Search Results (63)

Sickle cell disease (SCD) is one of the most common inherited blood disorders worldwide. Clinical manifestations are variable, but include hyposplenism, renal impairment, cardiovascular disease, respiratory complications, and cerebrovascular disease. Frequent painful vaso-occlusive crises, hospitalisations, and other physical and psychological ramifications can have profound effects, including children missing school time resulting in impaired academic performance and adults missing work leading to employment loss. This narrative review examines the possible risks and benefits of exercise in the SCD population. Regular exercise plays an important role in improving physical and mental health, but fears around the potential consequences of exercise for the SCD population are present in children, their families, schools, and other organisations. This can result in children not taking part in as much regular exercise as their peers and being excluded from group activities. Studies have suggested that healthcare professionals often do not discuss the possible benefits of physical exercise with patients, likely because there are no guidelines regarding a safe level of activity. An acute increase in inflammation secondary to exercise could increase the risk of vaso-occlusive crises, but regular physical activity is known to play an important role in disrupting chronic inflammation across a wide range of pro-inflammatory diseases. Indeed, studies have demonstrated positive responses to exercise in the SCD population, from improvements in skeletal muscle microvasculature to performance in cardiovascular tests. It is important that recommendations are developed regarding types of exercise and the ideal amount of exercise for maximum benefit with minimum risk in SCD individuals. Full article

Background/Objectives: Acute chest syndrome (ACS) is a frequent and potentially life-threatening complication of sickle cell disease (SCD) that often develops during hospitalization for vaso-occlusive crisis (VOC). The early identification of pediatric patients at risk remains challenging, particularly in high-prevalence settings. This study aimed to identify predictors of acute chest syndrome following vaso-occlusive crisis in children with SCD. Methods: We conducted a retrospective cohort study of children and adolescents (≤18 years) with confirmed SCD admitted for VOC to Cayenne Hospital Center, French Guiana, between January 2014 and September 2024. ACS that occurred during hospitalization or within 7 days of admission was recorded. Multivariable logistic regression was used to identify independent predictors, and model performance was assessed using receiver operating characteristic (ROC) analysis. Results: Among the 825 VOC episodes in 190 patients, 239 (29%) were complicated by ACS. Independent ACS predictors were thoracic or abdominal pain at presentation (adjusted odds ratio [aOR] 14, 95% CI 6–32, p < 0.001), prior history of ACS (aOR 7.4, 95% CI 4.5–12.1), and Hb SS or Sβ⁰ genotype (aOR 1.8, 95% CI 1.2–2.4), age > 10 years (aOR 1.6, 95% CI 1.1–2.4), male sex (aOR 1.6, 95% CI 1.1–2.4), Hydroxyurea treatment was associated with a higher risk of acute chest syndrome (aOR 8.7, 95% CI 5.2–14.5), likely reflecting greater baseline disease severity among treated patients. The probability threshold maximizing the Youden index was 0.67, corresponding to a Youden index of 0.56. At this threshold, the model had a sensitivity of 61%, a specificity of 95%, a positive predictive value of 85%, and a negative predictive value of 86%. The apparent area under the receiver operating characteristic curve was 0.87 (95% CI, 0.83–0.89). The receiver operating characteristic analysis yielded an area under the curve of 0.87, indicating good apparent discrimination. Conclusions: These findings support targeted monitoring and early preventive strategies during pediatric VOC admissions. Full article

