Sickle Disease Research Articles

Frequency of red blood cell allo-immunization in transfused patients with sickle cell disease in Africa: a systematic review with meta-analysis

Background and Objectives: Blood transfusion is an effective and proven treatment for some severe complications of sickle cell disease. Recurrent transfusions have put patients with sickle cell disease at risk of developing antibodies against the various antigens they were exposed to. This study aims to investigate the frequency of red blood cell alloimmunization in patients with sickle disease in Africa. Materials and Methods: This is a systematic review of peer-reviewed and published literature. The review was conducted consistent with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist.Data sources for the review include MEDLINE, PubMed, AJOL, CINAHL, Psych-Info and Academic Search Complete. Included in this review are articles that reported the frequency/prevalence of red blood cell alloimmunization in sickle cell disease patients in Africa. Eligible studies were subjected to independent full-text screening and data extraction. Risk of bias assessment was conducted with the aid of the mixed method appraisal tool. We employed a random-effects model of meta-analysis to estimate the pooled prevalence. We computed Cochrane’s Q statistics and I2 and prediction interval to quantify heterogeneity in effect size. Results: The prevalence estimates range from 2.6% to 29%. Pooled prevalence was estimated to be 12.1% (95% CI 8.1 to 17.7), with significant heterogeneity (I2= 91.83; PI = 2 to 54%). Conclusion: The frequency of red cell alloantibody varies considerably in Africa. Keywords: Systematic review; red blood cell; alloimmunization; sickle cell disease; Africa.

Healthcare Access Implications and Psychosocial Effects of Sickle Disease

Healthcare Access Implications and Psychosocial Effects of Sickle Disease

Clinical outcomes of COVID-19 in patients with sickle cell disease in French Guiana

ObjectivesFrench Guiana also suffered concrete epidemiological consequences of the SARS-CoV2 epidemic. These regions are home to a large number of sickle cell patients who are at risk of developing severe forms of COVID-19. This study aimed to describe the characteristics and prognosis of patients with sickle disease infected with SARS-CoV2 during the first and second epidemic waves of 2020 in French Guiana. DesignWe conducted a multicenter, retrospective cohort study that included sickle cell patients followed up in French Guiana. ResultsAmong the 79 patients infected with SARS-CoV2, there were 26 children <18 years. Forty-two patients were hospitalized and 37 were outpatients. Respiratory illness (38 %), vaso-occlusive crises (18 %), and acute chest syndrome (8 %) were the main causes of hospitalization. There were two cases of pulmonary embolism and one case of deep limb thrombosis. Seven patients were transferred to the ICU. Of these, three received mechanical ventilation, and two died. The deceased patients had the SS phenotype (a 16-year-old boy and a 32-year-old man), both of whom exhibited severe pneumonitis complicated by COVID-19. ConclusionDespite the two deaths, the overall outcome was favorable.

Osteonecrosis of the femoral and Humoral heads in sickle disease patients: Risk factor, Comorbiditis

ObjectivesAVN is the most common in Sickle Cell Disease patients, as SCD is common in the Jazan region of Saudi Arabia. The risk factors, and comorbidity regarding AVN of hip and shoulder joints in SCD patients were investigated in this study. MethodsThis retrospective cohort study was conducted at the two biggest hospitals in the Jazan region. A valid data collection sheet was used to collect information of SCD patients admitted to the wards or during follow-up. Staging for HAVN and SAVN was based on FICAT classification guidelines. Descriptive statistics and multivariate logistic regression were utilized. Resultstotal number of participants is 257, and 99 (38.5%) were under 14 years of age. About half of the participants are (134) females. Regarding participants' hemoglobin type, 78.6% had SCD, while 21.4% had sickle thalassemia. The occurrence of HAVN and SAVN is 14.8% and 5.4%, respectively. Of the 38 HAVN participants, 26.3% had comorbidities, and 5.3% had hypertension. The SAVN participants didn't report diabetes or hypertension. The vascular occlusive crisis is the most significant complication associated with SCD. Multivariate logistic regression determined some risk factors for SAVN and HAVN. ConclusionAVN is a frequent consequence of SCD, where the incidence rises with age. The vascular necrosis is the most significant complications. Continuing research on the prevention and non-surgical treatments of AVN caused by SCD must remain a top focus.

