Management Of Sickle Cell Disease Research Articles

Mortality, Clinical Complications, and Healthcare Resource Utilization Associated with Managing Transfusion-Dependent β-Thalassemia and Sickle Cell Disease with Recurrent Vaso-occlusive Crises in Italy.

To examine the clinical burden and healthcare resource utilization (HCRU) among patients with transfusion-dependent β-thalassemia (TDT) and patients with sickle cell disease (SCD) with recurrent vaso-occlusive crises (VOCs) in Italy. Eligible patients were identified from an administrative claims database from 1 January 2010 and 1 February 2019. Patients with TDT had ≥ 1 iron chelation treatment, ≥ 8 red blood cell transfusions (RBCTs) during any 12-month period, and ≥ 12 months of available data pre- and post-index (i.e., first RBCT claim). Patients with SCD with recurrent VOCs had ≥ 2 VOCs/year in ≥ 2 consecutive years and ≥ 12 months of available data pre- and post-index (second VOC claim in the second of 2 consecutive years). Patients were propensity score matched to five controls by age, sex, geographic area, and index year. Clinical and HCRU outcomes were evaluated post-index. In total, 214 patients with TDT and 111 patients with SCD with recurrent VOCs were matched to 1070 and 555 controls, respectively. Both patient groups had substantially higher mortality rates than controls (TDT: 4.8 versus 0.8 deaths per 100 person-years; SCD: 1.6 versus 0.4 deaths per 100 person-years). Clinical complications were prevalent in both patient groups. Compared with controls, both patient groups had significantly higher mean rates of all-cause hospitalizations (TDT: 1.4 versus 0.1; SCD: 2.0 versus 0.1) and outpatient services (TDT: 21.9 versus 1.6; SCD: 6.2 versus 1.0) per patient per year (all: p < 0.05). Management of TDT and SCD in Italy is associated with significant clinical and health system burden, highlighting the need for new treatments that eliminate RBCTs and VOCs.

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 Comparative Evaluation of the Antisickling, Elemental and Proximate Analysis of the Leaves of Three Khaya species Found in Nigeria

Sickle cell disease (SCD) is traditionally treated in Nigeria by the Traditional Medical Practitioners (TMPs) with medicinal plants and other plant products. One of the herbs commonly used singly or in combination with other plant materials is Khaya, which is widely distributed in Africa, with three species existing in Nigeria. These are Khaya senegalensis A. Juss (KS), Khaya grandifoliola (WELW) CDC (KG) and Khaya ivorensis A. Chev. (KI). In this study we evaluated the anti-sickling activities of the leaf extracts of the three Khaya species leaves with a view to authenticating the ethnomedicinal claims, and assess the proximate as well as the elemental constituents that may contribute to the properties. Dried leaves of the Khaya species were extracted by cold maceration and Soxhlet methods using water, ethanol and petroleum spirit as extractives. Filtered extracts were concentrated in vacuo at 40oC and dried in a lyophilizer. Inhibitory and reversal models were employed to evaluate their anti-sickling effects on Hb SS red blood cells following standard procedures. Proximate and elemental analysis were determined using the simple analytical procedure as described by the Association of Official Analytical Chemistry (AOAC) of 1987, 13th Edition Washington DC P1094 and Dry Ashing method of AOAC 2006 respectfully. Anti-sickling results showed that the Soxhlet ethanol extracts of the Khaya species demonstrated significant (p≤0.05) ability to reverse and inhibit the sickling of red blood cells in-vitro with KI having the highest inhibitory and reversal of 60.04+1.77% and 74.97+2.23% respectively at 4 mg/ml concentration. The proximate analysis revealed the richness of the Khaya leaves in minerals, proteins and carbohydrates. Khaya leaves contained calcium, magnesium, sodium, phosphorus, and other essential elements within the limits of dietary requirement. Khaya species could therefore be recommended for further development into herbal remedy in the management of sickle cell disease.

Characterizing medical decision-making in sickle cell disease during childhood: Qualitative perspectives of caregivers.

