Diagnosis Of Sickle Cell Disease Research Articles

Patient-reported pregnancy loss and maternal complications: Insights from the sickle cell disease implementation consortium.

Sickle cell disease (SCD) is associated with complications during pregnancy and can negatively influence maternal outcomes. Our study aimed to determine the prevalence and predictors of maternal morbidity among participants enrolled in an eight-site SCD Implementation Consortium (SCDIC) registry. We conducted a cross-sectional analysis of female registry participants, aged 15-45 years, with a confirmed diagnosis of SCD. Participants completed a survey of self-reported pregnancies and outcomes. Seven hundred and thirty-eight individuals had at least one pregnancy event, with 1076 live births. Twenty percent reported a pregnancy loss or fetal demise. Of the 1076 live births, 75% involved at least one complication. The most prevalent complications were pain crises (61.1%) and pregnancy requiring blood transfusion(s) (33.0%). Multiparous individuals with a prior occurrence of a complication in a previous pregnancy had higher odds of recurrence of the same complication in subsequent pregnancies (i.e., previous acute crisis was associated with subsequent acute pain events odds ratio [OR]: 3.13; 95% confidence interval [CI]: 2.06-4.76) and prior transfusion requiring another transfusion (OR: 3.22; 95% CI: 2.01-5.16). Individuals reported a high prevalence of pregnancy loss and maternal complications. Our findings underscore the importance of preconception counseling and early initiation of perinatal care in SCD.

Clinical burden and healthcare resource utilization associated with managing sickle cell disease with recurrent vaso-occlusive crises in France

Objective This retrospective, real-world claims database analysis described the clinical burden and healthcare resource utilization (HCRU) among patients with sickle cell disease (SCD) with recurrent vaso-occlusive crises (VOCs) in France. Methods The French National Health Data System database (système national des données de santé) was used to identify eligible patients from January 1, 2012, to March 1, 2019. Inclusion criteria were a SCD diagnosis, ≥2 VOCs/year for ≥2 consecutive years following the diagnosis, and ≥1 year of follow-up data to March 1, 2020. Patients with hereditary persistence of fetal hemoglobin or hematopoietic stem cell transplant in their medical records were excluded. Clinical complications, mortality, treatment use, and HCRU were evaluated during follow-up. Results Overall, 4602 patients with SCD with recurrent VOCs were eligible; their mean (standard deviation [SD]) age was 19.8 (13.5) years, and 51.8% were female. Patients experienced a mean (SD) of 3.82 (3.57) VOCs per patient per year (PPPY). Prevalent complications were anemia or leukocytosis (44.1%), infections (42.0%), and organ failure (38.2%). In total, 101 (2.2%) patients died during follow-up (mean age of death [SD]: 39.3 [17.5] years; mortality rate: 0.64 deaths per 100 person-years). Most patients received opioids (89.1%) and hydroxycarbamide (72.8%). Patients had a mean of 5.7 inpatient hospitalizations, 6.0 emergency room visits, 6.6 outpatient visits, and 13.4 outpatient prescriptions PPPY. Conclusions Patients with SCD with recurrent VOCs in France have substantial clinical complications, mortality, and HCRU despite currently available treatment options. Innovative treatments that reduce frequency of or eliminate VOCs are needed to alleviate the burden associated with SCD.

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.

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. .

Awareness of Sickle Cell Disease in the Eastern Region of Saudi Arabia: Study of Medical Specialty Students

