Sickle Cell Disease Patients Research Articles

Prevalence and predictors of Sickle Cell Nephropathy A single-center experience.

Sickle cell disease (SCD) is the most common monogenic disorder in Saudi Arabia, which associates with an increased risk of organs damage, including the kidney. The aim of this study is to investigate the prevalence and predictors of sickle cell nephropathy (SCN) in the Saudi population. A retrospective study was conducted from April to October 2023, and included 343 adult patients with SCD who were recruited from the hereditary blood diseases center (HBDC), Al-Ahsa, Saudi Arabia. Spot protein-to-creatinine ratio was measured and glomerular filtration rate (GFR) was estimated from serum creatinine using the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation. As per KIDGO guidelines, CKD was diagnosed in 93 (27.1%) patients. Based on the CKD-EPI equation, 2% of patients had low GFR (eGFR < 60mL/min), 28.3% had high GFR (eGFR > 140 mL/min), and 69.7% had normal GFR. Among SCD patients, proteinuria was observed in 26.5% of the patients. SCD patients with CKD were significantly older than non-CKD patients (p < 0.001) and had higher prevalence of diabetes mellitus (DM) and hypertension (HTN) (p = 0.045 and 0.001 respectively). The multivariate analysis showed that age (P = 0.001; OR 1.035; 95% CI 1.014-1.056) and low hemoglobin level (p = 0.034; OR -0.851; 95% CI 0.721-0.980) were independent risk factors for the development of SCN. Nephropathy is a common complication among patients with SCD as early as the third decade of life, although they remain asymptomatic. Advances in age and low hemoglobin levels are the main predictors of nephropathy. In addition, SCD patients with coexistent comorbidities, particularly DM and HTN, were at increased risk of developing kidney disease.

Cerebral vascular shunting and oxygen metabolism in sickle cell disease.

Patients with sickle cell disease (SCD) are at elevated risk of silent cerebral infarcts and strokes; however, they frequently lack established stroke risk factors (e.g., macrovascular arterial steno-occlusion) and as such the mechanisms underlying such events are incompletely characterized. This study evaluated cerebral metabolism with respect to imaging markers of vascular shunting in 143 SCD participants, including 73 pediatric (6-17 years) and 70 adult (18-40 years) participants. Participants completed clinical and cerebral imaging assessments using 3-Tesla brain MRI to quantify cerebral hemo-metabolic measures. Vascular shunting was assessed in each patient using a previously published ordinal venous hyperintensity score (VHS=0, 1, or 2) on cerebral blood flow-weighted MRI. Relationships between age group (pediatric versus adults) and hemo-metabolic measures for varying VHS were investigated using two-way ANOVA. Participants with VHS=2, indicative of the most rapid arterio-venous transit, had significantly reduced blood oxygen content (CaO2=10.90±1.69 ml O2/100ml blood), oxygen extraction fraction (OEF=33.52±5.54%), and cerebral metabolic rate of oxygen consumption (CMRO2=2.91±0.69 ml O2/100g tissue/min) compared to their counterparts with VHS=0 (CaO2=12.42±1.58 ml O2/100ml blood; OEF=39.03±3.80%; CMRO2=3.77±0.84 ml O2/100g tissue/min) or VHS=1 (CaO2=11.86±1.73 ml O2/100ml blood; OEF=36.37±5.11%; CMRO2=3.59±0.78 ml O2/100g tissue/min). Both pediatric and adult SCD patients presenting with greater imaging evidence of vascular shunting had mildly reduced OEF and CMRO2. These findings highlight that imaging markers of vascular shunting are associated with significant, albeit mild, evidence of reduced OEF and CMRO2 in patients with SCD.

Adolescents and young adults with sickle cell disease exhibit accelerated aging with elevated T-cell p16INK4a expression.