Sickle cell disease (SCD) is the most common genetic disorder among children. As the most common type of SCD, sickle cell anemia (SCA) is associated with severe complications across the lifespan. As parents/caregivers hold primary disease management responsibility during childhood, their involvement in disease management activities, including medical decision-making, is critical to successful and timely management of pediatric SCD. However, the processes through which caregivers make SCD-related decisions remain unknown. The current paper examined caregivers' decision-making processes and priorities when managing their child's SCD. Parents and primary caregivers (N=27) of children with SCA (ages 0-12) completed individual semi-structured qualitative interviews exploring links between caregivers' decision-making and both daily and ongoing SCA management practices. Data were transcribed verbatim, cleaned, systematically coded, and analyzed using applied thematic analysis. Participating caregivers were primarily Black or African American (88.9%), mothers (81.5%), publicly insured (55.6%), and single (51.9%). Caregivers described medical decision-making across acute symptom response, preventive disease management, and treatment initiation and/or discontinuation. Across these contexts of disease management, caregivers overarchingly prioritized protecting and improving their child's quality of life. Caregivers' medical decision-making processes were influenced by their SCA management experience, acquisition of SCA knowledge, and trust in medical providers. The extent to which these influences impacted caregivers' decision-making varied based on disease severity, disease management experience, and time since diagnosis. Findings highlight how processes underlying caregivers' decision-making are directly influenced and informed by caregivers' lived experiences. Future work should develop provider-initiated collaborative interventions to support medical decision-making.

A Systematic Review of Medicinal Plants and Their Compounds Validated as Agents for the Management of Sickle Cell Disease

Some plants used in traditional medicine to manage sickle cell disease have been validated pharmacologically to ascertain their anti-sickling properties. However, there is no global systematic review of the evidence in support of their use for sickle cell management. This research aimed to conduct a systematic review of the pharmacological evidence to highlight species, genera, and some phytochemicals which could be primed for novel anti-sickling medications. The Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines were used. Articles in English, published from 2000 to 2022 were included in the analysis. The literature search covered 411 publications of which 82 were found to be eligible. More than half (53.65%) of the articles were published from 2016 to 2022. Anti-sickling research from Africa accounted for 86.58% of the publications, with more than half coming from Nigeria, 12.20% from Asia and only 1.22% from Europe. The Fabaceae, Euphorbiaceae, and Annonaceae were the top three plant families whereas Zanthoxylum and Terminalia were the most reported genera. Carica papaya and Terminalia catappa were the most reported species. Sickling reversal ( n = 33/82) and hemoglobin polymerization studies ( n = 29/82) were the most reported assays. Benzoic acid derivatives, butyl stearate, ellagic acid derivatives, and some pentacyclic triterpenoids were the only plant derived compounds validated for anti-sickling activities. A total of 117 plant species with anti-sickling activities were documented. Studies on secondary metabolites with anti-sickling properties to serve as scaffolds for novel drug development for sickle cell management were limited.

Epidemiological profile trends and cost of pediatric sickle cell disease in Brazil from 2008 to 2022

ObjectiveThis study aimed to investigate the epidemiological trends of Pediatric Sickle Cell Disease (SCD) in Brazil over the period 2008–2022, with a focus on understanding the incidence, mortality rates, and associated healthcare costs. The study explored potential associations between patient characteristics and the occurrence of crises in pediatric SCD cases. MethodsA cross-sectional study was conducted, analyzing national annual rates of pediatric SCD hospitalizations using data from the FioCruz platform. Descriptive and inferential analyses, including time series and ARIMA regression, were employed. Economic dimensions were assessed using cost categorization. The study followed STROBE reporting guidelines. ResultsData on 81,942 pediatric SCD hospitalizations were collected, with a predominance of crisis-related cases (74.08 %). Males and children under five years old were most affected. Regional disparities were observed, with the Southwest region recording the highest hospitalization rates. ICU costs were higher for crisis-related hospitalizations. Mortality rates were significantly higher for crisis-related cases (p < 0.001), with ARIMA regression indicating a significant association between hospitalizations for crisis-related cases and mortality. ConclusionThis study highlights the significant burden of pediatric SCD in Brazil, particularly crisis-related cases, suggesting a need for focused interventions. By prioritizing early detection, equitable access to healthcare, and evidence-based interventions, Brazil can mitigate the burden of SCD and improve patient outcomes. These findings contribute to informing public health policies and interventions aimed at addressing the challenges of pediatric SCD management in Brazil.