A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease.

The most common forms of sickle cell disease (SCD) are sickle cell anemia (SCA; HbSS) and HbSC disease. In both, especially the more dense, dehydrated and adherent red blood cells (RBCs) with reduced deformability are prone to hemolysis and sickling, and thereby vaso-occlusion. Based on plasma amino acid profiling in SCD, a composition of 10 amino acids and derivatives (RCitNacQCarLKHVS; Axcella Therapeutics, USA), referred to as endogenous metabolic modulators (EMMs), was designed to target RBC metabolism. The effects of ex vivo treatment with the EMM composition on different RBC properties were studied in SCD (n=9 SCA, n=5 HbSC disease). Dose-dependent improvements were observed in RBC hydration assessed by hemocytometry (MCV, MCHC, dense RBCs) and osmotic gradient ektacytometry (Ohyper). Median (interquartile range [IQR]) increase in Ohyper compared to vehicle was 4.9% (4.0%-5.5%), 7.5% (6.9%-9.4%), and 12.8% (11.5%-14.0%) with increasing 20×, 40×, and 80X concentrations, respectively (all p<0.0001). RBC deformability (EImax using oxygen gradient ektacytometry) increased by 8.1% (2.2%-12.1%; p=0.0012), 9.6% (2.9%-15.1%; p=0.0013), and 13.3% (5.7%-25.5%; p=0.0007), respectively. Besides, RBC adhesion to subendothelial laminin decreased by 43% (6%-68%; p=0.4324), 58% (48%-72%; p=0.0185), and 71% (49%-82%; p=0.0016), respectively. Together, these results provide a rationale for further studies with the EMM composition targeting multiple RBC properties in SCD.

Actuarial Models for Management of Sickle Cell Under the National Health Insurance Scheme

The paper examined actuarial models for managing sickle cell care disease under the national health insurance scheme in Lagos State, Nigeria. The objective was to determine the effectiveness of existing actuarial models in predicting and managing the costs associated with Sickle Cell Disease (SCD) care under the NHIS in Lagos State. A descriptive survey was conducted with 216 underwriters from 27 insurance companies, focusing on patients registered under the scheme, including those diagnosed with sickle cell disease regardless of age. Descriptive statistics of mean and standard deviation was used to answer the research questions. The study found that underwriters in Lagos State agreed on the effectiveness of actuarial models in predicting and managing costs associated with Sickle Cell Disease (SCD) care, as well as their impact on accessibility and quality of care. However, they acknowledged the challenges and limitations in applying actuarial models effectively within the National Health Insurance Scheme (NHIS). The study recommends that underwriters advocate for policy reforms that support the integration of effective actuarial models into the NHIS framework, creating an environment conducive to improved SCD care accessibility and quality.

CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease.

Variations in lipid profile have been observed in sickle cell disease (SCD) and understanding their relationship with disease severity is crucial. This study aimed to investigate the association of polymorphisms of the CETP gene and laboratory markers of disease severity with lipid profile in a pediatric population with SCD. Biochemical and anthropometric analyses and CETP and alpha-thalassemia genotyping were performed. The study included 133 children and adolescents with sickle cell anemia (SCA) or hemoglobin SC disease (SCC), in steady-state. The SCA and no hydroxyurea (no HU) groups had higher values of ApoB, total cholesterol, low-density lipoprotein cholesterol (LDL-C), and non-high-density lipoprotein cholesterol (non-HDL-C) compared to the SCC and HU groups. However, there were no significant differences in ApoA1 and HDL-C levels between the groups based on genotype. Furthermore, the groups with altered levels of ApoA1, HDL-C, and the triglyceride/HDL ratio exhibited lower hemoglobin (Hb) levels and higher white blood cell counts. Hb level was associated to HDL-C levels. Analysis of CETP gene variants showed that the minor alleles of rs3764261 (C>A), rs247616 (C>T), and rs183130 (C>T), as well as the TTA haplotype, are explanatory variables for HDL-C levels. These findings suggested that dyslipidemia in SCD, specifically related to HDL-C levels, may be influenced by individual genetic background. Additionally, further investigation is needed to determine if clinical manifestations are impacted by CETP gene variants.

