Sickle Cell Research Articles

B - 102 Neurocognitive Functioning of Patients Diagnosed with Sickle Cell Disease in Low-to-Middle Income Countries

Abstract Objective Sickle Cell Disease (SCD) is a monogenic blood disorder affecting the production of hemoglobin, a protein that carries oxygen to all vital organs in the body. As a result, insufficient oxygen delivery and cerebrovascular complications often occur which can affect neurocognitive performance. In low-to-middle-income countries (LMIC) where health care and treatment of the disease are harder to access, there is minimal neurocognitive surveillance. Our research aim was to evaluate the neurocognitive impact of SCD in children living in LMIC and establish which neurocognitive assessment measures are commonly used in SCD samples worldwide. Data Selection To analyze this, a librarian created search terms in studies from Embase, PubMed, Web of Science, Global Health CABI, ERIC, CINAHL, and PsycINFO. Studies that focused on participants with SCD of any genotype with a measure for cognitive/academic outcomes were included while commentaries and editorials were excluded. Two research assistants screened 1831 abstracts in Covidence, 52 abstracts were chosen for full-text review, and 18 articles were ultimately included for data extraction. Data Synthesis A systematic review was used to analyze these studies. Most of the studies were conducted in African and Middle Eastern countries and Brazil. Common measures included the Wechsler Intelligence Scale for Children or Adults. Information regarding cultural or language adaptations of neurocognitive measures was rarely reported. Several of the studies demonstrated that individuals with SCD have lower neurocognitive functioning compared to a non-SCD control group. Conclusion Further research is needed regarding the validity of neurocognitive measures used in LMIC among patients diagnosed with SCD.

B - 101 Associations between Oxygen Saturation and Neurocognitive Performance in Sickle Cell Disease

Abstract Objective Patients with sickle cell disease (SCD) are at risk for neuropsychological deficits. Studies have documented that peripheral oxygen saturation is associated with neurocognitive performance, but the results are inconsistent. Our objective was to examine the associations between oxygen saturation and neurocognitive performance in SCD using several different measurement techniques. Methods A lifetime cohort study of 413 patients ranging from 8–25 years of age (Mean = 14.18, Standard Deviation = 4.81) diagnosed with SCD (60% HbSS) received a neuropsychological evaluation including measures of intelligence, processing speed, and working memory. Analyses were conducted separately based on SCD genotype (HbSS/Sβ0 vs. HbSC/SB+). Oxygen saturation values were examined as predictors of neurocognitive performance based on 1) mean lifetime value, 2) lifetime standard deviation, 3) most recent value (within 3 months from neuropsychological assessment), and 4) change over time. Measurement types were entered into separate multivariable models covarying for age, sex, socioeconomic status and hydroxyurea usage. Results Among patients diagnosed with HbSS/Sβ0genotypes, the lifetime standard deviation in oxygen saturation was associated with working memory (pFDR = 0.004) and the change over time in oxygen saturation was associated with processing speed (pFDR <0.001). There were no associations between oxygen saturation and neurocognitive performance among patients with the SC/SB+ genotypes. Conclusions Associations between oxygen saturation and neurocognitive performance in SCD differ based on when the values are collected and how they are analyzed. Our analyses suggest that the change over time and variability in oxygen saturation is most predictive of neurocognitive performance.

A - 87 Exploring the Utility of the Montreal Cognitive Assessment to Identify Neurocognitive Deficits among Adult Patients with Sickle Cell Disease

Abstract Objective Neurocognitive deficits associated with sickle cell disease (SCD) have been well established in the pediatric population but studies examining the adult neurocognitive profile are lacking. This study examined the utility of the Montreal Cognitive Assessment (MoCA) to screen patients for cognitive impairments within a multidisciplinary adult sickle cell clinic. Method Patients who presented to their scheduled appointment at the UCSF Benioff Children’s Hospital Oakland Adult Sickle Cell Clinic were provided psychoeducation and offered neurocognitive screening. Those that accepted completed a brief clinical interview and were screened with the MoCA by neuropsychology externs or a licensed clinical psychologist. Results A sample of 24 patients (M age = 37.63, age range = 18–75; female =58.33%) were screened with the MoCA. Of patients screened, 41.67% (n = 10) were identified as mildly impaired (M score = 22) and 16.67% (n = 4) were identified as moderately impaired (M score = 15.5), consistent with other studies in the literature. Overall MoCA score and the memory subdomain were both negatively correlated with increasing age (r = −0.15, p < 0.05 and r = −0.06, p < 0.05 respectively). Conclusions Utilizing the MoCA, our study demonstrates a notable prevalence of cognitive impairment identified in 58.43% of adult SCD patients, with a marked decline associated with advancing age. These findings suggest the MoCA’s utility; however, further research is needed to understand the validity of this measure in detecting the varying levels of cognitive impairment in adult SCD patients. Such measures could significantly enhance the care and quality of life for individuals with SCD and address age disparities in SCD, where resources for adult patients are much more limited.