Exercise and training in sickle cell disease: Safety, potential benefits, and recommendations.

Sickle cell disease (SCD) is a genetic disorder characterized by complex pathophysiological mechanisms leading to vaso-occlusive crisis, chronic pain, chronic hemolytic anemia, and vascular complications, which require considerations for exercise and physical activity. This review aims to elucidate the safety, potential benefits, and recommendations regarding exercise and training in individuals with SCD. SCD patients are characterized by decreased exercise capacity and tolerance. Acute intense exercise may be accompanied by biological changes (acidosis, increased oxidative stress, and dehydration) that could increase the risk of red blood cell sickling and acute clinical complications. However, recent findings suggest that controlled exercise training is safe and well tolerated by SCD patients and could confer benefits in disease management. Regular endurance exercises of submaximal intensity or exercise interventions incorporating resistance training have been shown to improve cardiorespiratory and muscle function in SCD, which may improve quality of life. Recommendations for exercise prescription in SCD should be based on accurate clinical and functional evaluations, taking into account disease phenotype and cardiorespiratory status at rest and in response to exercise. Exercise programs should include gradual progression, incorporating adequate warm-up, cool-down, and hydration strategies. Exercise training represents promising therapeutic strategy in the management of SCD. It is now time to move through the investigation of long-term biological, physiological, and clinical effects of regular physical activity in SCD patients.

Iron metabolism in sickle cell disease patients undergoing chronic red blood cell exchange: A delicate homeostasis in balance.

Sickle cell disease (SCD) is an inherited haemoglobinopathy associated with significant morbidity and mortality. Automated red blood cell exchange (aRCE) plays a key role in managing SCD, eliciting both therapeutic and prophylactic effects. The ideal post-apheresis Ht target for chronic aRCE treatment is not yet unanimously recognized, as well as iron homeostasis can be different among patients. Ross etal. reported their experience on the chronic management of SCD patients undergoing aRCE with a final post-exchange Ht higher than the value commonly adopted, analysing red blood cell transfusion requirements and iron-related outcomes in the study population. Commentary on: Ross etal. Automated red blood cell exchange with a post-procedure haematocrit targeted at 34% in the chronic management of sickle cell disease. Br J Haematol 2024; 205:1556-1564.

Stroke in sickle cell patients, epidemiology, pathophysiology, systemic and surgical treatment options and prevention strategies

AbstractBackgroundA hereditary haemoglobinopathy known as sickle cell disease (SCD) affects over 100 000 people in the United States severely. Cerebrovascular disease is a prominent consequence of SCD. By the age of 30, 53% of patients have silent cerebral infarcts (SCIs) (a stroke that occurs without any obvious symptoms because it damages a small part of the brain that isn't responsible for any essential functions), and by the age of 40, 3.8% have overt strokes.Main bodyThe multidimensional burden of cerebrovascular illness in SCD is reviewed in detail in this article, which includes both clinical strokes and the frequently asymptomatic SCIs. The intricate pathophysiology of SCD and stroke is explored. With SCD, there are currently very few methods for preventing primary and secondary stroke; the most common ones are hydroxyurea and blood transfusion. Nevertheless, not enough research has been done on the possible contributions of anticoagulation and aspirin to strokes linked to SCD. Promising evidence is also highlighted in the study, suggesting that new drugs intended to treat SCD may be able to alleviate leg ulcers and renal impairment in addition to reducing unusually high transcranial Doppler flow velocity – a crucial component of cerebrovascular events. Given that these novel medications specifically target haemolysis and vaso‐occlusion, the two main causes of strokes in this population, more research is desperately needed to determine whether they are effective in avoiding strokes in people with SCD. The literature review also emphasizes how common healthcare inequities are and how they hinder advancements in SCD research and management in the United States.ConclusionTo successfully address these inequities, the evaluation recommends more funding for both SCD management and research, as well as for patient and clinician education. This multimodal viewpoint highlights the intricate terrain of cerebrovascular problems associated with SCD and the urgent need for all‐encompassing and fair strategies to improve patient outcomes and advance research.