Clinicopathologic Study of Sickle Cell-associated Kidney Disease: A Nigerian Experience.

Improvements in sickle cell disease (SCD) care have resulted in the survival of many patients into adulthood, although this is accompanied by the increased incidence of end-organ damage, including chronic kidney disease (CKD). This study assessed the prevalence, pattern and predictors of renal dysfunction in SCD patients and investigated the associated renal histopathologic changes. We evaluated 105 patients with SCD, for proteinuria, estimated glomerular filtration rate (eGFR), and tubular dysfunction. Renal biopsy was conducted on 22 patients who qualified. Data were analysed using SPSS package version 23. Thirty-seven (35.2%) of the 105 patients had CKD, as defined by an eGFR of 60 ml/min/1.73 m2 and/or proteinuria. The fractional excretion of potassium (FEK) was elevated in all patients, whereas the fractional excretion of sodium (FENa) was elevated in 98.1%. Glomerular filtration rate was negatively correlated with irreversible percentage sickle cell count (r = -0.616, P = 0.0001), FEK (r = -0.448, P = 0.0001) and FENa (r = -0.336, P = 0.004). Age, irreversible percentage sickle cell count, haemoglobin levels and FENa were the major predictors of CKD. The histological pattern in the 22 patients who had biopsies was consistent with mesangioproliferative glomerulonephritis 11 (50%), minimal change disease 6 (27.3%), focal segmental glomerulosclerosis 3 (13.6%) and interstitial nephritis 2 (9.1%). CKD was prevalent in SCD patients, and it was characterised by tubular dysfunction and mesangioproliferative glomerulonephritis. The main predictors of CKD were increased age, severity of vaso-occlusive crisis, worsening anaemia and tubular dysfunction.

Impact of IV Contrast Exposure during Vaso-Occlusive Crisis on Sickle Cell Disease (SCD)

Background Sickle cell disease (SCD) affects more than 100.000 Americans, that can experience vaso-occlusive crisis (VOC). It can present with signs and symptoms that overlap with pulmonary embolism (PE), e.g. pleuritic chest pain, shortness of breath, hypoxia or sinus tachycardia. Hence, it is not uncommon that patients with SCD are exposed routinely to IV contrast (IV-cx) to rule out PE with every VOC recurrence. We hypothesized that exposure to IV-cx increases blood viscosity temporarily and therefore exacerbates RBC sickling with worsening oxidative stress and VOC. Methods This was a retrospective chart review study, where we analyzed all encounters for VOC at the ED of MedStar Washington Hospital Center in between 2021-2022. We excluded those not admitted to the inpatient service and discharged from the ED, those not exposed to IV-cx to rule out PE and those without 3 other VOC admission without IV-cx exposure to compare as control. Herein, will discuss 33 patients' results. A total of 132 admissions were analyzed for 33 patients (1 with IV-cx + 3 regular admissions without IV-cx exposure), each patient serving as their own controls, acknowledging the heterogeneity of SCD VOC. For control admissions we looked at the 3 closest in time from the admission with IV-cx exposure. Severity of each VOC (with or without IV-cx exposure) was determined by the composite of lab results, clinical and treatment data for each admission, creating our own scoring system “VOC Severity Index” (Table 1). Scores were given from 0-4, &amp;gt;3 representing end-organ damage. Maximum score was 39. Likewise, we collected data on new PE, new DVT, therapeutic anticoagulation, basic demographics and SCD genotype not recorded in the severity index score. Results were analyzed through Graphpad Prism software. This study received IRB approval from MedStar Health Research Institute. Results 54.5% (18/33) were female, mean age was 25 (18-45), 86% were HbSS, and 100% were Black. We compared the severity index of the admission with IV-cx exposure against the mean severity index score of the 3 other VOC admissions without IV-cx exposure. VOC severity index was higher for the admission related with IV-cx exposure in 90% (30/33) patients (p= 0.0004***) (Fig 1A). CT chest with PE protocol was negative in 100% (33/33). No DVT was reported in the totality of 132 encounters. AKI was noted in 15.0% (5/33) of patients when IV-cx was used, vs 7.0% (7/99) when no IV-cx was used. Length of stay was not significantly different (p=0.436) (mean IV-cx stay: 8 days vs. mean non-IV cx stay: 7.8 days) . RBCs exchange transfusion happened in 10% of total encounters analyzed (14/132), being 42% (6/14) of the situations when IV-cx was used. Acute chest syndrome (ACS) developed in 19 admissions of 10 patients (6 female/4 male). Interestingly, 42% (8/19) of ACS happened when IV contrast had been used, and only 7/19 were managed with RBC exchange transfusion. In 1 encounter with IV-cx exposure, patient developed acute chest syndrome and ARDS requiring ECMO, (end-organ damage not reflected in our severity index score). VOC Severity Index means were similar in female vs male patients. Likewise, gender was not related to higher frequency of AKI, exchange transfusion or length of stay. Conclusions IV-cx exposure is associated with worsening in the severity of the VOC, manifested as more severe pain, and need of escalation of treatments, albeit with no increase in the LOS. Iv-cx should be avoided in SCD patients in VOC, when possible. PE should remain low in the differential in the setting of VOC, despite overlapping symptoms. Our findings are limited in the nature of retrospective chart review and small number of patients. Further analysis with prospective larger cohorts are needed for a better understanding on the role of IV-cx exposure, sickle cell renal disease and VOC.

