Exploring the Prevalence and Contributing Factors of Depression among Sickle Cell Anemia Patients in Saudi Arabia’s Jazan Region

Sickle Cell Anemia(SCA)is a prevalent genetic condition in Saudi Arabia,particularly in the Jazan region.The study’s purpose was to assess the prevalence of de-pression among individuals with SCA in this area and to identify the factors associated with this condition.The study involved 391 adult participants,all patients in the hematology center of Prince Mohammed bin Nasser Hospital(PMNH).Data was collected through an anonymous interview questionnaire–the Arabic version of the Patient Health Questionnaire-9(PHQ-9)–between March–May 2022.The questionnaire covered socio-demographic information and variables related to the participant’s SCA history,such as pain levels,frequency of pain,hospitalization duration,and frequency of blood transfusions.These variables underwent Chi-square and One-way ANOVA testing,followed by multivariate regression.The study found a 42%prevalence of depression among the SCA patients.Factors significantly linked with heightened depression levels included being widowed or divorced,experiencing frequent and severe pain,and longer duration of hospital stays.An educational level of at least a bachelor’s degree was also a significant factor.The study reveals a high prevalence of depression among SCA patients in the Jazan region.It underscores the need for policymakers to educate both physicians and patients about the importance of mental health in SCA management.The study also highlights the need for more research into the specific causes and effects of depressive symptoms in SCA patients to inform the creation of effective management plans.

Seroprevalence of parvovirus B19 antibodies and evidence of viremia among Nigerian patients with sickle cell anemia

Clinical, biochemical and molecular evidence for the sickle cell anemia （SCA） crisis in Nigerian patients arising from parvovirus b19 infection remains inadequate. This study determined the prevalence and correlates of antiparvovirus b19 antibodies in a population of SCA patients and non-SCA healthy controls in Lagos, Nigeria. In this prospective cross-sectional study, we enrolled 73 confirmed SCA patients from 5 district hospitals in Lagos and 81 sex and age-matched non-SCA healthy controls. Serum sample from each study participant was screened for anti-parvovirus b19 by ELISA and PCR techniques. Standard biomedical assays were also done. Anti-parvovirus b19 IgM and IgG antibodies were detected in 22 （14.3%） and 97 （62.9%） of the 154 sera screened, 13 （17.8%） and 45 （61.6%） in SCA patients; 9 （11.1%） and 52 （64.2%） in non-SCA controls. The overall seronegativity rate was 19.5%. Parvovirus B19 DNA was found in 2 （11.1%） of the 18 IgM seropositive SCA serum samples screened. On the whole, parvovirus b19 infection was more commonly asymptomatic in non-SCA controls but caused significant elevation in liver enzymes in infected SCA patients （P 〈 0.05）. The risk of acute parvovirus b19 infection increased 65 times during unsteady state among the SCA patients. Although no deaths of infected patients were recorded during the study, age below 12 years, hospitalization and overcrowded environment were risk factors for infection. We conclude that parvovirus b19 is common in SCA patients, incurring greater susceptibility to infections.

A Rare Presentation of Partial Segmental Thrombosis of the Corpus Cavernosum Secondary to Sickle Cell Anemia

Background: Partial segmental thrombosis of the corpus cavernosum, known as partial priapism, is an uncommon urological condition which predominantly affects young men in which the proximal part of one corpus cavernosum is thrombosed. Many risk factors have been described in the literature, however, the exact etiology of penile thrombosis and its pathogenesis remains unclear. Several treatment options are available ranging from conservative medical treatment, surgical intervention, or simple follow-up observation without treatment. Aim: In this study, we describe a patient with sickle cell anemia who presented with pain and a perineal swelling that was eventually diagnosed as partial priapism utilizing MRI scan and was treated conservatively with a successful outcome. We then performed a literature search of similar cases highlighting incidence, risk factors and management of this rare presentation. Case Presentation: A 23-year-old male who is known with sickle cell anemia presented to casualty with a 1-day history of perineal pain of a sudden onset associated with perineal swelling and vomiting. Genitourinary exam findings confirmed the absence of classic priapism. Careful examination of his perineal area revealed the presence of a fixed, hard, and tender mass at the proximal part of the penis. It was not attached to the overlying skin and no enlarged pelvic lymph nodes were felt. Once stabilized, MRI of the pelvis was performed showing right intra-tunical corpus cavernosum features suggestive of hematoma in keeping with partial segmental thrombosis of the corpus cavernosum. Conservative treatment was initiated, and the patient was managed expectantly in which he improved gradually with eventual disappearance of the perineal mass. Conclusion: Partial segmental thrombosis of the corpus cavernosum is a rare urological condition. Pathogenesis and etiologies are poorly understood but risk factors have been advocated of which sickle cell anemia is one of them. MRI has a crucial role in the diagnosis under this condition. Conservative treatment appears to be a reliable initial therapeutic option.