Automated red blood cell exchange with a post-procedure haematocrit targeted at 34% in the chronic management of sickle cell disease.

Optimal targets for red blood cell exchange (RCE) are not well defined in the chronic management of sickle cell disease. We analysed transfusion requirements and iron-related outcomes in 101 patients on chronic RCE with a post-procedure haematocrit (Ht) targeted at 34%, which is higher than typically used. A majority were of HbSS/HbSβ0 genotype (n = 72) and enrolled for neurological complications (n = 53). Fifty patients had a positive Ht balance with RCE (>2% mean increase from pre-procedure level), while 43 patients maintained a neutral balance. The first group required fewer red blood cell units/year (65 vs. 80, p < 0.001), but a significant proportion were iron overloaded based on R2* with liver MRI (32% vs. none performed) and prescription of iron chelation (52% vs. 0%, p < 0.001, after a median of 19 months). The second group was more likely to receive iron supplementation (6% vs. 56%, p < 0.001). Chronic automated RCE with a post-procedure Ht targeted at 34% is not iron-neutral, and personalized Ht goals may be more appropriate in certain settings. This higher target should be compared with a lower Ht strategy in individuals with similar baseline red cell volumes to assess iron homeostasis and blood product requirements.

Non-invasive optical and laboratory hematologic biomarkers correlate in patients with sickle cell disease.

The goal of this study is to identify non-invasive optical hemodynamic biomarkers that can index laboratory hematology measurements in sickle cell disease (SCD). We acquired frequency-domain NIRS (FD-NIRS) and diffuse correlation spectroscopy (DCS) data from the forearms and foreheads of 17 participants in a randomized, double-blind, placebo-controlled trial evaluating effects of isoquercetin (IQ) on thromboinflammation in SCD. We observed multiple, significant correlations between optical and hematology biomarkers including cerebral tissue oxygen saturation (StO2) and hematocrit (HCT); oxyhemoglobin ([O2Hb]) recovery rate and intercellular adhesion molecule 1 (ICAM-1); and blood flow index (BFI) reperfusion rate and coagulation index (CI). The potential of these non-invasive optical biomarkers for assessing vascular pathophysiology for the management of SCD warrants further exploration.

Towards genomic medicine: a tailored next-generation sequencing panel for hydroxyurea pharmacogenomics in Tanzania

BackgroundPharmacogenomics of hydroxyurea is an important aspect in the management of sickle cell disease (SCD), especially in the era of genomic medicine. Genetic variations in loci associated with HbF induction and drug metabolism are prime targets for hydroxyurea (HU) pharmacogenomics, as these can significantly impact the therapeutic efficacy and safety of HU in SCD patients.MethodsThis study involved designing of a custom panel targeting BCL11A, ARG2, HBB, HBG1, WAC, HBG2, HAO2, MYB, SAR1A, KLF10, CYP2C9, CYP2E1 and NOS1 as potential HU pharmacogenomics targets. These genes were selected based on their known roles in HbF induction and HU metabolism. The panel was designed using the Illumina Design Studio (Illumina, San Diego, CA, USA) and achieved a total coverage of 96% of all genomic targets over a span of 51.6 kilobases (kb). This custom panel was then sequenced using the Illumina MiSeq platform to ensure high coverage and accuracy.ResultsWe are reporting a successfully designed Illumina (MiSeq) HU pharmacogenomics custom panel encompassing 51.6 kilobases. The designed panel achieved greater than 1000x amplicon coverage which is sufficient for genomic analysis.ConclusionsThis study provides a valuable tool for research in HU pharmacogenomics, especially in Africa where SCD is highly prevalent, and personalized medicine approaches are crucial for improving patient outcomes. The custom-designed Illumina (MiSeq) panel, with its extensive coverage and high sequencing depth, provides a robust platform for studying genetic variations associated with HU response. This panel can contribute to the development of tailored therapeutic strategies, ultimately enhancing the management of SCD through more effective and safer use of hydroxyurea.