Sickle Cell Hemoglobin "Drugged" with Cyclic Peptides Is Aggregation Incompetent.

Sickle cell disease (SCD) is a monogenic blood disorder associated with a mutation in the hemoglobin subunit β gene encoding for the β-globin of normal adult hemoglobin (HbA). This mutation transcribes into a Glu-β6 → Val-β6 substitution in the β-globins, inducing the polymerization of this hemoglobin form (HbS) when in the T-state. Despite advances in stem cell and gene therapy, and the recent approval of a new antisickling drug, therapeutic limitations persist. Herein, we demonstrate through molecular dynamics and umbrella sampling, that (unrestrained) blockage of the hydrophobic pocket involved in the lateral contact of the HbS fibers by 5-mer cyclic peptides, recently proposed as SCD aggregation inhibitors (Neto, V.; J. Med. Chem. 2023, 66, 16062-16074), is enough to turn the dimerization of HbS thermodynamically unfavorable. Among these potential drugs, some exhibit an estimated pocket abandonment probability of around 15-20% within the simulations' time frame, and an impressive specificity toward the mutated Val-β6. Additionally, we show that the dimerization can be thermodynamically unfavored by blocking a nearby region while the pocket remains vacant. These results are compared with curcumin, an antisickling molecule and a pan-assay interference compound, with a good binding affinity for different proteins and protein domains. Our results confirm the potential of some of these cyclic peptides as antisickling drug candidates to reduce the concentration of aggregation-competent HbS.

Treating Sickle Cell Disease: Gene Therapy Approaches.

Sickle cell disease (SCD) is a hereditary blood disorder characterized by the presence of abnormal hemoglobin molecules and thus distortion (sickling) of the red blood cells. SCD causes chronic pain and organ damage and shortens life expectancy. Gene therapy emerges as a potentially curative approach for people with SCD who lack a matched sibling donor for hematopoietic stem cell transplantation. Here, we review recent progress in gene therapy for SCD and focus on innovative technologies that target the genetic roots of the disease. We also review the challenges associated with gene therapy, including oncogenic risks, and the need for refined delivery methods. Despite these hurdles, the rapidly evolving landscape of gene therapy for SCD raises hope for a paradigm shift in the treatment of this debilitating disease. As research progresses, a deeper understanding of the molecular mechanisms involved and continuous improvements in gene-editing technologies promise to bring gene therapy for SCD closer to mainstream clinical application, offering a transformative, curative option for patients with this genetic disorder.

Detectability of white matter cerebral blood flow using arterial spin labeling MRI in patients with sickle cell disease: Relevance of flow territory, bolus arrival time, and hematocrit.

Sickle cell disease (SCD) is the most common genetic blood disorder, characterized by red cell hemolysis, anemia, and corresponding increased compensatory cerebral blood flow (CBF). SCD patients are at high risk for cerebral infarcts and CBF quantification is likely critical to assess infarct risk. Infarcts primarily localize to white matter (WM), yet arterial spin labeling (ASL) MRI, the most common non-invasive CBF approach, has poor WM CBF sensitivity owing to low WM CBF and long WM bolus arrival time (BAT). We hypothesize that anemia, and associated cerebral hyperemia, in SCD leads to improved WM detection with ASL. We performed 3-Tesla multi-delay pulsed ASL in SCD (n = 35; age = 30.5 ± 8.3 years) and control (n = 15; age = 28.7 ± 4.5 years) participants and applied t-tests at each inversion time within different flow territories, and determined which regions were significantly above noise floor (criteria: one-sided p < 0.05). Total WM CBF-weighted signal was primarily detectable outside of borderzone regions in SCD (CBF = 17.7 [range = 12.9-25.0] mL/100 g/min), but was largely unphysiological in control (CBF = 8.1 [range = 7.6-9.9)] mL/100 g/min) participants. WM BAT was reduced in SCD versus control participants (ΔBAT = 37 [range = 46-70] ms) and BAT directly correlated with hematocrit (Spearman's-ρ = 0.62; p < 0.001). Findings support the feasibility of WM CBF quantification using ASL in SCD participants for appropriately parameterized protocols.