Cytokine profiles in sickle cell anemia:Pathways to be unraveled

Sickle cell anemia (SCA) is a genetically inherited hemolytic disorder characterized by chronic inflammation. Cytokine expression affects the pivotal pathways that contribute to disease pathogenesis, but the mechanisms involved are not well understood. SCA is associated with a proinflammatory state, and an enhanced inflammatory response occurs during vasoocclusive crisis. The immune system thus plays an important role in this inflammatory condition, with several cell types secreting pro-inflammatory cytokines that contribute to the occurrence of common cyclical events in SCA patients, such as hemolysis, vascular occlusion and inflammation. Studies of these cytokines and chemokines in SCA patients have clarified the mechanisms that underlie this disease and highlighted the need for a better understanding of cytokine participation in SCA pathophysiology.

Cardiopulmonary changes in patients with sickle cell anemia:A systematic review

BACKGROUND Given the high prevalence of cardiovascular and pulmonary abnormalities associated with sickle cell anemia(SCA),the clinical impact caused in addition to compromising the quality of life of patients and the overcharge that it represents to the public health system,this study systematized and evaluated scientific publications on pulmonary complications and cardiovascular diseases in sickle cell patients from 1920 to 2020.This compilation aims to provide knowledge for health professionals and managers in order to draw attention to the importance of chronic diseases in SCA patients and in addition to providing elements that provide improvements in management of useful resources that contribute to improve the quality and increase the life expectancy of these patients.AIM To systematically compile information about cardiopulmonary changes in patients with SCA.METHODS A systematic literature review was performed based on the PRISMA recommendation including scientific articles indexed in the Scientific Electronic Library Online databases of the United States National Library of Medicine and Biblioteca Virtual de Saúde.The search period was delimited between 1990 and 2020 and selected in Portuguese,English and Spanish.Three sets of descriptors were used for each database including research carried out with human beings.After reading the articles,those useful for this review were extracted using a collection instrument designed for this purpose.RESULTS The final selection included 27 studies.The year with the highest number of publications was 2016 with 5 studies(18.51%),followed by 2017 with 4(14.81%).The type of study most carried out in the period was cohort 10(37.03%)followed by cross-sectional and case-control with 8 studies in each(29.62%).Regarding the language of publication,the distribution was as follows:25(92.59%)in English,1(3.70%)in Spanish and 1(3.70%)in Portuguese.CONCLUSION The findings of the present study suggest that cardiopulmonary alterations represent a serious clinical repercussion of SCA.Of the analyzed studies,the high occurrence of pulmonary hypertension,ventricular hypertrophy and diastolic dysfunction stands out as the main cardiopulmonary complications.In view of the increased survival in SCA,there is a need for surveillance and the development of strategies aimed at preserving the cardiopulmonary function and consequently improving the quality of life of these patients.

Sinogenic Subdural Empyema in a Ten-Year-Old Boy with Sickle Cell Anemia

Objective: Sinogenic subdural empyema remains a neurosurgical emergency, even in the antibiotic era. Sickle cell disease is one of the most frequent hereditary diseases, with an incidence of around 4 in 1000 newborns, which necessitates special considerations before a neurosurgical intervention. Case Description: The case of a 10-year-old boy with sickle cell disease type HbSC is reported, who presented with meningitis about ten days after a nasal sinusitis. CT and MRI showed subdural empyema and immediate intravenous antibiotic treatment was started. The patient received partial exchange transfusion. Craniotomy allowed evacuation of empyema and repairment of a frontobasal dural defect. Endoscopic evacuation of the paranasal sinuses was done in the same anesthesia. After initial good recovery, the patient developed right sided paresis with epileptic seizures a few days later. CT scan revealed three distant empyema recurrencies which were evacuated in a second neurosurgical intervention. The child recovered without neurologic deficit, and control MRI examinations three and twelve months after surgery found frontal and parietal dural thickening as sequelae. Conclusion: Urgent neurosurgical interventions in the presence of sickle cell anemia require special anesthesiologic preparations. An immediate, multidisciplinary approach can lead to a good outcome in these life-threatening situations.