Background/Objectives: Sickle cell disease (SCD) is the most prevalent inherited pediatric hematologic disease. Pain is the most common complaint and primary reason for emergency care. Effective coping is critical to improved quality of life for individuals with SCD and other chronic illnesses. Hope, engendered by provision of comprehensive care, may explain the positive impact of effective coping and improved health outcomes. The relevance of effective coping skills and hope’s impact on repeated hospitalizations and/or length of hospitalization stay (LOS) among adolescents with SCD is considered. A regional, comprehensive pediatric sickle cell center (RCPSCC) provided the services. Methods: Patients with SCD, ages 13 through 21 years seen in a university RCPSCC (URCPCC-SCD), completed surveys: a general scale providing a broad range of positive and maladaptive coping-related issues, and KIDCOPE, a standardized scale measuring pediatric coping strategies. Medical records were reviewed for frequency of hospitalization and length of stay (LOS) for the eight months before study entry. Results: Thirty-four URCPCC-SCD outpatients, mean/median age of 16 years, entered the study, and data were analyzed for 33. All reported some sense of future hopefulness, and almost half reported feeling “tense or wound up” most of the time. Use of avoidant or negative coping strategies in response to daily stress correlated positively with increased LOS. Conclusions: Youths with SCD require effective coping strategies to improve self-efficacy and related hope for brighter futures. Individualized, comprehensive treatment and support to families and individuals at risk for sickle cell crisis are uniquely offered in a URCPCC-SCD. Their contributions to service delivery and clinical outcome are expected to enhance hope, mitigate prolonged hospitalizations, and improve adherence to treatment (N = 268). Full article

Background and Clinical Significance: Sickle cell vaso-occlusive crisis (VOC) may present with severe refractory pain that is difficult to control despite guideline-directed multimodal therapy and high-dose opioids. Case Presentation: We report an adult with VOC and severe, opioid-refractory anterior thigh and leg pain who was treated with bilateral, ultrasound-guided continuous femoral nerve catheters (0.5% bupivacaine bolus per side followed by infusion of 0.2% ropivacaine at 5 mL/h each). Twenty-four-hour opioid use decreased by 76% from 44 mg intravenous hydromorphone (880 MME) before block placement to 10.4 mg (208 MME) after catheter initiation. Pain scores declined significantly from 10/10 to 3/10, facilitating mobilization and expediting discharge of the patient. No local anesthetic systemic toxicity occurred, and transient quadriceps weakness was managed with fall-risk precautions. IRB approval for this case report was waived per our institution policy. Conclusions: In select adults with VOC and predominant anterior thigh/leg pain, bilateral continuous femoral nerve catheters may provide rapid analgesia and substantial opioid-sparing benefits as part of multidisciplinary care. These findings are hypothesis-generating and support prospective evaluation of continuous peripheral nerve block strategies in VOC. Full article

Background/Objectives: Non-typhoidal Salmonella (NTS) species are well-recognized causes of invasive infection in patients with sickle cell disease (SCD), with a particular predilection for the musculoskeletal system. Although Salmonella osteomyelitis is well described in this population, septic arthritis is uncommon, especially involving the shoulder joint. We describe a case of NTS bacteremia complicated by native shoulder septic arthritis in a patient with SCD and review its clinical implications. Methods: We report the clinical course, diagnostic evaluation, microbiologic findings, imaging studies, and management of a 22-year-old man with homozygous SCD who presented with a vaso-occlusive pain crisis and subsequently developed severe sepsis with persistent Salmonella enterica bacteremia following ingestion of undercooked poultry. Persistent bacteremia prompted further evaluation for metastatic infection using advanced imaging and diagnostic arthrocentesis. Results: Whole-body imaging identified septic arthritis of the native right shoulder, which was confirmed by synovial fluid cultures growing Salmonella species. The patient underwent arthroscopic irrigation and debridement for source control. Antimicrobial therapy was narrowed to intravenous ceftriaxone based on susceptibility data and continued for six weeks. The patient demonstrated clinical improvement with resolution of bacteremia and was discharged to rehabilitation to complete therapy. Conclusions: This case highlights the importance of a careful exposure history, including foodborne sources, in patients with SCD presenting with invasive Salmonella infection. Persistent bacteremia should prompt early investigation for metastatic foci, and timely surgical source control combined with targeted antimicrobial therapy is essential for optimal outcomes in this population. Full article

