood transfusions, and analgesics. This is a disease that affects red blood cells, consequently affecting most organs in diverse manners. We discuss its etiology and the advent of new technologies, but the aim of this study is to understand the various types of nutrition-related studies involving individuals suffering from SCD, particularly in Africa. The interplay of the environment, food, gut microbiota, along with their respective genomes collectively known as the gut microbiome, and host metabolism is responsible for mediating host metabolic phenotypes and modulating gut microbiota. In addition, it serves the purpose of providing essential nutrients. Moreover, it engages in direct interactions with host homeostasis and the immune system, as well as indirect interactions via metabolites. Nutrition interventions and nutritional care are mechanisms for addressing increased nutrient expenditures and are important aspects of supportive management for patients with SCD. Underprivileged areas in Sub-Saharan Africa should be accompanied by efforts to define and promote of the nutritional aspects of SCD. Their importance is key to maintaining well-being and quality of life, especially because new technologies and products remain limited, while the use of native medicinal plant resources is acknowledged.

Hospital Prevalence of Sickle Cell Disease in Children Under 5 Years of Age in a Region of the Democratic Republic of Congo

Backgroung: The burden of sickle cell disease in hospitals is less described in both children and adults where there is a lack of universal screening programs. This is more observed in low-income countries and compromises the life expectancy of people with unrecognized major sickle cell disease. The objective of this study was to estimate the more or less concrete burden of sickle cell disease in pediatric hospitals, mainly in children under 5 years of age. Materials &amp; methods: To do this, a cross-sectional and descriptive survey was carried out at the level of the pediatric services of 5 health facilities of the City of Kindu, capital of the province of Maniema in the Democratic Republic of the Congo from December 2, 2019 to October 15, 2020, that to say 10 months. It consisted mainly in the systematic screening of the electrophoretic profile of children under 5 admitted to the said health facilities using a rapid test. Results: The analyzes showed that the hospital prevalence of major sickle cell disease was 12.7%. The mean age of children with major sickle cell anemia was 41 ± 18 months. The median age was 48 months with the extreme ages 2 and 59 months. The 48 to 59 months age group was represented with 56.1% of children with SS sickle cell disease. The prevalence of sickle cell status was significantly associated with age group (p &lt;0.0001). The sex ratio M/F was 1.1. The sickle cell status was independent of the sex of the child. Conclusion: The findings of this study show that the burden of sickle cell disease in pediatric hospitals and mainly in children under 5 years of age is underestimated in the absence of systematic screening. Faced with the delay in the implementation of universal screening in Africa, systematic hospital screening of all children and mainly those under 5 years of age using rapid tests will improve diagnosis and life expectancy of patients with major sickle cell anaemia.

PREVALENCE OF SICKLE CELL ANEMIA IN YOUTH BY COST EFFECTIVE STRATEGY ALONG WITH HPLC

This study aimed to determine the prevalence of sickle cell disease among students of Anand People’s Medicare Society (APMS) using cost-effective screening methods and confirming the results with high-performance liquid chromatography (HPLC). A total of 395 students from Anand, Gujarat, were screened using the sickling test and solubility test as primary screening methods. Haemoglobinopathies carriers were diagnosed and confirmed using HPLC at the Indian Red Cross Society, State Branch in Ahmedabad. Complete hemogram analysis was performed, and the results were tabulated and analyzed. The results indicated that HPLC exhibited 100% sensitivity, specificity, and accuracy, while the sickling test demonstrated a sensitivity of 66.66%, specificity of 97.90%, and accuracy of 97.21%. The solubility test showed a sensitivity of 53.84%, specificity of 96.85%, and accuracy of 95.44%. HPLC had a 100% positive predictive value (PPV) and negative predictive value (NPV), whereas the sickling test had a PPV of 55.55% and NPV of 99.20%. The solubility test yielded a PPV of 36.84% and NPV of 98.40%. In conclusion, the sickling test and solubility test are cost-effective and easily conducted, with the sickling test providing more reliable results with higher sensitivity and specificity compared to the solubility test. HPLC is considered the gold standard test for screening.