Introduction: Sickle cell disease (SCD) is a major health challenge in Saudi Arabia due to its high prevalence, and healthcare providers play a key role in reducing the prevalence of this genetic disorder.Objective: To assess awareness and knowledge of SCD among medical specialty students in various medical programs and to explore its differences based on the sociodemographics of participants.Methods: The study included a cross-sectional survey of 302 medical students across different years of study at Medical College in the eastern region of Saudi Arabia. Participants completed a self-administered questionnaire developed based on a literature review. Descriptive analysis using SPSS V 26 and inferential analyses were utilized.Results: While 61.6% of participants felt they had sufficient SCD information, only 45% had previously received SCD education or awareness training. Only 6.6% reported experiencing college problems due to SCD. Most participants demonstrated good knowledge of SCD's cause, transmission, prevention, and diagnosis. However, fewer were aware of risk factors for children of carriers (6.6%), the disease's prevalence in Saudi Arabia (45%), or the possibility of curing SCD through stem cell transplant (49.7%). The study found married respondents were more aware of SCD than single or divorced students. Conclusion: While medical students grasp SCD basics, more targeted educational initiatives are needed, especially around risk factors and prevalence, to enhance awareness and control the high SCD rate in Saudi Arabia, particularly in the eastern region where it is most common. Expanding SCD education programs in medical institutions could improve future providers' knowledge

Perceptions of Care and Perceived Discrimination: A Qualitative Assessment of Adults Living with Sickle Cell Disease.

Sickle cell disease (SCD) is a major public health concern with significant associated economic costs. Although the disease affects all ethnic groups, about 90% of individuals living with sickle cell disease in the USA are Black/African American. The purpose of this study was to assess the health care discrimination experiences of adults living with SCD and the quality of the relationship with their health care providers. We conducted six focus groups from October 2018 to March 2019 with individuals receiving care at a specialized adult sickle cell program outpatient clinic at a private, nonprofit tertiary medical center and teaching hospital in the northeastern USA. The sample of 18 participants consisted of groups divided by gender and current use, past use, or never having taken hydroxyurea. Ten (56%) participants were males; most were Black/African American (83%) and had an average age of 39.4years. This study reports a qualitative, thematic analysis of two of 14 areas assessed by a larger study: experiences of discrimination and relationships with providers. Participants described experiences of bias related to their diagnosis of SCD as well as their race, and often felt stereotyped as "drug-seeking." They also identified lack of understanding about SCD and poor communication as problematic and leading to delays in care. Finally, participants provided recommendations on how to address issues of discrimination.

Healthcare Professionals' Knowledge, Attitudes, and Practices in the Assessment, and Management of Sickle-Cell Disease: A Meta-Aggregative Review.

Sickle Cell Disease (SCD) presents significant health challenges globally. Despite its prevalence in diverse geographical regions, there is a paucity of literature synthesizing evidence on healthcare professionals' knowledge, attitudes, and practices (KAP) toward SCD assessment and management. This meta-aggregative review systematically examined and synthesized existing qualitative research to elucidate healthcare professionals' KAP regarding SCD assessment and management. This meta-aggregative review followed Aromataris and Pearson's guidelines and the PRISMA framework for systematic review reporting. The search was conducted in Scopus, PubMed, Embase, CINAHL Web of Science, Google Scholar, Dimensions AI, and HINARI. Quality appraisal was performed using the Joanna Briggs Institute tool. Healthcare professionals (HCPs) demonstrate varying levels of KAP toward SCD assessment and management. Studies reveal low-to-moderate levels of general knowledge among HCPs, with nurses often exhibiting poorer understanding than physicians. Deficiencies in awareness of specific interventions, such as chemoprophylaxis and prenatal diagnosis, are noted, along with gaps in SCD assessment and diagnosis, particularly in pain management and premarital screening. Attitudes toward SCD patients vary, and practices reveal inconsistencies and deficiencies, including inadequate nutritional counseling and barriers in emergency departments. However, interventions aimed at improving HCPs' KAP show promise in enhancing understanding and attitudes toward SCD, suggesting potential avenues for improvement. Educational initiatives targeted at both student nurses and practicing healthcare providers, coupled with the implementation of standardized protocols and guidelines, can enhance knowledge acquisition and promote consistent, high-quality care delivery. Future studies should improve the quality of their methods in this area of study.

Early Detection of Renal Complication in Children With Sickle Cell Disease: A Single Center Prospective Study.