Inpatient Management of Pain Episodes in Children with Sickle Cell Disease: A Review.

Sickle cell disease (SCD) is the most common hemoglobinopathy in the world. Sickle cell vaso-occlusive episodes (VOEs) are very painful acute events and the most common complication as well as reason for hospitalization. SCD pain is best evaluated holistically with a pain functional assessment to aid in focusing pain management on reducing pain in addition to improving function. Patients with SCD have long endured structural racism and negative implicit bias surrounding the management of pain. Thus, it is important to approach the management of inpatient pain systematically with the use of multi-modal medications and nonpharmacologic treatments. Furthermore, equitable pain management care can be better achieved with standardized pain plans for an entire system and individualized pain plans for patients who fall outside the scope of the standardized pain plans. In this article, we discuss the best practices to manage SCD VOEs during an inpatient hospitalization.

The Association Between Sickle Cell Anemia and Cognitive Dysfunction: A Systematic Review.

A kind of hemoglobinopathy known as sickle cell anemia (SCA) is characterized by aberrant hemoglobin molecules. The most frequent neurological side effects linked to SCA include neurocognitive dysfunction, asymptomatic cerebral infarction, and ischemic stroke.This study aims to investigate the relationship between SCA and cognitive dysfunction.We systematically searched electronic databases like PubMed, MEDLINE, Science Direct, and Scopus. Two independent reviewers screened and extracted data from eligible studies.Eighteen studies, including 2,457 participants in total and nearly half of them 1,151 (46.8%) were males, were included in our data. The prevalence of cognitive dysfunction in the adult population ranged from 11.5% to 70%. Cognitive dysfunction among adults was significantly associated with poorer educational status, reduced family income, decreased kidney function, older age, stroke history, and vasculopathy. The prevalence of cognitive dysfunction in children ranged from 10.2% to 68.2%. The decline in cognitive function among adults was significantly associated with children over the age of four, abnormal transcranial Doppler and previous stroke, school absence, age beyond 13, and increased BMI.Cognitive function deficiencies are a defining feature of SCA that affects people of all ages. These findings suggest that if cognitive decline is not slowed down, or better still, stopped, medical interventions targeting a variety of sequelae in this population will be ineffective. Future analyses of this population's cognition should evaluate the environmental and other biological variables.

Secretory Phospholipase A2 as a Promising Biomarker for Predicting Acute Chest Syndrome in Children With Sickle Cell Disease: A Systematic Review and Meta-Analysis.

Acute chest syndrome (ACS) is a severe and potentially life-threatening complication of sickle cell disease (SCD). Early identification of patients at risk for ACS is crucial for timely intervention. There is a potential association between ACS and elevated levels of secretory phospholipase A2 (sPLA2), an enzyme involved in the breakdown of phospholipids. sPLA2 has emerged as a promising biomarker for predicting ACS. This systematic review and meta-analysis aimed to assess the diagnostic value of PLA2 in predicting ACS among children with SCD. A comprehensive search was conducted across multiple databases, including MEDLINE, Embase, Cochrane Library, PubMed, and Web of Science. Studies assessing the relationship between sPLA2 levels and ACS in SCD patients were included. Pooled sensitivity, specificity, likelihood ratios, and the area under the receiver operating characteristic curve (AUC) were calculated to assess sPLA2's diagnostic accuracy. There is a potential association between significant association between elevated sPLA2 levels and increased ACS risk in SCD patients. The pooled sensitivity of sPLA2 for predicting ACS was 0.766 (95% CI: 0.620-0.877), with a pooled specificity of 0.736 (95% CI: 0.680-0.787). The AUC of the summary receiver operating characteristic (SROC) curve was 0.84, indicating good discriminatory ability. sPLA2 emerges as a promising biomarker for predicting ACS in SCD patients, potentially guiding risk stratification and early intervention strategies to enhance patient outcomes. Nonetheless, further prospective studies are warranted to validate its clinical utility and standardize sPLA2 assay protocols.