Exploring Patient Demographics and Presence of Retinal Vascular Disease in Paracentral Acute Middle Maculopathy

PurposeTo investigate the sociodemographic profile, the association with retinal vascular diseases (RVD) and systemic comorbidities, and visual outcomes of patients with paracentral acute middle maculopathy (PAMM) in a large, ethnically diverse single-center cohort. DesignRetrospective cohort study. MethodsElectronic health record query for all patients presenting with PAMM at Moorfields Eye Hospital, London, was completed. Detailed demographics, clinical and systemic information were collected and analyzed. ResultsA total of 78 eyes of 78 patients with confirmed PAMM were included in the study. 40 patients(51.3%) presented with no RVD, 20 patients(25.6%) with retinal vein occlusion(RVO), 16 patients(20.5%) with retinal artery occlusion(RAO), and two patients(2.6%) with concomitant RAO and RVO. Patients with PAMM+RAO were older than those with RVO(p=0.02) and more likely to have a history of major adverse cardiovascular events(MACE)(p=0.01), with a significantly worse presenting best corrected visual acuity (BCVA)(20/50) compared to patients with RVO (p=0.02) and no RVD (p<0.001). Individuals with isolated PAMM had a significantly higher prevalence of previous MACE (p=0.04) and sickle cell disease (SCD) (p=0.04) compared to those with RVO. At the last follow-up, 64 patients (85.3%) had a good BCVA (>20/32). ConclusionsThe significant association of PAMM with RVD supports the hypothesis of an ischemic etiology. Individuals with isolated PAMM had a higher prevalence of MACE and SCD. Thus, it is important to prompt immediate referral for a comprehensive systemic evaluation. Across the whole cohort, PAMM was associated with good BCVA improvement during follow-up, indicating a good visual prognosis.

Impact of Sickle Cell Awareness Day on online health information seeking in Africa using Google Trends.

The United Nations Council Assembly recognized sickle cell disease (SCD) as a global public health problem due to its increasing burden, particularly in sub-Saharan Africa. To raise awareness, a resolution was adopted, designating June 19th as SCD awareness day. However, the impact of this awareness day on online health information seeking behaviour (OHISB) in African countries is not well understood, especially in Nigeria, Ghana and Uganda where SCD prevalence is high. To assess the impact, the study used Google Trends data as a measure of OHISB for SCD. The analysis covered the 60 days before the awareness day, the awareness day itself, and the 60 days afterward. Time series analysis was conducted using joinpoint regression to identify significant changes in OHISB trends. The results indicated that the impact of the Sickle Cell Awareness Day on OHISB varied across African countries and did not consistently inspire significant changes in information seeking behaviour. This suggests the need for more targeted awareness campaigns to improve public knowledge of SCD in Africa. It also highlights the importance of revising the current awareness day or creating alternative health awareness initiatives that adopt a long-term approach and address the specific health needs of the African population. Furthermore, due to limitations in using Google Trends data in some African countries with insufficient data, future research should explore other sources of internet data or conduct surveys to gain a more comprehensive understanding of the impact of the Sickle Cell Awareness Day on OHISB in Africa.

Feasibility of Constructing an Interactive Mapping Tool to Visualize Sickle Cell Disease Geographic Distribution and Medical Care Utilization in the United States