This observational cross-sectional study aimed to identify predictors of renal complications in pediatric patients with sickle cell disease (SCD) at King Salman Armed Forces Hospital, Tabuk, Saudi Arabia, over six months from February 2023 to July 2023. The study evaluated microalbuminuria as an early indicator of renal injury and explored its correlations with clinical and laboratory parameters and abdominal ultrasound (US) findings. Included were pediatric patients aged 1 to 14 years with confirmed SCD, excluding those with acute infections or pre-existing renal diseases. Data from 100 patients' electronic medical records were analyzed using IBM SPSS Statistics for Windows, Version 26 (Released 2019; IBM Corp., Armonk, New York, United States), with a significance set at p ≤ 0.05. The mean age was 7.6 ± 3.3 years, with 51 males and 49 females; 11 were diagnosed with Hb-S-beta thalassemia. Hydroxyurea (HU) compliance was high, with only four non-compliant patients, though all took folic acid. Among 42 tested for albuminuria, all had negative results (<30 mg/g creatinine). A significant association was found between SCD diagnosis and kidney, ureter, and bladder (KUB) US results (p=0.008), with abnormal KUB findings more prevalent in the Hb-S-beta thalassemia group. Patients with abnormal KUB results had significantly lower mean weight (p=0.024). Additionally, Hb-S-beta thalassemia patients had lower mean weight than hemoglobin SS (HGSS) patients (p=0.04). Though not statistically significant, Hb-S-beta thalassemia patients had higher mean systolic blood pressure (p=0.053). Significant associations were identified between SCD diagnosis type and renal US results, with lower body weight emerging as a potential predictor of renal complications. High HU compliance and its impact on renal outcomes warrant further investigation. Routine monitoring of microalbuminuria and KUB US may aid early detection of renal complications in pediatric SCD patients. Further studies with larger sample sizes are recommended to validate these findings and develop comprehensive renal protective strategies.

Utility of Low-cost Paper Based Haemoglobin Solubility Test for the Rapid Diagnosis of Sickle Cell Disease

Utility of Low-cost Paper Based Haemoglobin Solubility Test for the Rapid Diagnosis of Sickle Cell Disease

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.

Aptamer-based label-free electrochemical biosensors for the diagnosis of sickle cell anemia

Aptamer-based label-free electrochemical biosensors for the diagnosis of sickle cell anemia

The Association between Sickle Cell Disease and Postpartum Severe Maternal Morbidity.

To compare the risk of severe maternal morbidity (SMM) from the delivery admission to 42 days' postdischarge among persons with sickle cell disease (SCD) to those without SCD. This retrospective cohort study included deliveries ≥20 weeks' gestation at an urban safety net hospital in Atlanta, GA from 2011 to 2019. The exposure was SCD diagnosis. The outcome was a composite of SMM from the delivery admission to 42 days' postdischarge. SMM indicators as defined by the Centers for Disease Control and Prevention were identified using the International Classification of Diseases, Ninth and Tenth Revisions (ICD-9/10) codes; transfusion of blood products and sickle cell crisis were excluded. Of N = 17,354 delivery admissions, n = 92 (0.53%) had SCD. Persons with SCD versus without SCD had an increased risk of composite SMM (15.22 vs. 2.29%, p < 0.001), acute renal failure (6.52 vs. 0.71%, p < 0.001), acute respiratory distress syndrome (4.35 vs. 0.17%, p < 0.001), puerperal cerebrovascular disorders (3.26 vs. 0.10%, p < 0.001), sepsis (4.35 vs. 0.42%, p < 0.01), air and thrombotic embolism (5.43 vs. 0.10%, p < 0.001), and ventilation (2.17 vs. 0.09%, p < 0.01). Ultimately, those with SCD had an approximately 6-fold higher incidence risk ratio of SMM, which remained after adjustment for confounders (adjusted incidence risk ratio [aIRR]: 5.96, 95% confidence interval [CI]: 3.4-9.19, p < 0.001). Persons with SCD in active vaso-occlusive crisis at the delivery admission had an approximately 9-fold higher risk of SMM up to 42 days' postdischarge compared with those with SCD not in crisis at the delivery admission (incidence: 25.71 vs. 8.77%, p < 0.05; aIRR: 8.92, 95% CI: 4.5-10.04, p < 0.05). Among those with SCD, SMM at the delivery admission was primarily related to renal and cerebrovascular events, whereas most postpartum SMM was related to respiratory events or sepsis. SCD is significantly associated with an increased risk of SMM during the delivery admission and through 42 days' postdischarge. Active crisis at delivery further increases the risk of SMM. · Sickle cell disease was associated with an approximately 6-fold increased risk of SMM.. · Active vaso-occlusive crisis at delivery was associated with an approximately 9-fold increased risk of SMM.. · 48% of SMM events in persons with SCD occurred postpartum and were respiratory- or sepsis-related..

