Screening For Sickle Cell Disease Research Articles

A Groundbreaking Prevalence Survey Conducted in Mauritania for Enhanced Sickle Cell Control

Abstract Issue/Problem Sickle cell disease is a major concern in sub-Saharan Africa, with a prevalence of 0.5 to 2% among children and a mortality rate exceeding 50% in untreated cases. However, the lack of reliable data hampers effective public health policies and resource allocation. To address this, Mauritania’s Ministry of Health, with technical support from NGO Santé Sud, conducted its first prevalence survey in 2023-24. The findings will support advocacy for a national strategy on the disease and offer valuable insights for neighboring countries with similar challenges. Description of the problem The prevalence survey comprised 3 field missions over 7 weeks, conducted across 24 primary healthcare facilities during immunization days, in Nouakchott, Dakhlet-Nouadibou, Trarza, Ghorgol, Brakna, Guidimakha and Assaba regions: 1,642 infants (0-9 months) underwent screening for sickle cell disease, with parents’ consent, and 30 paramedics and laboratory technicians were trained to administer point-of-care tests. Results The survey found that 9.7% of tested children were carriers of hemoglobinopathies, with 0.6% diagnosed with sickle cell disease. Lab technicians and nurses have improved knowledge about the disease and are better equipped for point-of-care testing. This initiative is expected to enhance sickle cell disease control by providing crucial data for advocacy and may lead to a nationwide newborn screening program, in line with WHO recommendations. Lessons This initiative highlighted the efficiency of screening infants for sickle cell disease, emphasizing the need for effective organization involving stakeholders from central to local levels. Screening during immunization days proved highly efficient in testing numerous children. Success depends on adequate human resources, technical skills, and dedicated health personnel. Additionally, having a team member to inform and counsel families, especially when test results are positive, proved crucial. Key messages • A prevalence survey on sickle cell disease to generate robust data for advocacy efforts in Mauritania. • Conducting a prevalence survey on sickle cell disease in Mauritania for a better control of the disease.

Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events.

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. Few studies have assessed the clinical impact of introducing NBS programs on SCD patients. 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 SG had a significantly lower median age at diagnosis (0.1 y vs. 1.68 y, p < 0.0001), and initiated penicillin prophylaxis (0.12 y vs. 1.86 y, p < 0.0001) and hydroxyurea treatment earlier (1.42 y vs. 4.5 y, p < 0.0001). The SG experienced fewer median SCD-related clinical events (vaso-occlusive crisis, acute chest syndrome, infections of probable bacterial origin, acute anemia requiring transfusion, acute splenic sequestration, and pathological transcranial Doppler echography) per year of follow-up (0.19 vs. 0.77, p < 0.0001), a reduced number of annual emergency department visits (0.37 vs. 0.76, p < 0.0001), and fewer hospitalizations (0.33 vs. 0.72, p < 0.0001). SCD screening in Catalonia's NBS program has effectively reduced morbidity and improved affected children's quality of life.

Sickle cell disease awareness and perception among Christian religious leaders in Accra Metropolis: a qualitative study.

Sickle Cell Disease (SCD) is a severe hemoglobin gene mutation disorder inherited from both parents. 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S gene. Christian religious leaders may play a role in the prevention of SCD through the promotion of genetic counseling, genotype screening for premarital couples, and offering counseling to couples on prenatal screening and diagnosis for SCD. However, little is known about the awareness and perception of SCD among Christian religious leaders in Ghana, and this study aims to explore these. This study adopted a qualitative descriptive design to explore the awareness and perception of SCD among Christian religious leaders in the capital city of Ghana. A purposive sampling technique selected 16 participants from churches under the main Christian groups. The participants were chosen based on their roles and responsibilities within their respective churches. Data was collected using a semi-structured interview guide, which included open-ended questions to encourage participants to share their thoughts and experiences. The interviews were conducted in a private setting to ensure confidentiality. The data was then analyzed using a thematic analysis approach, which involved identifying recurring themes and patterns in the participants' responses. The study's findings are crucial. They reveal a high awareness of SCD among Christian religious leaders, but also some misconceptions. Most of the religious leaders knew SCD was a genetic disease, although a few associated SCD with superstitious beliefs, poor dietary intake, and lifestyle. Some also stated that SCD was a disease of the blood group instead of the defective haemoglobin gene. They perceived SCD to be burdensome, disruptive, and draining, and they associated the disease with burnout in Persons Living with SCD (PLWSCD) and their families. The religious leaders had a good social network with PLWSCD, including family, friends, colleagues, and congregants. These findings underscore the need for intense education about SCD, especially among Christian religious leaders. It is crucial to engage all stakeholders to intensify public awareness and education about SCD while improving the management and social support systems available to PLWSCD and families. This includes the religious institution's leadership, PLWSCD and families, the Ministry of Health, Ghana Health Service, and the Ghana Education Service. As active stakeholders, religious leaders can play a vital role in supporting PLWSCD if they are equipped with the necessary knowledge about the condition. .