Introduction: It is recognized that many people living with sickle cell disease (SCD) face significant structural obstacles to establishing and maintaining long-term hematology care. For example, some people with SCD care may lose access as a result of a geographic move; others may lose access by aging out of the pediatric care setting. These scenarios could be addressed by providing resources in areas with addressable populations and unmet medical need. However, deploying SCD treatment resources is frustrated by the lack of an established tool that can estimate the number of people living with SCD or gaps in services available in a given geography. We hypothesized that we could build a tool using a combination of publicly available demographic data combined with hospital claims data. Methods: Using CDC estimations for SCD affecting 1 in 365 African American and 1 in 16,300 Hispanic births, we estimated SCD prevalence based on data from the 2021 US Census, segmented by age, race, and county. We added a distinction between rural and urban counties using classification from the Consumer Financial Protection Bureau (CFPB), which designates rural counties as “a county that is neither in a metropolitan statistical area nor in a micropolitan statistical area that is adjacent to a metropolitan statistical area.”. PowerBI was used to generate a heat map to visualize the data at a state and county level, with the ability to filter by patient age and urban vs. rural designation. Finally, using hospital claims data for SCD “with crisis” (i.e., claims referencing ICD10 codes: D5700; D5701; D5702; D57211; D57212; D57219; D57811; D57812; D57819) and SCD “without crisis” (i.e., claims referencing ICD10 codes: D571; D5720; D5740; D5742; D5744; D5780), Pearson correlation was used to determine if an association existed between our estimated SCD prevalence and SCD related hospital claims for claim years 2021, 2022 and partial 2023. Results: Our model estimates a total of 127,297 people living with SCD in the United States, with 97% (123,454) being Black and 3% (3,843) being Hispanic (Table 1). 88% (111,977) were predicted to be under age 65, and 28% (35,675) were predicted to be under age 19. The majority (95%, 120,875) lived in urban counties. Most rural counties with SCD patients are located in the South and Southeast US (Figure 1). There was a strong positive correlation between our predictions of SCD prevalence at the state level and SCD-related hospital claims (coefficient of 0.903217 [95%CI: 0.944-0.836], p&amp;lt;0.001). For claim years 2021, 2022 and 2023 (partial) there were 1.6 claims per 1 SCD patient across the United States. While there were 1.6 claims per patient in urban counties, there were 0.7 claims per 1 patient in rural counties, consistent with a relative lack of access to care in rural areas compared to urban areas. Conclusions: Although not a direct measurement, and possibly overestimating the number of people &amp;gt;age65 living with SCD, our estimate suggests that there may be several thousand more people living with SCD than what is generally believed (100,000 per US CDC). Our estimates are partially validated by our finding that hospital claims data correlate strongly with our estimates of SCD prevalence at the state level. Although only a relatively small population of people living with SCD reside in rural counties, lower utilization of hospital services, as measured by hospital claims data, suggest that rural populations may have an unmet medical need that is particularly striking. Although working with claims data and disease estimates based on census data introduces significant limitations, it is feasible that this type of analysis could help to direct resources to areas with greatest unmet medical need.

Sickle Cell Health Awareness, Perspectives, and Experiences (SHAPE) Survey: Perspectives of Physicians in Gulf Cooperation Council Countries on Sickle Cell Disease