Impact of hospitalized vaso-occlusive crises in the previous calendar year on mortality and complications in adults with sickle cell disease: a French population-based study

BackgroundHistorically, sickle cell disease (SCD) patients experiencing frequent hospitalized vaso-occlusive crises (HVOC) have been associated with increased mortality, yet recent data reflecting the widespread use of hydroxyurea and advancements in disease management remain limited. Our study aims to assess the association between HVOC and mortality or severe complications in patients with SCD in this new treatment landscape. MethodsThis was a retrospective observational cohort study using the French national health data system. Between 01-01-2012 and 12-31-2018, all SCD patients ≥16 years old (ICD-10 codes D57·0-2) were included and followed until 12-31-2018. HVOC was defined as a hospitalization of ≥1 night with primary diagnosis of SCD with crisis, following an emergency room visit. The association between HVOC and severe complications was assessed with a Cox proportional hazards model. FindingsIn total, 8 018 patients (56·6% females; 4 538/8 018) were included. The 2018 SCD standardized one-year period prevalence was 17·9 cases/100 000 person-years [17·4;18·3]. The mean rate was 0.84 (1·88) HVOC/person-year. In 2018, 70% (5 323/7 605), 22% (1 671/7 605), and 8% (611/7 605) of patients experienced 0, 1–2, or 3+ HVOCs, respectively. The median survival time between HVOCs was 415 days [386;439]. Overall, 312 patients died (3·9%) with a mean age of 49·8 (19·4). Compared to patients without HVOC, the hazard ratios of death in patients with 1–2 or 3+ HVOCs the year prior to death were 1·67 [1·21;2·30] and 3·70 [2·30;5·93], respectively. Incidence of acute chest syndrome, pulmonary embolism, osteonecrosis, and sepsis increased with the HVOCs category, but not stroke. In 2018, 29·5% (180 / 611) of patients with 3+ HVOCs did not take hydroxyurea. InterpretationPatients must be closely monitored during their hospitalizations to intensify treatment and check treatment compliance. Innovative therapies are also required. FundingThe study was funded by Novartis.

Abstract 3470: Evaluation of the association between sickle cell disease and breast cancer using the All of Us Research Program dataset

Abstract Background: The All of Us Research Program (AoURP) dataset was used to evaluate pharmacological treatment modalities in patients with both breast cancer (BC) and sickle cell disease (SCD). This study aims to identify treatment strategies for sickle cell patients with BC that may inform improved treatment options for patients living with either or both conditions, as there is an imminent need in this patient population. Methods: We investigated the relationship between SCD and BC using the AoURP dataset. Criteria were female patients with a confirmed diagnosis of concomitant SCD and BC were selected. Hematologic, antineoplastics, and immunomodulating agents prescribed to patients were identified. Analysis was conducted in a Jupyter Notebook environment by way of R. Using FDA-approved and off-label indications, medication use patterns were used to reverse-engineer patient information and identify trends between SCD and BC. Results: Nine female patients had concomitant diagnoses of SCD and BC, which aligned with the inclusion criteria. African Americans were significantly represented in this cohort, making up sixty-seven of patients. Twenty-two percent of patients did not indicate race, while eleven percent of patients identified as Caucasian. All patients included in the study were prescribed anemic therapy. Eleven percent of patients were prescribed an FDA-approved medication for SCD. Seventy-eight percent of patients were prescribed hormone-targeted BC medications. Thirty-three percent of patients were prescribed the immunotherapy regimen, Dinutuximab with adjunctive interferon-alpha. Eleven percent of patients were prescribed cytotoxic therapy. Conclusion: Further investigation is warranted for dinutuximab use in BC treatment, specifically the triple negative subtype, as currently no targeted therapeutic options exist, and prognosis is poor. The data suggests dinutuximab with adjunctive interferon-alpha may be promising for triple-negative BC patients with SCD. Citation Format: Ivan T. Jubilee, Lauren K. Evans, KiTani Parker Lemieux. Evaluation of the association between sickle cell disease and breast cancer using the All of Us Research Program dataset [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 3470.