(1) Background: In Saudi Arabia, a high-income country with a publicly funded healthcare system, sickle cell disease (SCD) remains a major pediatric health challenge. This study aimed to identify factors associated with healthcare utilization, specifically inpatient (IP), outpatient (OP), and emergency department (ED) visits, among children with SCD in Saudi Arabia. (2) Methods: A retrospective observational study was conducted using data from the KAIMRC registry (2015-2023), including 450 children under 12 years old diagnosed with SCD. Negative binomial regression models were employed to analyze the annual average visits, accounting for clinical, demographic, and regional healthcare resource variables. (3) Results: Key predictors of IP visits included complication count, crisis episodes, and region (eastern, western, and southern regions had higher utilization than central). ED visits were positively associated with complications, crisis episodes, and hydroxyurea use, but negatively associated with bone marrow transplant receipt. OP visits increased with higher Charlson Comorbidity Index scores, age, and bone marrow transplant, but were lower in the eastern region. (4) Conclusions: These findings highlight the influence of clinical and regional factors even within an equitable, high-resource healthcare system. Full article

Background: Kidney transplantation activity at the University Hospital of Guadeloupe was briefly interrupted at the onset of the COVID-19 pandemic, reflecting the global impact of this health crisis on organ transplantation. This study assessed patient and graft recovery in 335 recipients transplanted between 2013 and 2023, comparing those transplanted before 2020 and after the resumption of activity. The objective was to evaluate changes in recipient profiles, surgical parameters, and post-transplant outcomes following this disruption. Methods: This retrospective cohort included all kidney transplants performed at the University Hospital of Guadeloupe over a ten-year period. Most patients (70%) received transplants before 2020, with 30% afterward. All grafts were ABO-compatible, and 98.2% were from deceased donors. Trends in transplant activity were analyzed to identify variations over time, with a peak observed in 2018, followed by a decline until 2021 and a progressive recovery from 2022. Comparative analyses were performed to examine disparities in donor and recipient characteristics, ischemia durations, and outcomes between the two periods. Results: After 2020, recipients were more likely to be elderly (≥70 years), immunized, obese, have heterozygous sickle cell disease, or have polycystic kidney disease (p < 0.05). Mean cold ischemia time decreased (p = 0.009), while warm ischemia time increased (p < 0.001), reflecting procedural and logistical adaptations. Graft survival remained stable, with 97.5% at 6 months and 89.8% at 4 years for transplants before 2020, versus 100% and 96.9%, respectively, after 2020 (p = 0.160). Patient survival did not differ significantly between periods (p = 0.199). Independent factors associated with mortality included recipient age ≥ 60 years, diabetes, graft failure, transplantation before 2020, cold ischemia time ≥ 1200 min, and graft pyelonephritis. Conclusions: Despite the temporary suspension of activity and an increased proportion of transplants with expanded criteria after 2020, graft recovery and patient survival were not adversely affected. These findings suggest that kidney transplantation in Guadeloupe demonstrated strong resilience and capacity for adaptation during and after the COVID-19 crisis, maintaining outcomes comparable to the pre-pandemic period. Full article

Sickle cell disease (SCD) is a common genetic disorder affecting up to 2.6% of the population in Saudi Arabia. SCD results in severe disability, reduced quality of life, extensive use of medical resources, increased economic burden, and a high likelihood of increased mortality. Red blood cell transfusion remains a cornerstone in the management of SCD complications. This position paper highlights the current state of SCD management within the Kingdom of Saudi Arabia. Despite the advantages of automated red blood cell exchange (aRBCX) and guideline recommendations, its use remains limited. In practice, aRBCX is used for a variety of indications, including acute management and prophylaxis of stroke, systemic fat embolism, severe forms of acute chest syndrome, preoperative management, hematopoietic stem cell transplantation, hepatic crisis, and priapism. However, aRBCX is underutilized in pregnancy. Common gaps identified by the advisory panel include the absence of standardized national guidelines, limited access to aRBCX, issues with vascular access, lack of equipment, and insufficient staff training. Another limitation to the use of aRBCX is the higher blood requirements compared to other blood transfusion modalities. These factors contribute to geographical disparities in the management of SCD and suboptimal patient outcomes. To address these issues, the advisory panel recommended developing and implementing evidence-based national guidelines, expanding access to aRBCX, enhancing health staff education and training, and establishing a robust national SCD registry. By prioritizing these recommendations, we can help streamline SCD care, reduce practice variation, and nationalize sickle cell disease management in Saudi Arabia to improve patient care. Full article