A-354 Evaluating Emergent POC Technology for Sickle Cell Testing in Resource Limited Settings

Abstract Background Sickle cell disease (SCD) represents a collection of inherited hematological disorders characterized by abnormal sickle-shaped erythrocytes resulting in an increased risk of morbidity and mortality. SCD represents a significant global health burden, affecting more than 300,000 newborns per year. Most of these births occur in resource limited areas, including sub-Saharan Africa, where the mortality rate before the age of five is estimated to be as high as 50-80% and the existing infrastructure and resources cannot support most current and robust methods that offer hemoglobin variant detection and quantification for the diagnosis and monitoring of SCD. While newborn screening programs (NBS) to identify individuals affected with SCD have demonstrated efficacy in reducing morbidity and early mortality, NBS programs are limited outside of the US and Europe and face many practical challenges for universal implementation in a resource limited setting. The need for inexpensive and reliable hemoglobin variant detection and quantification at the Point of Care is essential to the diagnosis and management of SCD in resource limited settings with a high prevalence of SCD, and the expansion of NBS programs. This study aims to evaluate an inexpensive testing strategy using two methodologies for POC screening and confirmation of SCD that could be supported in a low resource setting. Methods The two-step testing strategy for evaluation of POC testing for hemoglobin variant detection and quantification included testing residual specimens from normal and known sickle cell patients by first screening with the HemoTypeSC, a qualitative lateral flow immunoassay (LFIA) that has improved sensitivity and specificity from other available LFIA methodologies given the use of monoclonal antibodies for the detection of hemoglobin variants. Confirmatory testing and quantification of hemoglobin variants was accomplished with the use of the Gazelle POC test a miniaturized chip-based cellulose acetate electrophoresis device capable of identification and quantification of normal and variant hemoglobin. Statistical evaluation of device performance and clinical agreement between the device and known disease status was achieved in EP evaluator. Results The two-tier testing strategy demonstrated effective and inexpensive mechanism for SCD screening and confirmation. Overall, the HemoTypeSC and Gazelle demonstrated 100% qualitative agreement between methods, with the total cost of the two-tiered testing strategy estimated at under $6 per sample. Conclusions In conclusion, the two-tiered approach using the HemoTypeSC and Gazelle yielded a practical and cost-effective strategy for screening and confirmation of hemoglobin variants for the detection and monitoring of SCD. Both the strip and chip-based methodologies provide rapid results, are accessible at the point-of-care, and require minimal sample volume, a feature ideal for use in a pediatric population in low resource settings. Overall, these methods show promise for the use and expansion of NBS programs to improve public health initiatives for the diagnosis of SCD.

A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria.

Newborn screening for sickle cell disease (SCD) is sparse in sub-Saharan Africa. The leadership of the Aminu Kano Teaching Hospital (AKTH) in Kano, Nigeria, with the support of local religious authorities, established a groundbreaking SCD newborn screening program that has become the standard of care for pregnant women and their newborns. Our program includes (1) prenatal genetic counseling for all pregnant women in the antenatal clinic, (2) newborn screening, (3) postnatal genetic counseling for parents of newborns diagnosed with SCD and SCT, and (4) referral of newborns with SCD for follow-up in the SCD Comprehensive Care Clinic by 3 months of age. From September 2020 to December 2023, the team screened 7530 infants for SCD at the AKTH, identifying 126 (1.7%) infants with SCD and 1546 (20.5%) with SCT. Of these, 93 (73.8%) newborns with SCD received individualized genetic counseling, and 43 (46%) were referred to the SCD Comprehensive Care Clinic before 3 months. Group genetic counseling was provided to the parents of 778 (50.3%) of newborns identified with SCT. The SCD newborn screening at the AKTH is now standard care, indicating the viability of sustaining an SCD newborn screening program that provides pre- and postnatal genetic counseling and comprehensive SCD care within a low-income setting.