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.

Hemoglobinopathies are the commonest monogenic disorder worldwide, with approximately seven percent of the world population being carriers of hemoglobinopathies. The healthcare utilization impact of thalassemia has resulted in global public health initiatives to screen for hemoglobinopathies, especially sickle cell disease (SCD). The Iowa Newborn Screening Program (INSP) has been in place for more than 50 years with a primary focus on detecting SCD. Recent changes in migration patterns have led to a global distribution of hemoglobinopathies in the western world, which has translated to an increase in the diagnosis of SCD and the incidental detection of non-sickling hemoglobinopathies within the INSP. This study documents the birth prevalence of hemoglobinopathies diagnosed in newborns through the INSP and highlights the need for newborn screening programs to evolve to meet the healthcare needs of underserved, minority populations.

Dental caries in the permanent dentition and health-related quality of life among children and adolescents with sickle cell disease.

The aim was to associate living, health and oral health conditions with the quality of life (QL) of children and adolescents (CA) with sickle cell disease (SCD). Of the 120 eligible users of a public hematological service, 106 CA with SCD from 6 to 18 years of age, and their caregivers, answered semi-structured questions about socio-demographic, health and oral health conditions. For QL, we used the validated instrument PedsQLSCD™. The oral clinical examination occurred according to the guidelines of WHO and SB Brazil 2010. The majority of CA were non-white people (88%), mean age of 10.4 (±2.9) years, family income of up to two monthly minimum wages, for 03 to 05 members, with diagnosis of sickle cell anemia by neonatal screening, hospitalizations were due allergic crises, polypharmacy and dental caries (51%) were present. "About the Impact of My Pain" was the best-fit model for the QLSCD (adjusted R²=56%; AIC=28.67; p=0.04). Dental caries in permanent dentition worsened the QLSCD (OR=0.53; IC95%=0.35-0.78; p<0.05) and was associated with the type of school, car ownership, number of family members, of complications and of the medications. To overcome this scenario, programmatic actions are required, and implementation of public policies specifically directed towards these groups.

Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review.

A large proportionof patients with sickle cell disease (SCD) identify as Black or African American (AA). Social bias and stigma in healthcare outcomes for children with SCD are impossible to explore without considering the impact of racial/cultural identity, socioeconomic status (SES), and geography. It is important to understand the current influences of social movements, expanded health insurance coverage, and telehealth on these variables when considering healthcare outcomes for patients with SCD. The objective of this study was to determine the roles of racial identity, SES, and geography in healthcare outcomes for the pediatric population of children with SCD in the United States (US). This study is a scoping review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The databases utilized included Cochrane, CINHAL, Medline, and Nursing and Allied Health Collection, all accessed through the EBSCO Information Services. Studies met the following inclusion criteria: published in English, pediatric patients residing in the US, and published between 2017 and 2022. Search terms included "sickle cell" AND "pediatric", which were then combined with "minority" OR "racial" OR "rural" OR "urban" OR "poverty" OR "income" OR "socioeconomic status". The initial search yielded 635 unique articles, with 17 articles meeting full inclusion criteria. Overall, it was clear that there are examples of positive effects of race, low SES, and rural geographic location on positive health outcomes, though a large number of studies oscillated between showing negative associations or no association at all. Barriers to care for patients with SCD are multifaceted, making it difficult to isolate and analyze the impact of individual variables. Many studies demonstrated the significance of family, community, and institutional relationships as positive support for patients with SCD. This review highlights the need for additional research on the healthcare outcome benefits of patient/familial support groups aiming to bring together patients who share racial experience and SCD diagnosis regardless of SES and geography.