β-Globin Gene Cluster Haplotypes and Clinical Severity in Sickle Cell Anemia Patients in Southern Brazil

Hematopoietic stem cell transplantation(HSCT)has emerged as a curative strategy for sickle cell anemia(SCA);it is necessary to find markers of SCA clinical severity to spare those SCA patients whose clinical course is mild from the morbidity and mortality associated with HSCT. Haplotypes have been correlated with the severity of clinical manifestations in SCA patients, and fetal hemoglobin(HbF)and socioeconomic status(SeS)have also been described as negative factors. We studied these factors and their impact on clinical manifestations in a population of Southern Brazilian patients attending the Center for Sickle Cell Anemia at Hospital de Clínicas de Porto Alegre/RS, Brazil. Clinical severity was defined as two or more veno-occlusive episodes per year. The βS haplotypes were determined by PCR in 75 SCA patients. Among the 150 βS chromosomes analyzed, 99(66%)were identified as Bantu(Ban), 41(27%)asBenin(Ben), and 10(7%)as other haplotypes. Most patients in our sample(62.7%)belonged to lower SeS groups, precluding meaningful statistical analysis of SeS impact on clinical severity. There was no correlation between haplotypes or HbF level and SCA clinical severity. Gene polymorphisms and environmental issues have to be taken into consideration.

Review on Hydroxyurea Usage in Young Children with Sickle Cell Disease: Examining Hemoglobin Induction, Potential Benefits, Responses, Safety, and Effectiveness

Sickle cell disease (SCD) is a prevalent condition, particularly in the countries of sub-Saharan Africa, where the presence of specific genes associated with Malaria contributes to its high prevalence. Patients with sickle cell disease frequently experience painful episodes necessitating hospitalization, and their hemoglobin levels are typically lower than those of the general population. There are different treatment options available to manage complications, such as transfusing blood, hydroxyurea, and strong anti-pains. However, with all these treatments, patients still commonly experience pain crises and suffer from organ damage. Hydroxyurea, the sole approved medication for sickle cell anemia in developed and developing countries, is widely used in children despite being primarily indicated for adults. Multiple studies have demonstrated the efficacy of hydroxyurea in inducing HbF production in young children with SCD. Elevated HbF levels have been associated with improved clinical outcomes, including a reduction in vaso-occlusive crises, acute chest syndrome, and the need for blood transfusions. Furthermore, increased HbF levels have been shown to ameliorate disease-related organ damage, such as pulmonary hypertension and sickle cell retinopathy. The response to hydroxyurea treatment in young children with SCD is variable. Some patients achieve substantial increases in HbF levels and experience significant clinical benefits, while others may have a more modest response. Factors influencing the response include baseline HbF levels, genetic modifiers, treatment adherence, and dose optimization. Safety is a crucial consideration when using hydroxyurea in young children. Studies have shown that hydroxyurea is generally well-tolerated, with the most common adverse effects being myelosuppression, gastrointestinal symptoms, and dermatological manifestations. However,long-term effects and potential risks, such as renal dysfunction and reproductive impacts, require further investigation. The effectiveness of hydroxyurea in young children with SCD has been demonstrated in various clinical trials and observational studies. These studies have shown a significant reduction in disease-related complications and improved quality of life. However, optimal dosing, treatment duration, and long-term outcomes are still areas of ongoing research. This review focuses on recent studies investigating the benefits, effectiveness, responses, and safety of hydroxyurea in pediatric individuals diagnosed with sickle cell disease.

Sickle Cell Disease in the Zinder Region in 2023: Prevalence and Sociodemographic Factors

Introduction: In view of the number of sickle cell patients and due to a low production of descriptive studies, we decided to determine the prevalence of genes S and C of the disease in the Zinder region. The objective was to contribute to improving the management of sickle cell disease in Zinder. Methodology: This was a systematic screening by the “Sickle Scan” test of any blood donor admitted to the Zinder Regional Blood Transfusion Center during the 6-month study period, from January to June 2023. The Sickle Scan is a qualitative lateral flow chromatography immunoassay using whole blood samples that aid in the rapid diagnosis of sickle cell disease. Results: The study was carried out on 613 samples during the period concerned. The frequency of sickle cell genes was 26.9% (n = 165) in all samples collected, with 23.1% (n = 142) and 3.8% (n = 23) for the S gene and the C gene, respectively. The 18 - 30 age group was the most represented with 64.4% (n = 395) cases. The median age of blood donors was 26 years ± 10 years (min = 18 years/max = 60 years). The sex ratio was 2.5. Donors of Nigerien nationality accounted for 84.1% (n = 516). There is a predominance of blood donors with an average monthly income between 34,000 and 70,000 CFA francs in 44.3% (n = 272), lived in permanent housing with drinking water supply. Sickle cell trait (SMA) was found in 22.5% (n = 138). Conclusion: The analysis of these results highlights a high frequency of the S gene for sickle cell disease. The population with an average monthly income is the most affected, with a male predominance.