People living with sickle cell disease (SCD) experience complications indicative of an accelerated aging phenotype typified by early decline in physical function and increased risk for age-related conditions. Cellular senescence, measured by expression of p16INK4a in peripheral T-lymphocytes, is recognized as one of the underlying contributors to organismal aging. To examine if cellular senescence is increased in SCD patients, we cross-sectionally measured and compared expression of p16 mRNA in peripheral blood T lymphocytes in 18 adolescents and young adults with SCD to 27 similarly aged individuals without SCD. Expression of p16 was dramatically higher in individuals with SCD vs. without SCD (10.1 vs. 8.7 log2 p16 units, respectively, p < 0.001) - a gap of 43 years in biological age - consistent with accelerated aging in the SCD population. Race was not associated with the increased p16 expression in the SCD group. These initial results suggest that individuals with SCD have a significantly higher cellular senescence burden which may contribute to premature aging, physiological decline, and excess morbidities. Additional longitudinal assessment and consideration for trials of senolytic therapies among individuals living with SCD and high p16 expression are warranted to improve their health span.

Managing emotional and physical stress in sickle cell anemia: a review of effective strategies and approaches

Sickle cell anemia (SCA) is a genetic blood disorder characterized by recurrent pain episodes, chronic complications, and significant emotional and physical stress. This review article explores effective strategies for managing both the emotional and physical aspects of stress in SCA patients. A comprehensive literature search was conducted across multiple databases, including PubMed, Scopus, and Google Scholar, using keywords such as “sickle cell anemia,” “stress management,” “psychological support,” and “pain management.” Emotional stress in SCA arises from chronic pain, frequent hospitalizations, and disease uncertainty, leading to conditions such as anxiety and depression. Effective management of emotional stress involves a combination of psychological counseling, cognitive-behavioral therapy (CBT), and support groups, which help patients develop coping strategies and address the mental health challenges of living with a chronic illness. This review evaluates various psychological interventions and their impact on patient outcomes, emphasizing the need for integrated mental health support in the management of SCA. Physical stress in SCA is primarily due to acute vaso-occlusive crises and chronic pain, which require effective pain management and preventive measures. The review explores pharmacological treatments, such as opioids and hydroxyurea, as well as non-pharmacological approaches, including physical therapy and lifestyle modifications. Additionally, the article discusses innovative therapies like gene therapy and stem cell transplantation, which hold promise for long-term disease management.

Exploring machine learning algorithms in sickle cell disease patient data: A systematic review.

This systematic review explores the application of machine learning (ML) algorithms in sickle cell disease (SCD), focusing on diagnosis and several clinical characteristics, such as early detection of organ failure, identification of drug dosage, and classification of pain intensity. A comprehensive analysis of recent studies reveals promising results in using ML techniques for diagnosing and monitoring SCD. The review covers various ML algorithms, including Multilayer Perceptron, Support Vector Machine, Random Forest, Logistic Regression, Long short-term memory, Extreme Learning Machines, Convolutional Neural Networks, and Transfer Learning methods. Despite significant advances, challenges such as limited dataset sizes, interpretability concerns, and risks of overfitting are identified in studies. Future research directions entail addressing these limitations by harnessing larger and more representative datasets, enhancing model interpretability, and exploring advanced ML techniques like deep learning. Overall, this review underscores the transformative potential of ML in increasing the diagnosis, monitoring and define prognosis of sickle cell disease while also highlighting the need for further investigation in the field.

Determination of the Level of von Willebrand Factor, ADAMTS13, and Ratio of ADAMTS13:von Willebrand Factor in Sickle Cell Disease Patients.