Knowledge and practices of sickle cell disease among healthcare providers in Kinshasa, Democratic Republic of the Congo.

In Kinshasa, Democratic Republic of Congo, there is a low evocation of the diagnosis of sickle cell disease (SCD) by first-level healthcare providers (HCPs), most likely because of poor knowledge of the disease. To assess the levels of knowledge and practices of SCD and to identify determinants of the practices among primary HCPs. Healthcare facilities in Selembao health zone in Kinshasa, Democratic Republic of the Congo. A cross-sectional study of HCPs randomly selected through a two-stage sampling design. Data were collected using a pre-tested interviewer-administered questionnaire. Univariate and bivariate analysis were done to describe the levels of knowledge and practices of SCD. Factors associated with better practices on SCD were determined using multiple linear regression. The threshold for statistical significance wasp˂ 0.05. A total of 318 HCPs, which included 80 physicians and 238 nurses, participated in the study. The participants showed different scores on the components of the knowledge. All the participants showed poor practices on SCD. Multiple linear regression retained overall knowledge of SCD as a significant predictor of better practice for physicians. Knowledge of SCD and duration of work experience were significant predictors of better practices among nurses. The practices of healthcare providers on SCD were far from optimal. These practices were significantly associated with knowledge and experience of healthcare providers.Contribution:This study highlighted the need for continuing professional education to enhance the management of SCD in the setting.

Auditory Neuropathy Spectrum Disorder in Individuals with Sickle Cell Anemia: Case Study.

The present study attempted to understand the association between Auditory neuropathy spectrum disorder (ANSD) and Sickle cell anemia (SCA) and to recognize possible causative factors for the presence of ANSD in SCA individuals. Two cases, 24 years male and 17years female with a laboratory-confirmed diagnosis of Sickle cell anemia underwent detailed audiological evaluation i.e., pure tone audiometry, speech audiometry, immittance audiometry, otoacoustic emission, and auditory brainstem responses. Audiological evaluation revealed a bilateral moderate low-frequency sensorineural hearing loss in male and bilateral moderately severe sensorineural Hearing loss in female case with elevated Speech Recognition Threshold and poor Speech Identification Scores. 'A' type tympanogram with the absence of Acoustic reflexes and the presence of Otoacoustic emission with no distinct and reproducible peak V in Auditory Brainstem Response (ABR) at 90 dBnHL with the presence of ringing cochlear microphonics on polarity reversal collectively indicating bilateral ANSD in both cases. ANSD and SCA are reported to have a genetic basis of etiology. There might be possibilities that one genetic condition may be common in manifesting both conditions or one genetic condition can cause the presence of another genetic condition or can exaggerate the evolution of another genetic condition. Also, abnormal ABR findings indicate the possibility of neuropathological involvement in isolation or in combination with genetic abnormalities that need detailed investigation to understand non-genetic causative factors. Thus, paved the path for further research in this line and might provide better rehabilitative options.

Crowdsourced human-based computational approach for tagging peripheral blood smear sample images from Sickle Cell Disease patients using non-expert users

In this paper, we present a human-based computation approach for the analysis of peripheral blood smear (PBS) images images in patients with Sickle Cell Disease (SCD). We used the Mechanical Turk microtask market to crowdsource the labeling of PBS images. We then use the expert-tagged erythrocytesIDB dataset to assess the accuracy and reliability of our proposal. Our results showed that when a robust consensus is achieved among the Mechanical Turk workers, probability of error is very low, based on comparison with expert analysis. This suggests that our proposed approach can be used to annotate datasets of PBS images, which can then be used to train automated methods for the diagnosis of SCD. In future work, we plan to explore the potential integration of our findings with outcomes obtained through automated methodologies. This could lead to the development of more accurate and reliable methods for the diagnosis of SCD.