Self-management needs, strategies and support for individuals with sickle cell disease in developing countries: a scoping review

IntroductionSickle cell disease (SCD) poses a significant global health burden, particularly affecting individuals in developing countries with constrained healthcare resources. While research on self-management in the context of SCD is...

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

Impact of oral health conditions on the quality of life of children and adolescents with sickle cell anemia: A cross-sectional study.

Sickle cell anemia (SCA) is the most common hemoglobinopathy in Brazil and worldwide and is part of a group of chronic genetic diseases resulting from abnormalities in the structure of hemoglobin. To evaluate the impact of oral health conditions on the quality of life (QoL) of children and adolescents with SCA. This is a cross-sectional study with a sample of 76 children and adolescents aged 8-14 years. For inclusion, they were required to have a diagnosis of HbSS SCA in their medical records, without a pain crisis or any dental emergency in the last three months. The children and adolescents with SCA were from Hematology and Hemotherapy Center of Maranhão. Demographic characteristics, socioeconomic status, oral hygiene, caries, malocclusion, and oral health-related quality of life (OHRQoL) were assessed. OHRQoL was assessed using the Child Perceptions Questionnaire. Descriptive statistics, Student's t and Mann-Whitney tests were performed (α = 5%). Brown race was the most prevalent for both age groups (8-10 years-63.2% and 11-14 years-57.9%). Predominant monthly family income for both age groups was below $106. Visible plaque and gingival bleeding were higher in children aged 8-10 years. Dental caries significantly impacted the QoL of adolescents through the domain "oral symptom" (p = .031). Malocclusion significantly impacted the QoL of adolescents ("total score," p = .026; "social well-being", p = .045). Oral health impairment negatively affected the QoL of adolescents with SCA.

Lactated Ringer vs Normal Saline Solution During Sickle Cell Vaso-Occlusive Episodes

Sickle cell disease (SCD), a clinically heterogenous genetic hemoglobinopathy, is characterized by painful vaso-occlusive episodes (VOEs) that can require hospitalization. Patients admitted with VOEs are often initially resuscitated with normal saline (NS) to improve concurrent hypovolemia, despite preclinical evidence that NS may promote erythrocyte sickling. The comparative effectiveness of alternative volume-expanding fluids (eg, lactated Ringer [LR]) for resuscitation during VOEs is unclear. To compare the effectiveness of LR to NS fluid resuscitation in patients with SCD and VOEs. This multicenter cohort study and target trial emulation included inpatient adults with SCD VOEs who received either LR or NS on hospital day 1. The Premier PINC AI database (2016-2022), a multicenter clinical database including approximately 25% of US hospitalizations was used. The analysis took place between October 6, 2023, and June 20, 2024. Receipt of LR (intervention) or NS (control) on hospital day 1. The primary outcome was hospital-free days (HFDs) by day 30. Targeted maximum likelihood estimation was used to calculate marginal effect estimates. Heterogeneity of treatment effect was explored in subgroups. A total of 55 574 patient encounters where LR (n = 3495) or NS (n = 52 079) was administered on hospital day 1 were included; the median (IQR) age was 30 (25-37) years. Patients who received LR had more HFDs compared with those who received NS (marginal mean difference, 0.4; 95% CI, 0.1-0.6 days). Patients who received LR also had shorter hospital lengths of stay (marginal mean difference, -0.4; 95% CI, -0.7 to -0.1 days) and lower risk of 30-day readmission (marginal risk difference, -5.8%; 95% CI, -9.8% to -1.8%). Differences in HFDs between LR and NS were heterogenous based on fluid volume received: among patients who received less than 2 L, there was no difference in LR vs NS; among those who received 2 or more L, LR was superior to NS. This cohort study found that, compared with NS, LR had a small but significant improvement in HFDs and secondary outcomes including 30-day readmission. These results suggest that, among patients with VOEs in whom clinicians plan to give volume resuscitation fluids on hospital admission, LR should be preferred over NS.