Introduction: Sickle cell disease (SCD) is a genetic disorder that adversely impacts patients' physical and emotional well-being, yet research on the impact of SCD on quality of life is limited. The prevalence of SCD across Gulf Cooperation Council (GCC) countries ranges 0.24-5.8% (Abu-Shaheen et al. Expert Rev Hematol 2022). The Sickle Cell Health Awareness, Perspectives, and Experiences (SHAPE) survey aimed to broaden understanding of the global burden of SCD. This analysis reports the experiences of physicians in GCC countries treating patients with SCD who participated in the SHAPE survey within the context of insights obtained globally. Methods: Physicians from Brazil, Canada, France, Germany, the UK, the US, and 2 countries in the GCC (Saudi Arabia and the United Arab Emirates [UAE]) completed a 12-minute online survey comprising close-ended questions about their experiences of treating patients with SCD. Physicians practicing for 3-35 years and currently caring for ≥10 patients with SCD were eligible. Results:Of 219 physicians globally who responded, 30 (13.7%; Saudi Arabia and the UAE, n=15 each) were from GCC countries. Physicians in GCC countries on average were caring for 16 patients with SCD and had 16 years of experience treating patients with SCD. The most common symptoms of SCD reported to physicians in GCC countries were bone aches (95%) in patients aged ≤11 years, fatigue/tiredness and bone aches (92% each) in patients aged 12-17 years, and bone aches (100%) in patients aged ≥18 years. Bone aches and yellow eyes/skin/nails were symptoms reported by a significantly higher proportion of patients in all age groups to physicians in GCC countries than all surveyed physicians (Figure 1). Most physicians agreed early treatment of SCD can help with managing/preventing severe symptoms (80% in GCC countries vs 87% globally) and that treating hemolytic anemia can improve most aspects of SCD including, reducing end-organ damage (87% vs 84%). A significantly greater proportion of physicians in GCC countries, compared with all surveyed physicians, reported they were confident in their knowledge of the consequences of hemolytic anemia (93% vs 50%), and they were significantly more likely to attribute the development of SCD complications such as chronic anemia, kidney damage, and blood clots to hemolytic anemia (Figure 2). A significantly greater proportion of physicians in GCC countries, compared with all surveyed physicians, agreed end-organ damage is unavoidable (87% vs 59%), and they were reluctant to discuss the potential future challenges/complications of SCD with a patient or their family (57% vs 37%). Most physicians agreed they were optimistic about future treatments for SCD (73% in GCC countries vs 81% globally). A significantly greater proportion of physicians in GCC countries reported considering the cost/benefit ratio to the patient and/or health care system before recommending a treatment compared with all surveyed physicians (87% vs 64%). Physicians in GCC countries, compared with all surveyed physicians, reported a significantly smaller proportion of patients were treated with hydroxyurea (24% vs 43%) and opioids (10% vs 29%). The top concerns physicians in GCC countries had were their patients not understanding the long-term effects/progression of SCD (47%), only seeking treatment/care when experiencing crises (47%), and lack of community support for patients (40%). Physicians reported wanting more support to educate their patients about the long-term effects of SCD (93% in GCC countries vs 83% globally). Conclusions: Physicians in GCC countries identified the symptom(s) most frequently reported by patients aged ≤11 years and ≥18 years as bone aches, and by patients aged 12-17 years as bone aches and fatigue/tiredness. Most physicians in GCC countries agreed end-organ damage is unavoidable, but over half were reluctant to discuss the potential future complications of SCD with patients and their families. Findings from the SHAPE survey underline the need for treatments that target specific SCD symptoms and delay end-organ damage, as well as the need of physicians in GCC countries for greater support when treating patients with SCD.

Insights on Sickle Cell Disease Therapies in Sierra Leone

Introduction: Ongoing sickle cell disease (SCD) gene therapy clinical trials in the United States and other high resource countries have shown promising results, and several therapies are under U.S. Food and Drug Administration review in 2023. Despite these advances, the current evidence-based practices are not accessible to much of the world's sickle cell population. As treatment advances are made for SCD, the integration of these therapies in sub-Saharan African countries-which have the highest prevalence of SCD-requires a global partnership. Sierra Leone ranks 9 th in burden in sub-Saharan Africa with annual SCD births between 4000-5000. Efforts are underway in Sierra Leone to improve awareness and healthcare infrastructure for the SCD population; however, the country still lacks a national screening program for diagnosis and faces challenges in providing comprehensive care across the lifespan. This study examines adult SCD patients' knowledge of current evidence-based care and novel gene therapies in Sierra Leone. Methods: In 2021-2022, a cohort (n=123) of adults living with SCD in Sierra Leone were surveyed as part of the INSIGHTS Study (NCT02156102). A mixed-methods recruitment strategy was used, including via public service announcements hosted on local radio stations, information disseminated via a WhatsApp group, and snowball sampling. Recruitment was conducted in two settings, one urban (Freetown) and one rural (Kono). Participants completed this cross-sectional study from September 2021-February 2022. Questions were asked regarding participants' perspectives and knowledge of hydroxyurea, the current standard of care treatment for SCD, and novel experimental gene therapy. Results: The mean age of respondents was 23.6 years (range 18-63). The majority of respondents were female (65.6%), educated at or above the senior secondary school level (78.7%), and students (70.3%). Respondents predominantly had the HbSS genotype (89.4%). Most study participants lacked awareness of hydroxyurea and gene therapy (93.5% had never heard of hydroxyurea; 95.1% had never taken hydroxyurea; 94.8% had never heard of gene therapy for SCD treatment) (Table 1). Despite this gap in knowledge, the majority (95.0%) agreed that genetic research is a necessary way to learn about treatments for SCD (Table 1). Discussion: Our results highlight disparities in current standard of care treatment and knowledge in a country with a high prevalence of SCD. While our cohort indicated a favorable attitude toward SCD research and a willingness to participate, these results highlight a significant barrier for successful implementation of current treatment and the adoption of curative genetic therapies in limited resource settings like Sierra Leone. Given the significant lack of knowledge around hydroxyurea, it is important that public health initiatives and research should be directed toward both established standard of care and creating awareness of experimental therapies.