Sickle cell anemia (SCA) is a hypercoagulable state characterized by a significant alteration in hemostatic parameters which may predispose an increased risk of vaso-occlusive crisis (VOC). Sickle cell disease (SCD) is the most common genetic disorder in sub-Saharan Africa. Nigeria bears a high disease burden with an estimated prevalence of 1%-3% of its population being affected by the disease. The study seeks to determine the role of von Willebrand factor (VWF), ADAMTS13, and the ratio of ADAMTS13:VWF antigen in the pathogenesis of VOC. The objective of this study is to evaluate the level of VWF, ADAMTS13, and their ratio in SCD subjects in Calabar and to determine their role in the pathogenesis of VOC. This is a comparative study carried out at the University of Calabar Teaching Hospital (UCTH), Calabar. Sixty SCA patients were evaluated in VOC and steady states as well as five parented healthy controls. VWF: Ag and ADAMTS13:Ag were evaluated using Assaypro enzyme-linked immunosorbent assay kits with Lot nos. 01751728 and 04222167R, respectively. Data were analyzed by IBM SPSS Chicago software version 21. The study was approved by the UCTH Institution Ethical Review Board. The mean ages of the SCA subjects and controls were 23.5 ± 7.2 years and 26.5 ± 5.6 years, respectively (P = 0.706). There were 23 (38.3%) males in the SCA group and 21 (42.0%) females in the controls. There was no significant difference in their sex distribution (P = 0.063). The mean (standard deviation [SD]) of VWF in VOC, steady state, and controls were 2.52 ± 0.34, 1.34 ± 0.23, and 1.41 ± 0.23 IU/mL, respectively. The differences in mean were significantly higher in VOC state (P = 0.003). The mean ± SD of ADAMTS13 in VOC, steady state, and controls were 0.61 ± 0.10, 0.44 ± 0.06, and 0.62 ± 0.10 μg/L, respectively. ADAMTS13 levels did not differ significantly across the groups (P = 0.270). Similarly, there was no significant difference between ADAMTS13:VWF ratios across the groups (P = 0.318). VWF level is elevated in VOC state and thus may be implicated in the pathogenesis of VOC. ADAMTS13 and the ratio of ADAMTS13:VWF are not significantly affected in VOC.

Associations of haematological and inflammatory biomarkers with brain volume in patients with sickle cell anaemia: A cross-sectional retrospective study.

Sickle cell disease is a genetic disorder characterised by abnormal haemoglobin production. This study aims to investigate the associations between haematological and inflammatory biomarkers and brain volumes in patients with sickle cell anaemia and compare brain structure between patients with sickle cell anaemia and healthy controls. This retrospective cross-sectional study included 130 participants (70 sickle cell anaemia patients and 60 healthy controls) who underwent brain MRI examinations at King Fahad Central Hospital between January 2010 and October 2022. Demographic data and haematological and inflammatory biomarkers were collected to examine their relationships with brain volumes. Brain volumes were measured using FreeSurfer. Specific haematological and inflammatory biomarkers were correlated with brain volume in patients with sickle cell anaemia, p < 0.05. Sickle cell anaemia patients exhibited smaller volumes in the brainstem, corpus callosum and amygdala compared to healthy controls. Males had significantly higher iron levels (p < 0.001) and larger various brain structure volumes (p < 0.05) than females. This study demonstrates significant associations between specific biomarkers and brain volume in sickle cell anaemia patients, underscoring the importance of monitoring these biomarkers for early detection and management of neurological complications in sickle cell anaemia.

Association of Clinical and Paraclinical Factors with Pain Crisis Severity in Sickle-Thalassemia Patients in Iran

Objectives: This study aimed to evaluate the effects of several factors, including hospitalization frequency, inflammatory and hemolytic markers, and the numbers of blood transfusions and crises, on the severity of pain crises in sickle-thalassemia patients. Methods: Of all patients visiting hematologists in university-affiliated hospitals and clinics, only 75 sickle cell disease (SCD) and sickle-thalassemia patients met the inclusion criteria for this study. Disease severity was measured based on pain crises per year and laboratory markers, including hemolytic and inflammatory indicators, outpatient or inpatient status, the number of hospital admissions, and the number of blood units transfused over one year. Results: In sickle cell patients, a significant correlation was observed between hospital admission and WBC (0.01), ALP (0.001), MCHC (0.001), ferritin (0.021), and ESR (0.006). Additionally, pain crises were positively correlated with transferrin saturation (TS) (+0.28) and the number of transfused blood units (+0.49) and negatively correlated with Hb (-0.30) and total iron binding capacity (TIBC) (-0.23). Blood unit transfusions showed a positive correlation with serum iron (+0.44), RDW (+0.36), ferritin (+0.39), pain crises (+0.49), and TS (+0.49), along with a negative correlation with Hb (-0.75) and MCHC (-0.33). When categorizing pain crises into two groups, patients experiencing more frequent crises generally exhibited lower hemoglobin levels and a higher number of blood units transfused. Hemoglobin also showed a significant negative correlation with lactate dehydrogenase (LDH) level in both groups: -0.604 (P = 0.005) in patients with ≥ 3 crises per year and -0.368 (P = 0.006) in patients with &lt; 3 crises per year. Patients with hemoglobin levels of 7.5 or higher tended to maintain an LDH level below 1000. Among patients referred with pain crises, hemoglobin was negatively correlated with hemolytic markers such as LDH (-0.41) and retic (-0.29). Conclusions: Hemoglobin and LDH can serve as follow-up markers, as they are routinely measured in all sickle cell patients and, in this study, hemoglobin levels of 7.5 or higher and LDH levels below 1000 were associated with fewer and less severe pain crises. Regular monitoring of hemolytic markers may help in pain crisis prevention, as this study found that hemolytic crises frequently coincided with pain crises. Further research is needed to provide conclusive evidence in this area.