Background/Objectives: This study aimed to estimate the proportion of pediatric emergency admissions related to sickle cell disease. Methods: This is a cross-sectional study. The data were collected over a period of 9 years, from 1 January 2014 to 31 December 2022. Results: We recorded 858 emergency department visits related to sickle cell disease out of a total of 135,000 pediatric emergency department visits, giving a prevalence of 6.4 per 1000 children aged up to 18 years. The median age was 12 years (8–16) years. The average waiting time in the emergency department for children with sickle cell disease was 2 h (±1) in 2014 and 45 min (±15) in 2022. Children with sickle cell anemia were more likely than others to have been seen by a consultant in an emergency department. The most commonly associated pathology was asthma, with a frequency of 17%. The risk factors for hospitalization were an age between 5 and 10 years and a severe form of sickle cell disease. Conclusions: The treatment of pain and fever were often delayed. This leads us to suggest that systematic prior communication between the pediatric hematologist and the emergency physician is crucial. However, there is a need to define best practices for the management of children with sickle cell disease presenting to the emergency department with a fever. Full article

Background: Sickle cell disease (SCD) is a rare autosomal recessive disorder that is common in countries with consanguineous marriages. It leads to various complications, including painful episodes, infections, delayed growth, stroke, and organ damage, which contribute to high healthcare utilization and costs. In Saudi Arabia, the prevalence of SCD is notably high, largely due to the frequency of consanguineous marriages. However, there has not yet been a study estimating the direct medical costs of managing SCD based on real-world data. This study aims to assess these costs in Saudi Arabia. Methods: Data were collected from electronic medical records (EMRs) at a university-affiliated tertiary care center. A micro-costing approach was used to estimate the direct medical costs (e.g., laboratory tests, imaging, emergency department visits, hospitalizations, prescription medications, outpatient visits, etc.) retrospectively over a 12-month follow-up period. The baseline characteristics of the patients were presented using frequencies and percentages. The costs of different healthcare services were analyzed using means and the 95% confidence intervals. A generalized linear model (GLM) with a gamma distribution was utilized to examine the association between the overall costs and patient characteristics (e.g., age, gender, duration of illness, surgeries, blood transfusions, etc.), allowing for the estimation of the adjusted mean costs. Results: A total of 100 patients met the inclusion criteria and were included in the analysis. The mean age of the patients was 10.21 years (±6.87 years); 53% were male, and a substantial majority (96%) had the HbSS genotype. Sixty-one percent of the patients had undergone at least one red blood cell (RBC) exchange transfusion, while 21% had undergone surgical procedures, including tonsillectomy, splenectomy, and cholecystectomy. Additionally, 45% had experienced at least one vaso-occlusive crisis (VOC), and 59% had been hospitalized at least once in the past 12 months. Factors such as the frequency of laboratory tests and imaging studies, the length of hospital stay (LOS), the rate of emergency department (ED) visits, surgical procedures, the number of prescription medications, and the frequency of blood transfusions were all significant predictors of higher direct medical costs (p < 0.05). The estimated mean annual direct medical costs per patient were USD 26,626.45 (95% CI: USD 22,716.89–USD 30,536.00). After adjusting for various factors, including age, gender, duration of illness, frequency of lab and imaging tests, LOS, ED visits, surgical procedures, number of prescription medications, rates of VOCs, and RBC exchange transfusions, the adjusted mean annual direct medical cost per patient was calculated to be USD 14,604.72 (95% CI: USD 10,943.49–USD 19,525.96). Conclusions: The results of this study emphasize the substantial direct medical costs linked to sickle cell disease (SCD), which are greatly affected by the frequency of related complications. These insights should motivate policymakers and healthcare researchers to assess both the national direct and indirect costs associated with SCD, especially given the significant number of SCD patients in Saudi Arabia. Full article