Fostering a healthier generation of children with sickle cell disease through advancements in care.

Sickle cell disease (SCD) is an inherited disorder of hemoglobin that affects tens of millions of individuals worldwide. Without preventive and disease-modifying therapy, SCD results in many acute and chronic complications impacting both quality and length of life. We are currently in a new generation of SCD care in high resource settings due to recent advancements in care. Universal newborn screening (NBS) for SCD with associated parental education and preventive care significantly improved mortality rates. Beginning in the 1990s, hydroxyurea emerged as a promising pharmacologic treatment for SCD due to its ability to increase the amount of fetal hemoglobin. It is now the mainstay of treatment, with strong recommendations to begin as early as the first year of life with the goal of reducing most short- and long-term complications and allowing for a normalized quality of life. More recently, gene therapy has come to the forefront in SCD and brings the hope of a cure for many patients. In 2023, the FDA approved two cell-based gene therapies for patients with SCD. The future is bright for patients with SCD, and the current generation of affectedchildren will expectantly be able to grow up free of suffering and severe, frequent pain.

Sickle cell anaemia control mission: Implementation of a comprehensive care model in Anuppur, Madhya Pradesh.

Background & objectives Sickle cell disease (SCD) is a common genetic disorder, predominantly found in the tribal population of India. The examples of models providing comprehensive care and management to individuals with SCD in public health facilities are sparse. The Sickle Cell Anaemia Control Mission is one such model implemented by Jan Swasthya Sahyog, a non-profit organization in collaboration with the National Health Mission in the Anuppur district of Madhya Pradesh. This article aimed to identify the key learnings from this programme that can guide the public health system strengthening with respect to SCD. Methods The Sickle Cell Anemia Control Mission Programme included door to door screening for anaemia, SCD and blood group. SCD cases were included in the programme and other individuals with Anemia were referred for further care. Care for individuals with SCD included counselling, provision of hydroxyurea, regular follow up of clinical parameters and management of complications. Care for individuals with SCD was provided through monthly patient support group (PSG) meetings and regular outpatient /in-patient care at public health facilities. Quantitative data on programme design, screening and patient management collected during programme implementation were used for analysis. Results A total of 39421 persons were screened in 18 months (August 2018-March 2020). Of these 81.9 per cent persons were anaemic, 16.9 per cent had sickle cell trait and 779 (1.98%) had SCD. Eighty-six already diagnosed individuals joined the programme for care. People from all caste categories were diagnosed with SCD. Out of 865 individuals with SCD, 157 underwent regular 9-11 months follow up and showed improvement in clinical symptoms and drug compliance. Interpretation & conclusions Central India has a significant burden of anaemia and SCD. This study found that SCD is present in non-tribals as well. PSGs are an efficient way to deliver non-emergency care for chronic diseases such as SCD.

Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience.

Neonatal screening for sickle cell disease (SCD) in France, targeted since 1995, indirectly detects newborns with sickle cell trait (SCT). Information about carrier status must be communicated to families in accordance with the 2006 National Consultative Ethics Committee recommendations; however, no national protocol for this exists. In the departments of Nord and Pas-de-Calais, the Regional Neonatal Screening Center transmits this information through a general practitioner (GP). This study aimed to assess the success rate of local practices in transmitting SCT information to parents. The secondary objectives included explaining transmission failures, evaluating post-information couple screening rates, and conducting a nationwide evaluation of SCT information dissemination. In this retrospective, multicenter study, family doctors were surveyed regarding newborns screened for SCT between January 1 and December 31, 2020, in the Nord and Pas-de-Calais departments. Among the 260 screened newborns, 197 were eligible for analysis. Results showed that 31.2% of newborns with SCT had their GP definitively sharing information with their parents. Based on this information, subsequent parental screening accounted for 13.6% of cases. The reasons cited by the GP for failing to convey information included elusive families (52.5%), unfamiliarity or refusal of the role (35%), limited SCD knowledge (25%), and ethical considerations (12.5%). This study highlights the difficulty and heterogeneity in transmitting carrier status information to parents of newborns with SCT. Our findings could serve as a foundation for the development of new methods for information transmission, given the generalization of neonatal screening for SCD by the French National Authority for Health.