Clinical and Epidemiological Characteristics of Patients Admitted with Acute Chest Syndrome on a National Scale and Factors Affecting Clinical Outcomes in Inpatient Setting

Introduction Acute chest syndrome (ACS) is a clinical presentation of fever, chest pain, pulmonary symptoms, and new infiltrates on lung imaging. It affects nearly 50% of patients with sickle cell disease during their lifetime and often leads to hospitalization. The mortality rate is variable ranging from 3 to 9 %. and depends on several factors. We aimed to identify the clinical and epidemiological characteristics of patients admitted with ACS on a national scale and factors affecting clinical outcomes in inpatient setting. Methods: We utilized the National Inpatient Sample (NIS) database 2019 for the purpose of this study. Using this database, we identified patients with a principle diagnosis of ACS using International Classification of Diseases (ICD-10) codes. Data on demographic characteristics such as age, sex, race, insurance type were collected. Additionally, we selected clinically significant medical comorbidities such as asthma, chronic obstructive pulmonary disease (COPD), coronary artery disease (CAD), chronic kidney disease (CKD), heart failure, hypertension, diabetes mellitus (DM), sepsis, obesity, and others. The primary endpoint of this study was to identify factors influencing all-cause mortality, while the secondary endpoint was to identify factors influencing mechanical intubation, in-patient blood transfusion, and length of stay. We used multivariate logistic regression analysis to adjust for confounders. A p value of ≤0.05 considered statistically significant. Results: Baseline Characteristics Our analysis consisted of 22,459 patients who were admitted with principal diagnosis of ACS. 49.5% were female and 50.5% were male. Mean age was 30.5 years. African American race was predominant (92%) with sickle cell Hb-SS disease (87%). Major insurance payer was Medicaid (47%) followed by Medicare (27%) and then private insurance (21%). Asthma was the most common comorbidities (24%) and majority of patient had Charlson Comorbidity Index (CCI) score of zero (55%). The details of clinical and epidemiological characteristics are shown in Table 1. Clinical outcomes and factors influencing mortality Only 0.89% patient died of ACS. Average length of stay was 6.86 days. 34% of the patient required packed red blood cell (pRBC) transfusion. 3.2% needed mechanical ventilation. In multivariate analysis, factors associated with mortality included age of patient, CCI and sepsis. Younger patient had higher odds of mortality however this was not statistically significant. There was no difference in mortality with sex, race and insurance status of the patients. Factors affecting inpatient transfusion, mechanical ventilation and length of stay Female, higher CCI score and sepsis on admission were associated with higher needs of inpatient pRBC transfusion. Within race, White (OR 3.16, CI 1.44-6.93, P &amp;lt;0.01) and Hispanics (OR 2.68, CI 1.59-4.51, P&amp;lt;0.01) had higher odds of receiving transfusion compared to African Americans (OR 1.84, CI: 1.17-2.89, P &amp;lt;0.01). Similarly patient with sepsis, supraventricular tachycardia had more odds of needing mechanical ventilation. Patient's insurance status was also related to increased odds of intubation. Comorbidities such as asthma and CAD were not associated with need of mechanical ventilation and in fact our study shows they had less odd of needing mechanical ventilation. Length of stay was influenced by several of epidemiological and clinical comorbidities. Females had less odds of longer length of stay compared to male (OR: 0.65, P &amp;lt;0.01). Comorbidities such as asthma, heart failure, CAD, DM2 and hypertension did not increase the length of stay while patients with sepsis and high CCI score had higher odds of hospitalization for extended period of time. The details are in Table 2. Conclusion We found mortality was 0.89% in patients admitted with ACS compared to 3 to 9% previously reported. Sepsis and CCI were one of the predictors for odds of having higher mortality, need of blood transfusion, mechanical ventilation and increased length of stay in patient with ACS. Female, White and Hispanic had higher odds of needing transfusion then African Americans. Comorbidities such as asthma, heart failure, CAD, DM 2 and hypertension did not increase the odds of prolonged hospital stay.