Acute cardiovascular disorders are incriminated in up to 33% of maternal deaths, and the presence of sickle cell anemia (SCA) aggravates the risk of peripartum complications. Herein, we present a 24-year-old Caribbean woman with known SCA who developed a vaso-occlusive crisis at 36 weeks of gestation that required emergency Cesarean section. In the early postpartum period, she experienced fever with rapid onset of acute respiratory distress in the context of COVID-19 infection that required tracheal intubation and mechanical ventilatory support with broad-spectrum antibiotics and blood exchange transfusion. Shortly thereafter, transthoracic echocardiography documented severe biventricular dysfunction associated with raising levels of cardiac troponin and ECG signs of myocardial ischemia. Medical treatment with incremental dobutamine and noradrenaline infusion failed to improve cardiac output and blood gas exchange. After consultation with the regional cardiac center, a prompt decision was made to provide cardiac and respiratory support via implantation of femoral cannula and initiation of veno-arterial extracorporeal membrane oxygenation (ECMO, Cardiohelp^®). Under stable ECMO, the patient was transferred by helicopter to a specialized cardiac center. There were no signs of ongoing hemolysis, and progressive recovery of the right and left ventricular function facilitated forward blood flow through the aortic valve. Three days after implantation, ECMO was weaned, and the cannula were removed. One day later, the patient’s chest X-rays showed partial resolution of lung edema. The patient was successfully extubated, and non-invasive ventilation with pulmonary rehabilitation was initiated to speed up her functional recovery. Full article

Hematological emergencies are critical medical conditions that require immediate attention due to their rapid progression and life-threatening nature. As various examples, hypercalcemia, often associated with cancers such as multiple myeloma, can lead to severe neurological and cardiac dysfunction. Hyperleukocytosis, common in acute myeloid leukemias, increases the risk of leukostasis and multiorgan failure. Sickle cell crisis, a common complication in sickle cell disease, results from vaso-occlusion, leading to acute pain and tissue ischemia. Tumor lysis syndrome, reported in cases of rapid destruction of cancer cells, causes electrolyte imbalances and acute kidney injury. Acute transfusion reactions, fundamental in hematological conditions, can range from mild allergic responses to severe hemolysis and shock, requiring prompt management. Disseminated intravascular coagulation, involving excessive coagulation and bleeding, is commonly triggered by hematological malignancies, common in the first phases of acute promyelocytic leukemia. Recently, in the era of bispecific antibodies and chimeric antigen receptor T cells, cytokine release syndrome is a manifestation that must be recognized and promptly treated. Understanding the pathophysiology, recognizing the clinical manifestations, and ensuring adequate diagnostic strategies and management approaches for each condition are central to early intervention in improving patient outcomes and reducing mortality. Full article

Background and Clinical Significance: A brain abscess, defined as a localized intracranial infection that evolves into a purulent collection encased by a vascularized capsule, has higher prevalence among immunocompromised populations. Patients with sickle cell disease (SCD) are particularly vulnerable to bacterial infections due to their compromised immune systems, increasing their susceptibility to pathogens like Salmonella. While Salmonella is typically associated with gastroenteritis, osteomyelitis, and septicemia, its involvement in brain abscesses is exceedingly rare. There are few documented cases of Salmonella brain abscesses in the general population, and among patients with SCD, only one such case has been reported to date. In this report, we describe the second known case of a brain abscess caused by Salmonella infection in a patient with sickle cell disease, contributing to the limited literature on this rare and life-threatening condition. Case Presentation: A 32-year-old African American woman with sickle cell disease presented to the ER after a generalized seizure, reporting two weeks of worsening headaches, fevers, and left upper extremity weakness. Imaging revealed a right frontoparietal brain abscess, which was surgically drained, and cultures identified Salmonella enterica. After antibiotic treatment and a 23-day hospital stay, she was discharged. Four months later, she returned with another seizure during a sickle cell crisis, but follow-up MRI showed only minor scarring, and she was discharged on anticonvulsant therapy. Conclusions: This case emphasizes that Salmonella infections, though typically linked to osteomyelitis and sepsis, can also cause brain abscesses in immunocompromised patients like those with sickle cell disease. It highlights the need to consider infections alongside vascular causes in acute neurological cases and underscores the value of a multidisciplinary approach in managing such complex conditions. Full article