Sickle cell disease in India: Not just a mild condition.

Sickle cell disease (SCD) is a common and life-threatening global health problem, with more than 500 000 affected infants born annually. The burden of SCD in sub-Saharan Africa is well established, but the comparably high prevalence in India is not well recognized and many consider SCD in India to be less severe. In their paper, a national study in India demonstrated the significant impact of SCD for patients, families and the healthcare system, supporting a call to action to recognize and address SCD as a serious and common health condition in India. Commentary on: Seth etal. Burden of vaso-occlusive crisis, its management, and impact on quality of life of Indian sickle cell disease patients. Br J Haematol 2024 (Online ahead of print). doi: 10.1111/bjh.19829.

Analysis of Iron Status in Sickle Cell Disease Patients During Steady State at the Center de Recherche et de Lutte contre la Drépanocytose (CRLD) Bamako.

Sickle cell disease (SCD) is a prevalent inherited blood disorder arising from a single point mutation that results in substitution of valine with glutamic acid in the Beta hemoglobin chain, making red blood cells assume a banana shape under low oxygen state. It is most prevalent in sub-Saharan Africa, affecting approximately 2% of the population in Mali. This study aimed to evaluate the iron status and associated hematological parameters in SCD patients at steady state in an environment with a high prevalence of iron deficiency. A cross-sectional study was conducted at the Center de Recherche et de Lutte contre la Drépanocytose (CRLD) in Bamako, Mali, involving 757 SCD patients aged 10 to 29 years. Iron deficiency was defined as serum ferritin < 20 ng/mL, while iron overload was associated with serum ferritin > 500 ng/mL. The study population consisted of 171 (22.6%) hemolytic phenotypes (SS and Sβ0) and 586 (77.4%) viscous phenotypes (SC and Sβ+). Iron deficiency was found in 19 SCD patients (2.5%), with a higher prevalence in the SC phenotype (68.4%). All iron-deficient subjects exhibited microcytosis (MCV < 80 fL) and hypochromia (MCH < 26 pg). Hemoglobin levels < 12 g/dL were observed only in homozygous SCD patients. Low reticulocyte counts were noted in iron-deficient subjects with SC and Sβ+ phenotypes, but not in iron-deficient SS subjects. Serum C-reactive protein (CRP) was normal (< 10 mg/L) in all iron-deficient subjects, excluding iron deficiency due to chronic inflammation. Iron deficiency was observed among 2.5% of the study population, with a predominant occurrence among those with SC phenotype. All iron deficient subjects had microcytosis and hypochromia. Hemoglobin levels below 12 g/dL were only found in homozygous SCD patients. Additionally, low reticulocyte counts were noted in iron deficient patients with SC and Sβ+ phenotypes, though not in those with the SS phenotype. These findings contribute to the understanding of iron status in SCD patients in an African context and highlights the importance of monitoring iron levels in these population to prevent complications associated with iron deficiency or overload.

Effect of ABO Mismatch and RBC Alloimmunization on the Outcome of Hematopoietic Cell Transplantation for Sickle Cell Disease