Impact of the Social Marketing-Based Intervention on Preconception Healthy Behaviors of Women With Sickle Cell Disease.

A suggested method to improve the outcomes of pregnancy with sickle cell disease (SCD) is to engage more women at reproductive age in preconception healthy behavior (PCHB). Social marketing can be a suitable strategy to achieve this goal. We aimed to assess the impact of the social marketing-based intervention on women's engagement in PCHB. A quasi-experimental study was conducted in Bandar Abbas and Minab (the two largest cities of Hormozgan province in Iran with a high prevalence of SCD) from 2021 to 2022. A social marketing-based intervention with the main components (participation in PCHB as a "product,"social media and traditional promotional channels as a "promotion,"selecting healthcare centers as a "place" for implementing the intervention, and free access to medical experts and speciality as a "price") was designed based on formative research. The sample size was estimated at 140 participants in each intervention and control group. The study's main outcome was the level of engagement in PCHB, which was assessed according to the health beliefmodel (HBM). We compared the PCHB scores of both groups. Employing healthy behavior was more dominant in the intervention group. Awareness, perceived severity, perceived susceptibility, perceived benefits, and self-efficacy increased in both groups following intervention, while perceived barriers decreased. An analysis of covariance(ANCOVA) was performed to control and moderate the effect of scores in the pretest. As observed between the adjusted averages, awareness, perceived susceptibility, perceived severity, perceived benefits, perceived barriers, self-efficacy, and engagement in the PCHB were significantly different between the control and intervention groups after the intervention. A multivariate linear regression analysis showed that awareness, perceived susceptibility, and self-efficacy were strong predictors of PCHB. Social marketing-based intervention successfully increased PCHB among women of reproductive age with SCD.

Gene-addition/editing therapy in sickle cell disease

Gene therapy is an innovative strategy that offers potential cure for patients with sickle cell disease, and no appropriate donor for transplant consideration. While we await long term data from these clinical trials, we remain optimistic that gene therapy will become a standard of care for curative treatment in sickle cell disease. As gene therapy becomes a standard of treatment in sickle cell disease, we must also acknowledge the potential for financial burden to patients. We also must acknowledge the prevalence of sickle cell disease in low-resource settings. Hopefully, as we learn more about gene therapy, we can assess ways to overcome the financial toxicity that comes with this therapy.

Descriptive epidemiology of sickle cell disease in Tennessee: population-based estimates from 2008 to 2019