A Prospective Study on Haemotological Profile of Sickle Disease

Background: Sickle cell disease (SCD) refers to a category of inherited hemoglobin (Hb) disorders. The pathophysiology of sickle Hb (HbS) variant emerges from the polymerization of the ensuing HbS variant, which triggers a chain of erythrocyte alterations and the disorder is known to be caused by a single-nucleotide substitution at position 6 of the globin gene. Both acute and chronic sequelae cause significant morbidity in people with sickle cell anemia (SCA). Methods: This prospective cross-sectional study was conducted in the Department of Pediatrics and Sickle Cell Anemia Laboratory, Department of Pathology, Prathima institute of medical sciences, Karimnagar India, between June 2019-Feb 2020.Most of patients were from tribal background and lower socioeconomic status. Before conducting the study, permission was obtained from the Ethical Clearance Committee. Results: A total of 37 children’s homozygous (SS) (mean age 11.6±3.4 years) for sickle cell anaemia was studied for their haematological parameters. Out of the total SS subjects, 26 were males and 11 were females. Males to female’s sex ratio: 2.3. 6 years to 14 years of childrens were taken. Mean (SD) age of male was 9.4 (3.29) years whereas SD age of female was 9.59 (3.59) years. Haematological value of study are mentioned below. Conclusion: We conclude that moderate to severe anemia with, lowMCV and high HbF dominate the hematological profile.

Validity and reliability of the WHOQOL-BREF in the measurement of the quality of life of Sickle disease patients in Bahrain.

Limited attention is devoted to the improvement of the quality of life of patients suffering from the negative consequences of Sickle cell disease (SCD). Our study focuses on the evaluation of the performance of the WHOQOL-BREF as a tool to measure the quality of life of SCD Patients in Bahrain. We conducted a cross-sectional study that enrolled 273 SCD patients selected using a simple random sampling technique from primary health-care centers in Bahrain in 2019. A designed questionnaire including the WHOQOL-BREF was filled by the patients in the health centers. The reliability of the WHOQOL-BREF was assessed by standardized Cronbach's alpha coefficient, and the validity was measured by convergent validity, principal component analysis and confirmatory factor analysis. The WHOQOL-BREF had good internal consistency as Cronbach's alpha coefficient for the overall scale was 0.91. The convergent validity results indicated that the correlation coefficients values for all scale domains are significantly correlated at α < 0.01. Confirmatory factor analysis found that the four-domain structure produced a robust fit to the data. The WHOQOL-BREF tool has high internal consistency and validity in assessing the quality of life of Sickle Disease patients in Bahrain.

Association of Vascular Endothelial Growth Factor gene Polymorphism 2578C/A with Vaso-occlusive Crisis in sickle disease

Objectives: to investigate the contribution of vascular endothelial growth factor (VEGF) variants 2578 C/A (rs699947) to vaso-occlusive crisis (VOC) pathogenesis in sickle cell disease (SCD) patients.