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.

Concomitant sickle cell disease and systemic lupus erythematosus: A single-center case series.

Sickle cell disease (SCD) and systemic lupus erythematosus (SLE) are two uncommon disorders each characterized by multisystemic manifestations. Individuals with SCD exhibit abnormalities in the complement pathway, which may predispose patients to develop autoimmune disorders such as SLE. As many manifestations of SLE mimic those of SCD, diagnosis and therapeutic management of SLE in a patient with known SCD may be delayed. In this study, we describe our institutional experience of diagnosing and managing concomitant SCD and SLE. We offer insights into the complex interplay between these conditions to enhance early recognition and effective management of concurrent SCD and SLE.

Advancing therapeutic strategies and future innovations in sickle cell disease management

Advancing therapeutic strategies and future innovations in sickle cell disease management

Bridging Gaps: A Quality Improvement Project for the Continuing Medical Education on Stick (CMES) Program.

Aimed at bridging the gap in continuing medical education (CME) resource availability in low- and middle-income countries (LMICs), the "Continuing Medical Education on Stick" (CMES) program introduces two technological solutions: a universal serial bus (USB) drive and the CMES-Pi computer facilitating access to monthly updated CME content without data cost. Feedback from users suggests a lack of content on tropical infectious diseases (IDs) and content from a Western perspective, which may be less relevant in LMIC settings. This quality improvement project was intended to identify areas for improvement of the CMES database to better meet the educational needs of users. We compared the CMES content with the American Board of Emergency Medicine (ABEM) Exam content outline to identify gaps. The curriculum map of the CMES library, encompassing content from 2019 to 2024, was reviewed. An anonymous survey was conducted among 47 global users to gather feedback on unmet educational needs and suggestions for content improvements. All healthcare workers who were members of the CMES WhatsApp group were eligible to participate in the survey. The curriculum map included 2,572 items categorized into 23 areas. The comparison with the ABEM outline identified gaps in several clinical areas, including procedures, traumatic disorders, and geriatrics, which were represented -5%, -5%, and -4% in the CMES library compared with the ABEM outline, respectively. Free responses from users highlighted a lack of content on practical skills, such as electrocardiogram (ECG) interpretation and management of tropical diseases. Respondents identified emergency medical services (EMS)/prehospital care (81%), diagnostic imaging (62%), and toxicology/pharmacology (40%) as the most beneficial areas for clinical practice. In response to feedback from users, new content was added to the CMES platform on the management of sickle cell disease and dermatologic conditions in darkly pigmented skin. Furthermore, a targeted podcast series called "ID for Users of the CMES Program (ID4U)" has been launched, focusing on tropical and locally relevant ID, with episodes now being integrated into the CMES platform. The project pinpointed critical gaps in emergency medicine (EM) content pertinent to LMICs and led to targeted enhancements in the CMES library. Ongoing updates will focus on including more prehospital medicine, diagnostic imaging, and toxicology content. Further engagement with users and education on utilizing the CMES platform will be implemented to maximize its educational impact. Future adaptations will consider local relevance over the ABEM curriculum to better serve the diverse needs of global users.