BackgroundHematopoietic cell transplantation (HCT) remains the only well-established curative option for sickle cell disease (SCD) patients. Nonmyeloablative (NMA) conditioning has been used to improve the outcomes and reduce toxicities in adult SCD patients. However, Recipient/Donor (R/D) ABO incompatibility and alloimmunization could be significant impediments to successful outcomes when transplanting SCD patients due to risks of hemolysis, delayed engraftment, poor graft function and graft failure (GF). Herein, we report our experience with allogeneic HSCT for SCD and the effects of RBC groups mismatch and alloimmunization on the outcome of transplanted patients. MethodsWe conducted a retrospective analysis of all SCD patients (age >14 year) that underwent HSCT from January 2015 to February 2022 at our center. All patients received Intravenous alemtuzumab (1 mg/kg divided over 5 days on days -7 to -3) and 300 cGy TBI on day -2 or -1 for conditioning. Pre-transplant preparation consisted of hydroxyurea at maximum tolerated dose for 2-3 months and one session of exchange transfusion. Peripherally mobilized CD34 stem cells targeting 10 × 106 /kg of recipient weight were used. For graft versus host disease (GVHD) prophylaxis sirolimus was started on day -1 and continued for one year with tapering if lymphoid chimerism was > 50%. For Patients with major ABO incompatibility, we administered 2 doses of rituximab (375 mg/m2) and 3 sessions of plasmapheresis before starting the conditioning regimen targeting an isoheamagglutinin titer < 1/32. The primary objective was to determine the impact of RBC groups mismatch and alloimmunization on the outcome of transplanted patients. The secondary objective was to assess the impact of GF on overall survival (OS). Logistic regression was done to evaluate predictors for GF. Kaplan-Meier method was used for survival analysis. ResultsA total of 194 patients were included with a median age of 26 years. The median baseline Hgb and HbS were 93 g/L and 71.3%, respectively. Indications of stem cell transplantations were most commonly due to recurrent vaso-occlusive crisis in 52.5% of patients, CNS events in 19.6%, and acute chest syndrome in 17%. After a median follow up of 28.8 months (5-83), sixteen patients (8%) experienced graft failure (3 with primary GF and 13 with secondary GF). On univariate analysis, ABO minor incompatibility and RBC alloantibodies against donor non-ABO antigens were predictive for GF.On multivariate analysis RBC alloantibodies against donor non-ABO antigens (OR, 8.29; 95% CI, 2.01 to 34.05, P=0.0033) was the only factor predictive of GF. None of the 16 patients with major ABO incompatibility developed GF. Two-years OS for all patients was 95%. The 2 years OS for patients without GF was 98% compared to 74% in patients with GF, (P<0.0001). ConclusionIn our SCD transplanted patients, RBC alloantibodies against donor non- ABO antigens were an independent risk factor for GF. Patients with GF had an inferior survival and strategies for decreasing GF risk are needed.

Whole Blood Transcriptome Analysis in Congenital Anemia Patients.

Congenital anemias include a broad range of disorders marked by inherent abnormalities in red blood cells. These abnormalities include enzymatic, membrane, and congenital defects in erythropoiesis, as well as hemoglobinopathies such as sickle cell disease and thalassemia. These conditions range in presentation from asymptomatic cases to those requiring frequent blood transfusions, exhibiting phenotypic heterogeneity and different degrees of severity. Despite understanding their different etiologies, all of them have a common pathophysiological origin with congenital defects of erythropoiesis. We can find different types, from congenital sideroblastic anemia (CSA), which is a bone marrow failure anemia, to hemoglobinopathies as sickle cell disease and thalassemia, with a higher prevalence and clinical impact. Recent efforts have focused on understanding erythropoiesis dysfunction in these anemias but, so far, deep gene sequencing analysis comparing all of them has not been performed. Our study used Quant 3' mRNA-Sequencing to compare transcriptomic profiles of four sickle cell disease patients, ten thalassemia patients, and one rare case of SLC25A38 CSA. Our results showed clear differentiated gene map expressions in all of them with respect to healthy controls. Our study reveals that genes related to metabolic processes, membrane genes, and erythropoiesis are upregulated with respect to healthy controls in all pathologies studied except in the SLC25A38 CSA patient, who shows a unique gene expression pattern compared to the rest of the congenital anemias studied. Our analysis is the first that compares gene expression patterns across different congenital anemias to provide a broad spectrum of genes that could have clinical relevance in these pathologies.

Quality of Life and Out-of-Pocket Expenditures for Sickle Cell Disease Patients in Saudi Arabia: A Single-Center Study.