IntroductionThe Sickle Cell Data Collection Program (SCDC) is a multi-state initiative utilizing multiple data sources to estimate population prevalence of Sickle Cell Disease (SCD) with the goal of improving quality of life and health outcomes among those affected. SCDC in Tennessee operates as a multi-site, interdisciplinary team using multiple sources of data to learn more about SCD in Tennessee.MethodsThis analysis characterizes the number, demographics, and proximity to specialty care of individuals living with SCD in Tennessee who have been covered by Medicaid or identified by newborn screening. We compared demographic patterns of individuals with SCD living in rural areas with those living in urban areas, as well as those living in counties contributing more than 50 individuals to the cohort, respectively, to demographic patterns of individuals with SCD in the rest of the state, using Chi-Square or Fisher’s exact tests.ResultsFindings show that overall, 66.1% of all SCD patients identified through newborn screening were residents of Davidson and Shelby counties at the time of birth, and 81.8% of those identified through Medicaid claims lived in Davidson, Hamilton, Knox, Madison, Montgomery, Rutherford, or Shelby County. In total, 8.6% of the cohort lived in rural settings and 91.4% in urban settings. Of the 95 counties in Tennessee, 75 (78.9%) had at least 1 to 40 residents with SCD, yet of these 75 counties, less than half had a hematology/oncology trained provider practicing within them.DiscussionThis analysis brings us closer to understanding how many people with SCD live in rural areas of Tennessee and the challenges they face in seeking the care needed to adequately manage their disease. Acute healthcare utilization remains highest in the young adulthood years. This analysis provides insight into how healthcare utilization patterns among individuals with SCD vary by age group and over time.

Estimating Sickle Cell Disease Prevalence By State: A Model Using US-Born and Foreign-Born State-Specific Population Data

Introduction: Epidemiological data on sickle cell disease (SCD) in the United States is incomplete, particularly at the state level. Current national prevalence estimates do not include SCD cases among people who migrate to the US from high prevalence areas and may result in an underestimation of the size of the prevalent population. To account for this gap, we constructed an epidemiological model that extrapolates SCD prevalent cases based on both US- and foreign-born populations in each state for 2021. Methods: The total US SCD prevalent cases were estimated by the sum of US- and foreign-born SCD cases for each state. The US-born SCD cases in each state were calculated by applying the prevalence rates derived from new-born-screening studies to the US-born population. The foreign-born SCD cases were calculated by applying the average SCD prevalence rate from the literature for the Caribbean, Western Africa, and Middle and Southern Africa to the corresponding foreign-born populations of each state. These regions were selected due to their high endemic rates of SCD and availability of data required for the extrapolation. Other countries with high prevalence of SCD, such as other African regions, Middle Eastern countries, India, and Brazil, were not included in the analysis due to data limitations. Considering that people with SCD may have a lower propensity to migrate than the general population from these regions, we conservatively assumed that 25% of the total expected population of foreign-born SCD patients in each state would migrate to the US. The migration likelihood adjustment of 25% was based on benchmarking against state-specific SCD prevalence data published by the CDC and other modeling studies. A scenario with no migration adjustment was also explored. Results: The model estimates that the total number of SCD cases in 50 states and Washington D.C. in the US was 120,156 cases in 2020, with 87% of the cases from the US-born population and 13% of the cases from immigrants from the Caribbean, Western Africa, and Middle and Southern Africa. Florida (13,886 cases), New York (11,715 cases), Texas (9,416 cases), Georgia (7,088 cases), and Maryland (5,812 cases) have the highest SCD burden. In nine states, prevalent SCD cases increased by more than 25% when the non-US-born SCD population is included. The proportion of total SCD cases attributable to immigrants varies widely by state (0-73%). When not adjusting for migration likelihood, the estimate of SCD prevalent cases in the US was 167,484 cases. Conclusion: The prevalence of SCD and other hemoglobinopathies is growing in the US due to changing migration patterns. The total number of SCD prevalent cases estimated by the model is higher than the frequently cited national estimate of ~100,000 cases. We account for the difference by considering SCD cases from the immigrant population, which was lacking in previous national-level epidemiology estimates that use new-born screening methods. Implications of undercounting SCD cases is significant when considering healthcare resource planning. While the CDC's Sickle Cell Data Collection (SCDC) program is undertaking a significant effort to better understand SCD prevalence at the state level, the scope of the program does not include all US states. More research is needed to obtain accurate and up-to-date SCD epidemiology in the US. Limitations: This extrapolation is limited by the accuracy of the US-born and foreign-born populations census reporting. US-born SCD prevalent cases may be underestimated as the new-born screening-based SCD prevalence used in the analysis may be outdated. The extrapolation only included the foreign-born population from three regions, which may underestimate SCD prevalent cases. This model does not account for inter-state migration patterns.