Paediatric sickle cell disease presenting with hepatobiliary symptoms—a case presentation and brief literature review

BackgroundSickle hepatopathy is the hepatobiliary dysfunction associated with sickle cell disease. It has a varied spectrum ranging from asymptomatic transaminasemia to gallstones or fulminant liver failure. Hepatobiliary manifestations may be the initial presentation in children with undiagnosed sickle cell disease as seen in our three index cases. This may mimic a primary liver disease, delaying definite diagnosis and management.Case presentationWe describe three cases. The first case was a 9-year-old girl child with cholecystitis with choledocholithiasis, the second case was a 15-year-old boy with acute hepatitis of unidentified aetiology, and the third case was a 3-month-old infant with neonatal cholestasis in absence of common structural or metabolic cause. All three cases had underlying haemolytic anaemia with splenomegaly and belonged to the sickle belt of the region. The final diagnosis in all three index cases was sickle cell disease with hepatopathy.ConclusionThe clinical syndrome of hepatitis or cholestasis with or without cholangitis in the background of splenomegaly and haemolytic anaemia should prompt screening for sickle cell disease.

Screening for sickle cell disease: focus on newborn investigations.

Drepanocytosis is a genetic disease relevant for its epidemiological, clinical and socio-economic aspects. In our country the prevalence is highly uneven with peaks in former malaria areas, but migration flows in recent years have led to significant changes. In this document we review the screening programs currently existing in Italy with particular emphasis on newborn screening, which in other countries around the world, including within Europe, is atmost universal and mandatory. The essential laboratory issues are reviewed, from sampling aspects (cord blood or peripheral), to the analytical (analytical methods dedicated to neonatal screening and adult carrier detection) and post analytical (reporting, informative) ones. An economic analysis based on data collected in the province of Modena isalso proposed, clearly showing that neonatal screening is also beneficial from an economic point of view.

Cost-effectiveness of newborn screening for sickle cell disease: a systematic review protocol.

The purpose of this systematic review is to assess the cost-effectiveness of targeted/selective newborn screening compared with universal screening for sickle cell disease across various countries and settings. The incidence of sickle cell disease is a widespread and potentially fatal hematologic disorder that affects thousands of newborns worldwide. The cost of newborn screening creates a burden on households and the economy. Studies will be eligible for inclusion in the review if they focus on the cost-effectiveness of newborn screening for sickle cell disease, comparing targeted/selective screening with universal screening. A preliminary search of MEDLINE (PubMed) was undertaken using MeSH terms, such as sickle cell disease, newborn , and economic evaluations . Two reviewers will screen the titles, abstracts, and full text independently against the inclusion criteria. Disagreements will be resolved by discussion or with a third reviewer. To assess methodological quality, the JBI checklist for economic evaluation will be used. Data will be extracted by 2 reviewers using a modified JBI data extraction form. The JBI dominance ranking matrix for economic evaluations will be used to summarize and compare the results. Cost-effectiveness will be measured on the basis of cost per test/case detected, quality-adjusted life years gained, or disability-adjusted life years averted. The Grading of Recommendations, Assessment, Development and Evaluation (GRADE) assessment will be conducted to evaluate the certainty of economic evidence, such as use of resources and expenditures, and to incorporate the results into the decision-making process. PROSPERO CRD42017057963.

Barriers and facilitators to community acceptability of integrating point-of-care testing to screen for sickle cell disease in children in primary healthcare settings in rural Upper East Region of Northern Ghana.