Generic sofosbuvir and daclatasvir for treatment of hepatitis C virus infection in patients with sickle cell disease

Background and purpose of the studySickle cell disease (SCD) patients are at a high risk of chronic liver disease (CLD) due to chronic viral hepatitis infection such as hepatitis C virus (HCV) infection, iron overload, and sickle cell hepatopathy. Nowadays, several oral direct-acting antiviral drugs (DAAs) have been developed and approved by the FDA for hepatitis C treatment. However, the safety and efficacy of DAAs in SCD patients remain insufficiently explored.Purpose of the studyTo evaluate the efficacy and safety of administration of generic sofosbuvir (SOF) and daclatasvir (DCV) for 12 weeks in SCD patients infected with HCV.MethodsA retrospective study included 38 SCD patients infected with HCV treated with generic SOF (400 mg) and DCV (60 mg) for 12 weeks without ribavirin. The effectiveness of the HCV treatment was assessed by the sustained virologic response (SVR) at 24 weeks after the end of the treatment (SVR24).ResultsThe SVR24 rate was 100% (38/38).There were insignificant alterations in hemoglobin and total bilirubin levels during HCV treatment or at end of treatment (EOT). The number of anemic patients who needed blood transfusion two weeks before HCV treatment, at week 4 of treatment, and at EOT was 11 (28.9%), 3 (8%), and 1 (3%) respectively. Moreover, the reductions in serum transaminase levels from baseline were statistically significant compared to the EOT.ConclusionGeneric SOF and DCV regimens appear to be safe and effective in the treatment of chronic HCV in patients with SCD.

SP1.7 - Cholecystectomy in Children: Tertiary Institutional Review of 10-years

Abstract Aim This study evaluates cholecystectomy necessity in pediatric patients with gallstones, correlating clinical symptoms, diagnostic imaging, histological findings, and postoperative outcomes. Method A decade-long (2013-2023) retrospective analysis at our tertiary Pediatric institution focused on patients aged 0-16 years undergoing cholecystectomy. Data from electronic patient records included demographics, preoperative symptoms, ultrasound findings, liver function tests, associated health conditions, surgical techniques, and postoperative developments. Results Our review encompassed 52 patients (35/52 females). Their ages ranged from 3 to 16 years (median = 13). Recurrent abdominal pain was the predominant symptom, reported in 49 patients. A minority (3 patients) were asymptomatic. 18 patients exhibited jaundice, while 5 cases each were associated with pancreatitis and cholecystitis, both clinically and biochemically. Comorbid conditions were identified in 24 patients, including sickle cell disease (15 cases), hereditary spherocytosis (6 cases), and metachromatic leukodystrophy (3 cases). Ultrasound findings revealed gallstones in 48 out of 52 patients, with the remaining 4 (3 metachromatic leukodystrophy) showing no stones. Histologically, cholecystitis was confirmed in 32 patients, but gallstones were only verified in 34 cases. Laparoscopic cholecystectomy was performed in 49 cases, and 13 of these also involved splenectomy. In 3 cases, laparoscopy was converted to open surgery due to splenectomy-related factors. During follow-up, 2 patients reported recurrent symptoms. One of these, initially diagnosed with chronic cholecystitis, was later found to have irritable bowel syndrome. Another patient required subsequent splenectomy. Conclusion Our study reveals a notable disparity between preoperative ultrasound findings and histological results. Nevertheless, cholecystectomy remains a safe and effective intervention in judiciously selected symptomatic paediatric patients, with most experiencing symptom resolution post-surgery.

Charting the Waters of Sickle Cell Disease With Target Trial Emulation

Charting the Waters of Sickle Cell Disease With Target Trial Emulation

The Application of Magnetic Resonance Imaging in the Early and Accurate Diagnosis of Hip Joint Avascular Necrosis.

Introduction Avascular necrosis (AVN) is characterized by the death (necrosis) of cellular bone components in the subchondral bone or epiphysis due to a lack of or an interruption of the blood supply. In routine practice, AVN is most frequently encountered in the femoral head. In this study, we aim to evaluate the application of magnetic resonance imaging (MRI) in the early and accurate diagnosis of hip joint AVN. Materials and methods This was a retrospective, cross-sectional study conducted in the Department of Radiodiagnosis of Dr. D. Y. Patil tertiary care hospital, Pimpri, Pune, India. We studied 30 patients with complaints of pain and associated limping who underwent primary radiograph analysis of the hip joint, followed by MRI. Results We assessed 30 patients (45 hip joints) using plain radiography and MRI. Of the 45 hips, we could diagnose AVN in 28 hips (62.2%) using plain radiography, but we could not diagnose it in 17 hips (37.8%), whereas we were able to diagnose AVN in all hips (100%) using MRI. Forty percent of the patients (n = 12) were on steroids, 26.7%(n = 8) were chronic alcoholics, and 16.7% (n = 5) were idiopathic. The other less common causes were a history of trauma or fracture of the neck of the femur (n = 3) and sickle cell disease (n = 2).Of the 45 hips of the 30 patients studied, 15 patients had bilateral disease affecting a total of 30 hips (66.7%), and 15 patients had unilateral disease affecting a total of 15 hips (33.4%). Of the 30 hips (bilateral disease), five (13.3%) contralateral hips were clinically occult and were incidentally diagnosed with AVN. Conclusion The assessment of AVN based solely on plain radiography can miss vital information in stages II and III (Ficat and Arlet classification). Due to its multiplanar capability, superior spatial resolution, and better tissue characterization, MRI is very sensitive and able to detect femoral head AVN early and promptly in cases that are radiograph-negative or otherwise clinically unsuspected.