Background: Sickle cell anemia (SCD) is a relatively uncommon health condition in many countries, but it is prevalent in Saudi Arabia mainly due to the high incidence of consanguineous marriages. Regrettably, there are elevated rates of vaso-occlusive crises (VOCs) and blood transfusions, leading to poor quality of life and significant financial strain. Objective(s): This study aimed to assess the frequency of blood transfusions, out-of-pocket expenditures (OOPEs), and health-related quality of life (HRQoL) in SCD patients. Methods: This was a questionnaire-based cross-sectional study that involved SCD patients at a university-affiliated tertiary care center in Riyadh, Saudi Arabia. The patients' medical and sociodemographic characteristics were obtained from the electronic medical records. Data on HRQoL and OOPEs were collected through a questionnaire-based interview. To present the baseline characteristics, descriptive statistics such as mean, standard deviation, frequency, and percentage were used. In addition, various statistical tests, including the Chi-Square test, Student t-test, one-way ANOVA, and multiple linear regression, were performed. Results: One hundred and eighteen patients consented to participate and were included in the analysis. Almost 53% of the patients were females. The mean age of the sample was 31 years, while the age-adjusted quality-adjusted life years (QALYs) was 24.33 years (p-value < 0.0001). Most patients (83.05%) reside in Riyadh with a monthly family income of less than USD 2666.67 (75.42%). Monthly OOPEs were, on average, USD 650.69 ± 1853.96, and one-third of the adult patients reported income loss due to illness, further exacerbating their financial strain. High frequency of blood transfusion (β = -0.0564, p-value = 0.0066) and higher number of comorbidities (β = -0.10367, p-value = 0.0244) were negatively associated with the HRQoL among adult patients. On the other hand, adult patients with higher levels of education had better HRQoL (β = 0.05378, p-value = 0.0377). Conclusions: The findings of this study highlight the negative impact of SCD on patients' HRQoL and financial well-being. This underscores the urgent need for comprehensive systemic approaches to address the challenges posed by SCD in Saudi Arabia.

Beat-to-beat analysis of hemodynamic response to mental and psychological stress in sickle cell anemia

Abstract Vaso-occlusive crises are a hallmark symptom of sickle cell disease. Physical stressors can trigger decreased microvascular blood flow and increase the risk for vaso-occlusive crises. However, the effect of mental and psychological stressors on vascular physiology in sickle cell disease is not well-established. We hereby examined fluctuations in continuous blood pressure to evaluate hemodynamic changes in sickle cell disease patients during mental and psychological stress. Thirteen sickle cell disease subjects from the Children’s Hospital Los Angeles and 11 healthy volunteers were recruited. Continuous blood pressure was recorded during two mental tasks and one psychological stress task. Systolic beat-to-beat blood pressure variability measurements were calculated for each subject. Three very short-term blood pressure variability metrics served as outcome measures: standard deviation, coefficient of variation, and average real variability. Peripheral augmentation index was calculated from arterial waveforms. Linear mixed effects models evaluated associations between patient factors and outcome measures. Sickle cell disease patients exhibit increased systolic blood pressure variability in response to psychological stress. All subjects exhibited a decrease in systolic blood pressure variability in response to mental stress tasks. During mental stress, both groups displayed increased augmentation index, reflective of stress-induced vasoconstriction, while psychological stress in sickle cell disease patients led to both decreased mean arterial pressure and increased augementation index, suggestive of uncompensated vasoconstriction. These findings emphasize the impact of mental and psychological stressors on vascular function in sickle cell disease and the potential for monitoring physiological signals to predict vaso-occlusive crisis events.

Burden of vaso-occlusive crisis, its management and impact on quality of life of Indian sickle cell disease patients.

Sickle cell disease (SCD) with vaso-occlusive pain crisis (VOC) significantly impacts patient well-being and often results in extensive healthcare resource utilization. This study assessed the VOC burden, its management and its impact on patients' quality of life (QoL). A cross-sectional observational study was conducted between November 2021 and June 2022, including 1000 SCD patients from high-prevalence states in India. Data on demographics, clinical characteristics, VOC severity, management and QoL were collected. The study revealed that 33.5% of patients reported at least one VOC episode during the study period. In the year prior to their enrolment, 836 (83.60%) patients reported at least one VOC episode, with an equal proportion of 407/487 (83.6%) adults and 429/513 (83.6%) paediatric patients, reducing their QoL across all domains compared to patients without VOC. Of these, 469/1000 patients (46.9%) experienced ≥3 VOC episodes. Additionally, 764/1000 (76.40%) patients managed their VOCs at healthcare facilities, with 501/1000 (50.1%) requiring inpatient admissions. Further, 71.80% of patients received Hydroxyurea (HU) therapy. The study depicts the severity of the Arab-Indian haplotype in Indian SCD patients visiting healthcare settings based on high VOC burden. This highlights the urgent need for better management strategies and resource allocation for these patients.