Sickle cell disease (SCD) remains a public health problem especially in sub-Saharan Africa including Ghana. While pilot initiatives in Africa have demonstrated that neonatal screening coupled with early intervention reduces SCD-related morbidity and mortality, only 50-70% of screen-positive babies have been successfully retrieved to benefit from these interventions. Point-of-care testing (POCT) with high specificity and sensitivity for SCD screening can be integrated into existing immunization programs in Africa to improve retrieval rates. This study explored community acceptability of integrating POCT to screen for SCD in children under 5 years of age in primary healthcare facilities in Northern Ghana. This was an exploratory study using qualitative research approach where 10 focus group discussions and 20 in-depth interviews were conducted with community members and health workers between April and June 2022. The recorded interviews were transcribed verbatim after repeatedly listening to the recordings. Data was coded into themes using QSR Nvivo 12 software before thematic analysis. Most participants (70.9%) described SCD as serious and potentially life-threatening condition affecting children in the area. Of 148 community members and health workers, 141 (95.2%) said the screening exercise could facilitate diagnosis of SCD in children for early management. However, discrimination, fear of being tested positive, stigmatization, negative health worker attitude linked with issues of maintaining confidentiality were reported by participants as key factors that could affect uptake of the SCD screening exercise. Most participants suggested that intensive health education (78.3%), positive attitude of health workers (69.5%), and screening health workers not being biased (58.8%) could promote community acceptability. A large majority of participants viewed screening of SCD in children as very important. However, opinions expressed by most participants suggest that health education and professionalism of health workers in keeping patients' information confidential could improve the uptake of the exercise.

"Everyone screens to some extent": Barriers and facilitators of developmental screening among children with sickle cell disease: A mixed methods study.

Developmental delays are common among children with sickle cell disease (SCD). Existing guidelines support consistent screening to increase the identification of deficits and support referral to rehabilitative interventions, yet adherence remains variable. This study sought to assess current practices and identify barriers and facilitators to improve developmental screening for children 0-3years with SCD. A mixed methods approach, guided by the Exploration and Preparation stages of the Exploration, Preparation, Implementation, and Sustainment (EPIS) framework, assessed developmental screening practices among primary care providers and hematologists. Phase 1 included the SCD Developmental Surveillance and Screening Guideline and Practice Survey. Phase 2 included the SCD Developmental Screening Organizational Survey alongside semi-structured interviews. Descriptive and qualitative methods summarized the findings. Thirty-three providers from general pediatrics and hematology completed phase 1. Use of standardized developmental screening measures was variable, with the most frequently used being the Modified Checklist for Autism in Toddlers (77%) and the Ages and Stages Questionnaire (55%). Fifteen providers participated in phase 2, and reported they were most likely to engage in changes to improve their practice (mean=4.4/5) and least likely to support spiritual health and well-being (mean=3.5/5). Three themes emerged:(i) developmental screening is not standardized or specific to SCD, (ii) children with SCD benefit from a multidisciplinary team, and (iii) healthcare system limitations are a barrier. Developmental screening is inconsistent and insufficient for young children with SCD. Providers are interested in supporting children with SCD, but report a lack of standardized measures and consistent guidance as barriers.

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.

Health education to promote knowledge about sickle cell disease and newborn screening in pregnant women: a community-based pilot study using the healthy beginning initiative

BackgroundPregnancy presents a critical period for any maternal and child health intervention that may impact the health of the newborn. With low antenatal care attendance by pregnant women in health facilities in Nigeria, community-based programs could enable increased reach for health education about sickle cell disease (SCD) and newborn screening (NBS) among pregnant women. This pilot study aimed to assess the effect of education on the knowledge about SCD and NBS among pregnant women using the Healthy Beginning Initiative, a community-based framework.MethodsA pre-post study design was used to evaluate knowledge of SCD and NBS in a convenience sample of 89 consenting pregnant women from three communities. Participants were given surveys prior to and following completion of a health education session. McNemar’s test was used to compare the proportion of participants with correct responses. The level of significance was taken as p < 0.05.ResultsCompared to pre-test values, post-test values showed that participants understood that SCD is hereditary (93.3% vs. 69.7%), both parents must have at least one gene for someone to have SCD (98.9% vs. 77.5) and blood test is the right way to know if one has SCD (98.8% vs. 78.7%). Also, a large proportion of participants (post-test ~ 89.9%; compared to pre-test ~ 23.6%) understood that the chance of conceiving a child with SCD was 25% for a couple with the sickle cell trait (SCT). Knowledge of the possibility of diagnosing SCD shortly after birth was highly increased in the post test phase of the study when compared to the pre-test phase (93.3% vs. 43.9%, respectively). Concerning the overall knowledge scores, those with high level of knowledge significantly increase from 12.6% pretest to 87.4% posttest (p = 0.015).ConclusionThe health education intervention was associated with significant improvement on almost all measures of SCD knowledge. Focused health education for pregnant women using community structures can improve knowledge of SCD and NBS.