“FISH VERTEBRA” about 3 Sickle Cell Patients Followed at Laquintinie Hospital, Douala

Vertebral involvement in particular is common in sickle cell patients. We report 3 cases of “fish vertebra” fractures in sickle cell patients aged 16, 18, and 24 years old respectively at Laquintinie Hospital, Douala. When the vertebral fractures were diagnosed, the 3 patients had back pain and kyphosis deformities of the dorsal spine. Treatment with an infusion of biphosphonates (zoledronic acid at a dose of 0.5 mg·per·kg) was offered to all three patients. Two out of three patients received treatment with biphosphonates with a successful outcome. Profound vitamin D deficiency is associated with increased bone remodeling and a history of fractures. In sickle cell anemia, vertebral fractures may also result from bone fragility, which is often overlooked as aseptic osteonecrosis and osteomyelitis, which are very often suspected.

Study of Cerebral Vascular Accidents in Children with Sickle Cell from 6 Months to 15 Years of Age at the Gabriel Toure University Hospital Center

Sickle cell disease is a hereditary disease that remains a public health problem in Mali. Our objective was to study strokes in children with sickle cell disease aged from 6 months to 15 years in the pediatrics department of the Gabriel Toure university hospital center. This was a retrospective descriptive study from April 1, 2019 to March 31, 2021 and prospective from April 1, 2021 to April 30, 2022, i.e. 3 years, which took place in the Pediatrics department of the Gabriel Toure university hospital center. During this study, we identified 22 cases of stroke among 714 children with sickle cell disease. The frequency of stroke in this population is 3.08%. The age group from1 to 5 years was the most affected with 40.9%. The average age of the patients was 7 years with extremes ranging from 1 year to 15 years and a median of 5 years. The male gender was predominant with 54.5%, for a sex ratio of 1.2. Headaches were the most common neurological antecedents (63.5%). Half of the patients were diagnosed with sickle cell disease after the onset of the stroke. The installation of the deficit was progressive in 54.5% of cases. Consciousness disorders were the most frequent reason of consultation (27.2%), followed by convulsions (18.1%). The most common neurological signs were impaired consciousness and hemiparesis with 45.5% each. The stroke was ischemic in 100% of cases. There were 95.5% of SS forms and 4.5% of Sβ0thalassemia forms. Our patients had a hemoglobin level less than 7 g/dl in 57.1% of cases and between 7 and 9 g/dl in 42.8% of cases and hyperleukocytosis (leukocytes > 10,000/mm3) in 95.4% of cases. The Sylvian artery was the most affected (45.5%). The fatality rate was 22.7%.

Severe Acute Respiratory Distress Syndrome in a Patient with Sickle-Cell Anemia Requiring Veno-Venous Extracorporeal Membrane Oxygenation Therapy: Case Report and Review of the Literature

Background: Sickle cell anemia is caused by a mutation in the beta globin gene, resulting in the production of sickle hemoglobin, which is less soluble than normal hemoglobin. The main disease features are related to hemolytic anemia and blood vessels occlusion, causing ischemia and infracts. Acute chest syndrome is one of its most dangerous manifestations, and may cause severe hypoxemia and acute respiratory failure. Conservative management is often successful, but in rare cases the syndrome may be refractory. Extracorporeal membrane oxygenation (ECMO) support may be life-saving in these extreme situations. Case Report: A 31-year-old male admitted to the intensive care unit (ICU) in our hospital due to acute chest syndrome and massive aspiration. Due to extreme hypoxemia and severe acute respiratory distress syndrome, veno-venous ECMO support was initiated with rapid improvement in both oxygenation and hemodynamic status. The patient was weaned of ECMO after 7 days. He was discharged 4 weeks later. Although initiation of ECMO in sickle cell patients is uncommon, in selected refractory cases it may be life-saving. Conclusion: Although initiation of ECMO therapy in sickle cell anemia patients is uncommon, and may be even controversial, in selected refractory cases it may be life-saving.