Predictive Effect of Methylene Tetrahydrofolate Reductase Variants on Vascular Related Crisis

BACKGROUND: Homocysteinemia is regarded as potential predictor for vaso-occlusive phenomenon often observed in sickle cell hemoglobinopathy. The objective was to determine the relationship of these genotypes with homocysteinemia and the predictive coefficient of these polymorphisms on the vascular-related crisis in the presence of sickle cell gene. MATERIALS AND METHODS: The case-control study comprised 89 children diagnosed with sickle disease with features of vascular crisis, 160 children without crisis and 252 apparently healthy children as the control group. The genotypes were assayed for C677T and A1298C variants and their association and predictor effect for homocysteinemia of different grades were analyzed. Sequential multiple regression model was used to assess the predictive effect. RESULTS: Homocysteine levels were significantly higher in the crisis group (P &lt; 0.001). When compared to the wild genotype the variants depicted significantly raised homocysteine levels (P &lt; 0.001). The prevalence of C677T was 29.9% and that for A1298 was 66.3% in the study population. The odds for crisis was 2.3 times for crisis in TT677 and 1.34 times in CC1298 variants. The genotypes revealed a significant association with different grades of homocysteinemia (P &lt; 0.001). Plasma homocysteine depicted significant negative correlation with weight, height, body mass index and hemoglobin levels. None of the TT variants reported normal homocysteine values. Shift toward the variant form showed an increase of homocysteine levels by 7.3 units and 6.9 units for C677T and A1298C single-nucleotide polymorphisms respectively. CONCLUSION: Co-presence of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms could be important predictor for homocysteinemia and thus contribute toward vascular crisis in sickle cell patients.

Are IL-1 family cytokines important in management of sickle cell disease in Sub-Saharan Africa patients?

Sickle cell disease (SCD) is the most common genetic disease found in Africa and throughout the world. It is responsible for a high rate of hemolysis, systemic inflammation, and modulation of the immune system with the involvement of immunological molecules, such as cytokines. IL-1β is a major inflammatory cytokine. IL-18 and IL-33, members of IL-1 family, also exhibit characteristics of inflammation-related cytokines. Thus, in order to contribute to the evaluation of the severity and prognosis of SCD in Africa, this study aimed to estimate the cytokine response, in particular the levels of cytokines of the IL-1 family, in sickle cell patients living in a Sub-Saharan country. Ninety patients with a diagnosis of SCD were recruited with different hemoglobin types. Samples were assessed for cytokine levels using the Human Inflammation Panel assay from BioLegend. The assay allows the simultaneous quantification of 13 human inflammatory cytokines/chemokines, i.e., IL-1β, IFN-α2, IFN-γ, TNFα, MCP-1 (CCL2), IL-6, IL-8 (CXCL8), IL-10, IL-12p70, IL-17A, IL-18, IL-23, and IL-33. the assessment of plasma cytokines in SCD patients revealed significantly increased levels of IL-1 family cytokines in crisis compared to steady state, suggesting a substantial involvement of these cytokines in clinical exacerbation. This suggests the possibility of a causal effect in the SCD pathology and can open the way to define better care, pointing toward new therapeutic avenues for sickle disease in Sub-Saharan Africa.

Brain-derived neurotrophic factor and neuroimaging in pediatric patients with sickle cell disease

BackgroundThe risk of neurological complications is increased in children with sickle cell disease (SCD), such as silent cerebral infarction (SCI) and stroke. Brain-Derived Neurotrophic Factor (BDNF) is a nerve growth factor associated with elevated transcranial Doppler (TCD) velocities and increased risk of stroke in SCD patients. So, we assessed the BDNF level in children with SCD and its relation to neurological complication as silent stroke.MethodsA comparative cross-sectional study was conducted on 40 patients with SCD, recruited from the Hematology Unit, Pediatric Department, Menoufia University Hospital, and 40 healthy children as controls. Laboratory investigations including BDNF were done. TCD was done for all patients and Magnetic Resonance Imaging (MRI) was done on high-risk patients.ResultsBDNF levels were significantly higher in children with SCD than in controls with a significant relation to TCD findings. There was a statistically significant diagnostic ability of BDNF in the prediction of SCD complications as its sensitivity was 89.5%, specificity (95% CI) was 80% with a cut-off point >0.69, AUC = 0.702, and p = 0.004).ConclusionSerum BDNF levels were higher in sickle disease patients who had abnormal transcranial Doppler. BDNF had a significant diagnostic ability in the detection of SCD complications.ImpactSilent stroke is a very serious complication in children with sickle cell disease, so regular follow up should be every six months.BDNF is considered a potential biomarker for stroke risk prediction in patients unable to receive TCD.