IJCM_364A: A Cross Sectional Study on Sickle Cell Disease awareness among adolescents in a tribal district of Maharashtra, India

Background: Sickle Cell Disease (SCD) poses a substantial health concern in India, especially among tribal populations. The Ministry of Health and Family Welfare’s Tribal Health Expert Committee has identified SCD as one of the top 10 challenges in tribal health. This study aims to assess the knowledge gap about SCD among school-going adolescents in a tribal district of Maharashtra. Objective: 1. To assess awareness of sickle cell anaemia among adolescents aged 12-18 years in a tribal district of Maharashtra 2. To provide recommendations based on study findings. Methodology: A cross-sectional study was conducted in a tribal district of Maharashtra, involving 394 school-going adolescents. Participant’s knowledge of sickle cell anaemia was assessed through face-to-face interview after obtaining necessary permissions from concerned authorities and assent from the participants. Data collection included information on general awareness, understanding of disease transmission, familiarity with sickle cell crisis, and preventive measures, with strict maintenance of data confidentiality. Results: Out of the 394 participants surveyed, 212 (53.8%) were females, and 182 (46.2%) were males. Only 19 students (5%) demonstrated awareness of SCD, with 16 (7.5%) females and 3 (1.6%) males out of the total. Surprisingly, none (0%) had knowledge of its transmission or had undergone screening for SCD. Within the aware subset, only 3 (15%) recognized Sickle Cell Crises, and a lone respondent (5%) was aware of its preventive measures. Conclusion: The study highlights a notable lack of sickle cell disease awareness among school-going adolescents in Maharashtra’s tribal district, posing a potential public health challenge. Urgent, tailored interventions are essential to sensitize the future generation, aligning with SDG 3, which aims for improved health and well -being through enhanced understanding and awareness.

Sickle cell disease in French Guiana: assessing 30 years of neonatal screening (1992-2021)

Sickle cell disease is one of the most common genetic diseases in France. In French Guiana, neonatal screening was introduced in 1992, at the same time as other screening programs for childhood diseases. The aim of this study is to describe the organization of newborn screening for sickle cell disease in French Guiana. We used several data sources: data collected from hospital records since 2005, activity reports from the national neonatal screening program and data from screening campaigns organized by the Drepaguyane association between 2010 and 2021 on 1,300 subjects. Blood samples from newborns are collected by capillary or venous sampling and absorbed on blotting paper (Guthrie) at the same time as those for other neonatal screenings. The dried papers are sent to the inter-regional laboratory in Lille, for further processing. In Saint-Laurent-du-Maroni, in order to reduce the proportion of people lost to follow-up, a double screening is carried out and the results are returned before discharge from the maternity hospital. All data were entered into an anonymous Excel file. The data were analyzed using STATA software. Among the 175,593 screened neonates between 1992 and 2021, screening detected 823 infants with sickle cell disease and 17,950 heterozygotes. Sickle cell genotypes include 493 SS (60%), 302 SC (37%) and 28 S-Beta-thalassemia (3%). The incidence of sickle cell disease was 1/213, 95% CI [1/236-1/204], and that of heterozygotes 1/10, IC 95% [1/12-1/8]. The majority of these children (52%) were from the Maroni region. The delay between screening and test results was 7 days. Only pathological results (homozygous, heterozygous) were communicated to parents and/or the attending physician by post. These data confirm the upward trend in the number of children screened for sickle cell disease in French Guiana. Data from screening campaigns organized by the Drepaguyane association have enabled to describe the distribution of the various abnormal hemoglobin fractions, and to confirm that HbS is more frequent in Western French Guiana. In Cayenne, in 2021, the active file comprised 699 patients, including 266 children under 18 years old. This study provides valuable data on 30 years of neonatal screening for sickle cell disease in French Guiana, and on the evolution of sickle cell disease patients. It confirms that French Guiana is the French territory with the highest incidence of sickle cell disease. This incidence continues to rise over time. The study reveals the improvement in the organization of sickle cell disease management in French Guiana between 1992, when screening was introduced, and the present day. It highlights the role of patient associations in the fight against this disease, by organizing awareness and screening campaigns. These data will be used to guide public health policies in the pursuit of improved care and primary prevention.

Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study.

Newborn screening (NBS) for sickle cell disease (SCD) has significantly improved childhood survival but there are still gaps resulting in delayed care for affected infants. As a state-run program, there are no national quality assurance programs to ensure each state achieves consistent, reliable outcomes. We performed this qualitative study of NBS follow-up practices to better evaluate and understand the multi-level, state-specific processes of how each state's public health department delivers the NBS results to families, how/if they ensure affected infants are seen quickly by sickle cell specialists, and to determine the close-out processes used in each state. This project used semi-structured interviews conducted with 29 participants across eight states to explore these NBS follow-up processes in each state. Participants included SCD providers, NBS coordinators, or personnel associated with state health departments and community-based SCD organizations (CBO). Our results show significant state-dependent variations in the NBS processes of information delivery and patient management. Specifically, programs differed in how they communicated results to affected families and which other organizations were informed of the diagnosis. There was also state-based (and intrastate) variation in who should assume responsibility for ensuring that infants receive confirmatory testing and are promptly started on penicillin prophylaxis. Case closure was also highly variable and poorly validated. Our results also yielded identifiable challenges and facilitators to NBS which were highly variable by state but potentially addressable in the future. This information suggests opportunities for systematic improvement in NBS follow-up processes.

Genetic Information to Share with Parents when Newborn Screening Reveals the Presence of Sickle Cell Trait.

The primary purpose of newborn screening for sickle cell disease is to diagnose the disease before the appearance of symptoms and to initiate early treatment. To answer the question "What genetic information needs to be communicated to parents when newborn screening reveals the presence of a sickle cell trait," we conducted a survey using a self-administered online questionnaire. We received responses from 122 healthcare workers and members of sickle cell disease associations, in France and French overseas departments. Our results showed similar positions on this issue. The information conveyed is not consistent and is the result of grassroots initiatives. The negative consequences generated by this information could be reduced when this information is delivered by a multidisciplinary team, within the framework of a dedicated consultation. This information on sickle cell trait status should be given in at least three key periods: the neonatal period, early adolescence, and later adolescence, when reproductive implications become important. Neonatal screening programs should develop systems that allow referring physicians to easily access the results of neonatal screening electronically. Harmonization of practices should allow a better analysis of the consequences of this counselling on family projects.

Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania

Sickle cell disease (SCD) is a single gene blood disorder characterised by frequent episodes of pain, chronic anaemic, acute chest syndrome, severe disease complications and lifelong debilitating multi-system organ damage. Genetic testing and screening programs for SCD and the sickle cell trait (SCT) are valuable for early diagnosis and management of children living with SCD, and in the identification of carriers of SCT. People with SCT are for the most part asymptomatic and mainly identified as through genetic testing or when they have a child with SCD. This qualitative study explored perceptions towards genetic testing for SCD and SCT in Cameroon, Ghana, and Tanzania. The results show a general preference for newborn screening for SCD over prenatal and premarital/preconception testing, primarily due to its simpler decision-making process and lower risk for stigmatization. Premarital testing for SCT was perceived to be of low public health value, as couples are unlikely to alter their marriage plans despite being aware of their risk of having a child with SCD. Adolescents were identified as a more suitable population for SCT testing. In the case of prenatal testing, major concerns were centred on cultural, religious, and personal values on pregnancy termination. The study revealed a gender dimension to SCD/SCT testing. Participants mentionned that women bear a heightened burden of decision making in SCD/SCT testing, face a higher risk of rejection by potential in-laws/partners if the carriers of SCT, as well as the possibility of divorce if they have a child with SCD. The study highlights the complex cultural, ethical, religious and social dynamics surrounding genetic testing for SCD and emphasises the need for public education on SCD and the necessity of incorporating genetic and psychosocial counselling into SCD/SCT testing programs.