Assessment of Membrane Erythrocyte Cholesterol Level in Sickle Cell Disease

Objective: The aim of this study was to assess the level of erythrocyte membrane cholesterol in sickle cell patients, which is one of the essential parameters of membrane fluidity that contributes to understanding the hemolytic state of the erythrocyte. Methods: We worked with blood specimens from 20 controls and 50 sickle cell patients. The blood count and the isoelectric focusing (IEF) were performed on the samples in order to select them. The titration of the erythrocyte membrane cholesterol was made after washing and lysing the erythrocytes with the hemolyzing solution (EDTA, 2 Mercapto-Ethanol, NADP, NaOH). The cholesterol level was assessed by the enzymatic colorimetric method. The results were analyzed by Student’s test. Results: We worked with 16 control subjects with a hemoglobin status and a normal hemogram. The evaluation of the erythrocyte membrane cholesterol level of the samples allows us to define the reference interval (α = 0.05) at 17.55 ± 3.83 mg of cholesterol/g of hemoglobin. The erythrocyte membrane cholesterol levels of sickle cell patients found in this study were 11.58 ± 2.98 mg cholesterol/g of hemoglobin. In this study, 38 sickle cell patients (76%) were found with a low erythrocyte membrane cholesterol level compared to the reference interval. Statistical analysis showed that there was a significant difference (α = 5%) between the erythrocyte membrane cholesterol level of normal subjects and sickle cell patients. Conclusion: Most of the sickle cells patients had a decreased erythrocyte membrane cholesterol level. This reduces the membrane fluidity making the erythrocyte membrane rigid and more fragile. This may be one of the factors responsible for the lyses of erythrocytes.

Acute Soft Head Syndrome in Sickle Cell Disease in Qatif Central Hospital, Saudi Arabia—Case Report and Review of the Literature

Acute soft head syndrome or sickle cell cephalohematoma is not a common sequel or complication of Sickle cell disease (SCD). Here we describe a case report of a 15-year old Saudi male with sickle cell disease who presented with generalized vaso-occlusive crisis. 48 hours post admission, he developed generalized scalp swelling which is consistent with one of the rare complications of sickle cell disease, acute soft head syndrome. The patient was treated conservatively, without aspiration of the scalp swelling. This case draws attention that acute soft head syndrome should be one of the differential diagnoses of scalp pain and swelling in patients with sickle cell disease.

Sickle cell retinopathy and systemic disease

Sickle cell disease(SCD)is a widespread hemoglobinopathy that results in significant patient morbidity and mortality.Vascular occlusion can cause acute pain,acute chest syndrome,and avascular necrosis,while hemolysis and endothelial disruption can cause ischemic stroke,leg ulcers,pulmonary hypertension,and priapism.All ocular and orbital structures can be affected by SCD ischemic events,including orbital bone infarction,ischemic optic neuropathy,retinal artery occlusion,hyphema,secondary glaucoma,sickle cell maculopathy,and sickle cell retinopathy.Proliferative sickle cell retinopathy(PSR)is the most common cause of vision loss.Untreated PSR can lead to macular ischemia,vitreous hemorrhage,and tractional retinal detachment.Ophthalmic screening exams and multimodal imaging can lead to earlier detection of sickle cell retinopathy and improved patient outcomes.SCD patients undergoing vitreoretinal surgery may require coordination of care with hematologists to avoid ischemic complications.While hydroxyurea was the only United States Food and Drug Administration approved treatment for several decades,patients with SCD now have several more treatment options.Despite the United States screening all infants for SCD,there can be delays in diagnosis and treatment.This review article aims to provide an overview of sickle disease for the ophthalmologist,and to discuss emerging treatment options and current management of SCD ocular complications.

Therapeutic gene editing strategies using CRISPR-Cas9 for theβ-hemoglobinopathies

With advancements in gene editing technologies,our ability to make precise and efficient modifications to the genome is increasing at a remarkable rate,paving the way for scientists and clinicians to uniquely treat a multitude of previously irremediable diseases.CRISPR-Cas9,short for clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9,is a gene editing platform with the ability to alter the nucleotide sequence of the genome in living cells.This technology is increasing the number and pace at which new gene editing treatments for genetic disorders are moving toward the clinic.Theβ-hemoglobinopathies are a group of monogenic diseases,which despite their high prevalence and chronic debilitating nature,continue to have few therapeutic options available.In this review,we will discuss our existing comprehension of the genetics and current state of treatment forβ-hemoglobinopathies,consider potential genome editing therapeutic strategies,and provide an overview of the current state of clinical trials using CRISPR-Cas9 gene editing.