258 - Hyperhemolysis syndrome - a rare complication in a patient with sickle disease

258 - Hyperhemolysis syndrome - a rare complication in a patient with sickle disease

Transitions experienced by mothers of children/adolescents with sickle cell disease in the context of the COVID-19 pandemic.

To analyze the transitions experienced by mothers and children/adolescents with sickle cell disease after the emergence of the COVID-19 pandemic. A qualitative study involving 19 mothers of children and adolescents with sickle cell disease. Data were obtained through semi-structured interviews via WhatsApp, followed by Thematic Analysis and Descending Hierarchical Classification with the help of Interface de R pour les Analyses Multidimensionnelles de Texteset de Questionnaires and interpreted in the light of Afaf Meleis' Transition Theory. Support from family members for displacement; mothers' adherence to the routine of daily stimuli and physical exercises favored healthy transitions; lack of remote health care; low socioeconomic resources; interruption of the physiotherapy service; and maternal overload favor unhealthy transitions. Efforts/movements by mothers ensure the healthy transition of children/adolescents with sickle disease during the pandemic, while supporting their unhealthy transition.

Early recognition of pulmonary complications of sickle cell disease

Sickle cell disease (SCD) is an inherited hematological disorder with multiple-organ involvement. The pulmonary complications of SCD are associated with significant morbidity and mortality. This article presents an important review of acute and chronic pulmonary complications, including acute chest syndrome, pneumonia, pulmonary thromboembolism, pulmonary fat embolism, chronic sickle cell lung disease, and pulmonary hypertension, in patients with SCD. Bronchial asthma and obstructive sleep apnea in relation to SCD are discussed in this article. Early recognition of pulmonary complications leads to early therapeutic interventions and improvement of the overall treatment outcome.

Clinical Correlates of Acute and Chronic Pulmonary Complications in Children with Sickle Cell Disease from Madhya Pradesh, India: A Cross-sectional Study

Introduction: Sickle Cell Disease (SCD) is one of the most common hereditary haemoglobinopathies globally. Patients with SCD are at a high risk of pulmonary complications. However, there have been very few studies in literature regarding the spectrum of pulmonary involvement and its association with clinicotherapeutic parameters in Indian patients. Aim: To study the incidence of acute and chronic pulmonary complications in children with SCD and to estimate the association of various risk factors with pulmonary complications. Materials and Methods: The present observational crosssectional study was conducted in the Department of Paediatrics, Mahatma Gandhi Memorial Medical College (tertiary care hospital) and Maharaja Yeshwantrao (MY) Hospital, Indore, Madhya Pradesh, India, from June 2021 to July 2022. A total of 100 patients with SCD below the age of 18 years attending sickle-thalassaemia Outpatient Department (OPD) and Inpatient Department (IPD) with pulmonary symptoms admitted were enrolled in the study. Clinical history, physical examination and laboratory findings were noted as per the preconstructed proforma. Data were statistically analysed with unpaired t-test and Pearson’s Chi- square test. Results: A total of 100 patients with SCD were enrolled and the mean age of the study subjects was 9.27±3.39 years. Nearly equal distribution of males (n=52) and females (n=48) were seen with male to female ratio of 1:1.08. Incidence of complications was seen very high in homozygous sickle disease (63%) followed by only 40% in Haemoglobin S (HbS) beta thalassaemia. Most common complication noted in our patients was Acute Chest Syndrome (ACS) (57.7%), followed pneumonia (20%), sympneumonic effusion (15.6%) while only 6.7% had pulmonary hypertension. A statistically significant association (p-value&lt;0.05) was found between compliance to Hydroxyurea therapy and frequency of Vaso-occlusive Crisis (VOC) episodes with pulmonary complications status. Conclusion: In the present study, most frequent acute pulmonary complication noted was ACS followed by pneumonia and sympneumonic effusion. Frequency of VOCs episodes was significantly associated with increased risk of developing pulmonary complications.