In 2015, Catalonia introduced sickle cell disease (SCD) screening in its newborn screening (NBS) program along with standard-of-care treatments like penicillin, hydroxyurea, and anti-pneumococcal vaccination. Few studies have assessed the clinical impact of introducing NBS programs on SCD patients. We analyzed the incidence of SCD and related hemoglobinopathies in Catalonia and the change in clinical events occurring after introducing NBS. Screening 506,996 newborns from 2015 to 2022, we conducted a retrospective multicenter study including 100 screened (SG) and 95 unscreened (UG) SCD patients and analyzed SCD-related clinical events over the first six years of life. We diagnosed 160 cases of SCD, with an incidence of 1 in 3169 newborns. The SG had a significantly lower median age at diagnosis (0.1 y vs. 1.68 y, p < 0.0001), and initiated penicillin prophylaxis (0.12 y vs. 1.86 y, p < 0.0001) and hydroxyurea treatment earlier (1.42 y vs. 4.5 y, p < 0.0001). The SG experienced fewer median SCD-related clinical events (vaso-occlusive crisis, acute chest syndrome, infections of probable bacterial origin, acute anemia requiring transfusion, acute splenic sequestration, and pathological transcranial Doppler echography) per year of follow-up (0.19 vs. 0.77, p < 0.0001), a reduced number of annual emergency department visits (0.37 vs. 0.76, p < 0.0001), and fewer hospitalizations (0.33 vs. 0.72, p < 0.0001). SCD screening in Catalonia’s NBS program has effectively reduced morbidity and improved affected children’s quality of life. Full article

Background and Objectives: In sickle cell disease (SCD), hepatopathy is a cumulative consequence of ischemia/reperfusion (I/R) injury from a vaso-occlusive crisis, tissue inflammation, and iron overload due to blood transfusion. Hepatopathy is a major contributing factor of shortened life span in SCD patients. We hypothesized that the voxelotor, a hemoglobin allosteric modifier, ameliorates sickle hepatopathy. Materials and Methods: Townes SCD mice and their controls were treated with either chow containing GBT1118, a voxelotor analog, or normal chow. We evaluated inflammation, fibrosis, apoptosis and ferroptosis in their livers using qPCR, ELISA, histology, and immunohistochemistry. Results: GBT1118 treatment resulted in reduced hemolysis, iron overload and inflammation in the liver of SCD mice. There were significant reductions in the liver enzyme levels and bile acids. Furthermore, GBT1118-treated mice exhibited reduced apoptosis, necrosis, and fibrosis. Increased ferroptosis as evident from elevated 4-hydroxynonenal (4-HNE) staining, malondialdehyde (MDA) levels, and expression of Ptgs2 and Slc7a11 mRNAs, were also significantly reduced after GBT1118 treatment. To explain the increased ferroptosis, we evaluated iron homeostasis markers in livers. SCD mice showed decreased expression of heme oxygenase-1, ferritin, hepcidin, and ferroportin mRNA levels. GBT1118 treatment significantly increased expressions of these genes. Conclusions: Our results suggest GBT1118 treatment in SCD confers the amelioration of sickle hepatopathy by reducing inflammation, fibrosis, apoptosis, iron overload and ferroptosis. Full article