Absence of coronary artery disease in high-risk sickle cell anemia patients: a new illustration supporting the protective effect of Bilirubin against atherosclerosis?

Abstract Background Sickle cell anemia (SCA) is associated with both cardiac and systemic vascular disorders, which are the leading cause of morbi-mortality. Although these patients cumulate multiple cardiovascular (CV) risk factors, along with chronic inflammation and endothelial activation, some pre-clinical studies underlined a paradoxical protection against atherosclerosis. Purpose The aim of this study was to evaluate the prevalence of coronary artery disease in a high-risk SCA population. Methods From January 2019 to December 2023, consecutive adult patients with SCA were prospectively included in the DREPACOEUR registry to specifically analyze cardiac structure and function. They all had a comprehensive CV evaluation at steady-state in day-hospital including clinical exam, cardiac imaging, rhythm monitoring along with biology analysis. Only patients that underwent coronary imaging (CT coronary angiogram) were included in this study. Results Ninety patients were included. Mean age was 44±12, 50% were male with a high prevalence of systemic hypertension (57%), obstructive sleep apnea (21%) and 10% smokers. Only one patient had history of diabetes while no dyslipidemia (or lipid lowering therapy) was reported. Heart function was mainly preserved with a mean left ventricular ejection fraction (LVEF) of 58±5%. Expectedly, patients showed low hemoglobin level 8,7±1.4g/dL with high hemolysis markers. Glomerular filtration rate was 109 [62; 122] mL/min/m² with 21% having chronic kidney disease. Plasmatic LDLc level was low (0.7±0.3g/L, with 20% &amp;lt;0.5g/l) while triglycerides (TG) were highly variable (1.1±0.7mg/dL). Strikingly, no patient showed signs of significant coronary artery disease, with 87% presenting a calcium score of 0, 77% had a CAD-RADS of 0 while no patient was higher than 2. Correlation and linear regression analysis were performed to find independent parameters associated with LDLc and TG. Total bilirubin was the only variable that correlated with both LDLc and TG (R= -0.37, p&amp;lt;0.001 and R= -0.33, p=0.001 respectively). Conclusion Despite systemic vasculopathy and chronic inflammation, ageing SCA patients showed no significant coronary artery disease. These data are in line with pre-clinical studies suggesting a lipid-lowering role of bilirubin and its protective effect against atherosclerosis.

Sonographic Assessment of Splenic Manifestations in Sickle Cell Disease Patients and Its Relation to Hematological Parameters: A Cross-Sectional Study in Basra, Iraq

Sonographic Assessment of Splenic Manifestations in Sickle Cell Disease Patients and Its Relation to Hematological Parameters: A Cross-Sectional Study in Basra, Iraq

Quality of life in people with sickle cell disease treated with automated red blood cell exchange.

This review aims to explore the impact of sickle cell disease (SCD) on patients' quality of life (QoL) and the effectiveness of different transfusion modalities, particularly automated red blood cell exchange (aRBCX), in managing the factors that impact QoL. A systematic search was performed in PubMed to retrieve articles with data on QoL in SCD patients treated with aRBCX during the last 20 years. A targeted search for medical guidelines and a free search were added. When assessing the impact of the transfusion modality on the QoL of patients with SCD, some studies indicated an improvement in health-related QoL when using aRBCX while others reported no differences. The benefits of aRBCX include a decrease in length of hospital stay, pain-related hospitalizations and procedure time. The drawbacks of aRBCX were also identified, including an increased number of procedure-related complications (despite the overall number of complications showing no significant differences) and a more complex vascular access. Chronic red blood cell exchange favours psychosocial factors such as anxiety and social functioning, but the impact of using aRBCX in these parameters is not determined yet. aRBCX, known to be an efficient procedure to manage SCD, appears to be promising in improving patients' QoL. However, more comprehensive studies incorporating patient-reported outcomes are needed to fully understand the impact of different transfusion modalities on QoL in SCD patients. An integrated care approach, including psychological support and pain management, may further enhance QoL.