Exagamglogene autotemcel: a beacon of hope for severe sickle cell disease and thalassemia management

Exagamglogene autotemcel: a beacon of hope for severe sickle cell disease and thalassemia management

Alloimmunization and autoimmunization among multitransfused thalassemia and sickle cell disease patients

Blood transfusion is the mainstay for management of hemoglobinopathies, including thalassemia and sickle cell disease (SCD). Apart from other transfusion related adverse effects, immunization is a significant complication, particularly in multitransfused recipients. Alloimmunization rates vary widely, both in thalassemia and SCD patients. Alloimmunization complicates the management in form of hemolytic transfusion reactions, difficulty in finding compatible units, delays in transfusion and increasing costs. Exact pathogenesis and prevention modality have not been elucidated. Apart from antigenic differences, immunomodulatory effects and inflammation also play a role in pathogenesis. Ethnic heterogeneity between donors and recipients predisposes to higher alloimmunization.Transfusion management of hemoglobinopathies across the globe is fragmented, with different levels of care. Guidelines propose red cell antigen profiling, transfusion of leucoreduced red cells, preferably matched for Rh and Kell antigens, over and above ABO-D matching. For alloimmunized patients, corresponding antibody negative red cells need to be transfused. However, patients from different backgrounds are variably transfused with whole blood/red cells, which may or may not be leukoreduced. Prophylactic antigen matching reduces the risk of alloimmunization, however, has limitations. RH variants may not be picked up by phenotyping alone. Moreover, the approach of prophylactic antigen matching is expensive, labour intensive, time consuming and may cause delays in transfusions. There is limited, low quality evidence on best practices for transfusion management of SCD and thalassemia. The review analyses the magnitude of problem, factors contributing and modalities for prevention and management of immunization.

Anti-sickling effect of Vigna subterranean (L.) Verdc on sickle cell beta thalassemia

Sickle cell disease affects millions of people worldwide and has been recognized as a global health concern by WHO. Presently, there is no cure for sickle cell disease. Treatment options which include bone marrow, stem cell transplantation, blood transfusions, and hydroxyurea are not only expensive but have their side effects. Medicinal plants are often employed in the treatment of diseases because of the therapeutic effects of the secondary metabolites in them. Vigna subterranean an important leguminous crop in Africa, is used in some parts of the world for the treatment and management of sickle cell disease. However, there are no established link between the use of Vigna subterranean and their pharmacological effects. The present study investigated the therapeutic effect of Vigna subterranean on a variant of sickle cell disease known as sickle cell beta thalassemia. Parameters such as reversibility test, polymerization test, osmotic fragility test, deoxygenation test, beta synthesis and oxy-haemoglobin concentration were used to study the anti-sickling potentials of sickle cell beta thalassemia. The result showed that the plant extract reversed the sickled cells, reduced the rate of polymerization, maintained the stability of the cell membrane, increased beta globin synthesis and increased the oxy-haemoglobin concentration. This suggests that Vigna subterranean possesses anti-sicking properties and could be used as an effective therapeutic for the treatment and management of sickle cell beta thalassemia.

Revolutionary breakthrough: FDA approves CASGEVY, the first CRISPR/Cas9 gene therapy for sickle cell disease.

Sickle cell disease (SCD) is a hereditary hemoglobinopathy resulting from a β-globin chain mutation that causes abnormal hemoglobin (HbS) polymerization and leads to severe complications. Current treatment options primarily focus on symptom management, with limited curative potential. Recently, Casgevy, the first CRISPR/Cas9-based gene therapy for SCD, has received breakthrough FDA approval. Clinical trials have shown that Casgevy administered to patients aged older than or equal to 12 years enables precise modifications in hematopoietic stem cells, resulting in elevated fetal hemoglobin (HbF) levels and a significant reduction in vaso-occlusive events. Unlike conventional treatments, this therapy offers a curative approach and eliminates the need for recurrent transfusions and transplants, thereby improving the quality of life of patients with SCD. Casgevy has emerged as a beacon of hope for SCD patients and signifies a potential paradigm shift in SCD management due to its safety, curative potential, and transformative impact, positioning it as a groundbreaking intervention. Nevertheless, ethical considerations surrounding CRISPR technology and regulatory frameworks must be addressed to ensure responsible application and equitable access to this one-time gene editing therapy. As the authors celebrate this scientific advancement, sustained interdisciplinary collaboration and ethical scrutiny are essential to navigating the evolving landscape of CRISPR technology in medicine. This review aims to provide a detailed insight into the application of Casgevy, challenges associated with its application, future prospects of this therapy, and its comparison with existing treatment options for SCD.