The role of prophylactic transfusion on the maternal and fetal outcomes in pregnant women with sickle cell disease: A systematic review and meta-analysis.

In the present review, we aimed to synthesize evidence from studies on the safety and effectiveness of prophylactic blood transfusion in pregnant women with sickle cell disease. To gather relevant information, we conducted systematic electronic searches of databases such as SCOPUS, Medline via PubMed, Web of Science, and Cochrane Central Register of Controlled Trials. We included both retrospective and prospective studies that examined the impact of prophylactic blood transfusions during pregnancy. The collected data were analyzed using Review Manager, version 5.3. The review included 15 cohort studies. The overall findings indicated a preference for the prophylactic blood transfusion group over the control group across several key parameters. Specifically, the prophylactic group demonstrated lower rates of maternal mortality (odds ratio [OR] = 0.33; 95% confidence interval [CI] = 0.10-1.13; P = .08), reduced incidence of vaso-occlusive painful events (OR = 0.31; 95% CI = 0.14-0.73; P = .007), fewer pulmonary complications (OR = 0.21; 95% CI = 0.08-0.53; P = .001), decreased perinatal mortality (OR = 0.35; 95% CI = 0.17-0.75; P = .03), and lower likelihood of preterm birth (OR = 0.67; 95% CI = 0.47-0.96; P = .02). Notably, statistically significant heterogeneities were observed in the pooled effect estimates. The present meta-analysis indicated that prophylactic blood transfusion in pregnant women with sickle cell disease may improve maternal and fetal outcomes. However, substantial variations in the methodology and transfusion protocols among the included studies limited the credibility of the current evidence supporting the routine clinical use of prophylactic transfusion for SCD during pregnancy.

Global awareness of antigenic peptides - Unraveling the impact on sickle cell anemia patients in the presence of pathogens: A narrative review.

Sickle cell anemia (SCA) is a genetic blood disorder characterized by the production of abnormal hemoglobin S (HbS), leading to sickle-shaped red blood cells and various complications, including increased susceptibility to infections. The presence of antigenic peptides, short amino acid sequences derived from pathogens or altered self-proteins, plays a crucial role in immune responses. This review explores the global awareness of antigenic peptides, their role in immune responses in SCA patients, and the challenges and opportunities in managing infections within this vulnerable population. Antigenic peptides are central to the adaptive immune response, facilitating the recognition and elimination of pathogens by T-cells. In SCA, altered antigen presentation and impaired T-cell responses due to chronic inflammation, functional asplenia, and ongoing hemolysis contribute to increased susceptibility to infections. Pathogens such as Streptococcus pneumoniae and Haemophilus influenzae pose significant risks to SCA patients, highlighting the importance of robust immune responses mediated by antigenic peptides. Strategies such as vaccination and immunotherapy aim to enhance immune function by targeting specific antigenic peptides, thereby reducing infection rates and improving patient outcomes. Advances in genomics and proteomics offer insights into individual variations in antigen presentation and immune responses, guiding the development of tailored therapeutic interventions. Global collaborations are essential to address disparities in healthcare access and implement effective preventive measures, ensuring equitable outcomes for SCA patients worldwide.

Una diagnosi difficile da accettare

An 18-month-old girl presented with low weight. Her parents denied her sickle cell anaemia diagnosis, confirmed at birth and neglected in treatment. Social and legal intervention was needed to ensure disease management. The case emphasizes the importance of clear communication and parental cooperation, especially in case of the diagnosis of a chronic illness.