Evaluation of Haemoglobin F and Haemoglobin A2 among Sickle Cell Patients in Steady State at Selected Hospital in Ogun State, Nigeria

Background: Sickle cell anemia (SCA) is a genetic disorder characterized by abnormal hemoglobin variants, including hemoglobin F (Hb F) and hemoglobin A2 (Hb A2). Evaluating the levels of these hemoglobin variants in steady-state sickle cell patients can provide insights into disease prognosis and management. This study aimed to assess Hb F and Hb A2 levels among sickle cell patients in steady state at a selected hospital in Ogun State, Nigeria. Objective: To evaluate the levels of hemoglobin F (Hb F) and hemoglobin A2 (Hb A2) in sickle cell anemia patients and determine their associations with demographic factors such as age and gender. Materials and methods: A descriptive cross-sectional study was conducted at the Sickle Cell Center, Abeokuta, Ogun State, Nigeria, from September to October 2020. A total of 60 sickle cell patients in steady state were recruited using convenient sampling. Blood samples were collected, and Hb F and Hb A2 levels were measured using high-performance liquid chromatography (HPLC). Data were analyzed using SPSS version 26.0 with independent t-test and bivariate correlation. Results: The mean levels of Hb F and Hb A2 varied across age groups and genders. Hb F levels were highest in patients over 35 years (10.4 ± 12.16%) and lowest in those aged 26-30 years (3.7 ± 1.3%). The majority of participants had Hb F levels between 2-10%, with a significant association between Hb F levels and age (p = 0.038). Hb A2 levels were consistently above 3.1% in 92.6% of the study population, with no significant association with age or gender. Conclusion: There is a significant association between age and Hb F levels among steady-state sickle cell patients, while Hb A2 levels showed no significant demographic correlations. The findings suggest that Hb F may serve as a potential marker for clinical evaluation in SCA patients.

Prescribing Hydroxyurea in Sickle Cell Disease Patients: The Pattern and Association with Co-Prescribed Medications Used to Manage the Disease Complications.

Background and Objectives: Hydroxyurea (HU) is an effective medication used to reduce the frequency of painful crises associated with sickle cell disease (SCD). However, data describing its prevalence among SCD patients in the Eastern Region of Saudi Arabia are scarce. This is a multi-center, retrospective, cross-sectional study that aims to investigate the pattern of prescribing HU in SCD patients and to determine the association between prescribing HU and other co-prescribed medications used to manage SCD complications. Methods: Data were collected from patients who visited the hematology clinics of Al-Qatif Central Hospital (QCH) and King Fahad Hospital in Hofuf (KFHH) between June 2021 to May 2023. The data included demographics, prescribed medications, and recent laboratory test results, all of which were collected from patients' medical records. Descriptive statistics were utilized to assess the difference between HU users vs. non-users. A binary logistic regression model was used to determine the association between prescribing HU and co-prescribed medications used to manage SCD complications. The results are presented as the odds ratio (OR) and 95% confidence interval (95% CI). Results: This study included 2816 SCD patients with a 56% prevalence of HU prescription. HU was prescribed for young age groups more often compared to old age group patients. Young males were more likely to be prescribed with HU compared to females, and it becomes dominant in females after the age of 36. HU users were more likely to have paracetamol (69% vs. 53%, OR = 1.9, 95% CI 1.6-2.2), NSAIDs (50% vs. 35%, OR = 1.7, 95% CI 1.5-2), and opioids (41% vs. 37%, OR = 1.3, 95% CI 1.1-1.6) co-prescribed, and less often to have laxatives (8% vs. 5%, OR = 0.66, 95% CI 0.48-0.9) and anticoagulants (22% vs. 15%, OR = 0.56, 95% CI 0.46-0.68) co-prescribed compared to non-users. Conclusions: The pattern of prescribing HU, supported by the association findings, raises concerns about patients' compliance and adherence to HU therapy. Early health education, specifically to young female SCD patients, is warranted to increase the success rate of HU therapy.