Impact of Autoimmune Disease and Its Treatment on Adults with Sickle Cell Disease

Background: Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. Within the United States, it affects 1 in 100,000 people and 1 in 365 African American births. Management requires a comprehensive team dedicated to improving quality of life by minimizing the frequency of pain crisis, hospitalizations and infections that ultimately can reduce mortality. Susceptibility to infections among SCD patients is partly attributed to impaired host defense from chronic activation of the alternative complement pathway. This complement pathway dysregulation has also been suggested to predispose SCD patients to an array of autoimmune diseases (AID). It has been reported that the prevalence of AID in SCD teens and adults is 1.8%. The overlapping clinical manifestations and hematological abnormalities represent a challenge in diagnosing a coexisting AID among SCD patients and likely contribute to an under-reporting of its prevalence in the literature. Once coexistence is established, optimizing the management of each disease is challenging as the therapeutic treatment particularly the use of high dose steroids may exacerbate complications of SCD. The aim of this study was to assess the impact of AID and its treatment on SCD outcomes. Methods: In our retrospective review of 300 adult patients cared for in the adult SCD center from 2016-2021 we identified four patients (1.3%) who met the criteria of SCD and a confirmed diagnosis of an AID. Data that was reviewed included: age, type of SCD, type of AID, treatments of both, number of hospitalizations and ED visits and complications. Results: Four patients, all women between the ages of 38-42 years at the time of AID diagnosis, were identified. The coexisting SCD type and AID were as follows: HbSS with hereditary persistent of HbF(HPFH) and systemic lupus erythematous (SLE), HbSC and SLE with Sjogren's disease, S beta thalessemia+ and SLE with Raynaud's phenomena and HbSS with rheumatoid arthritis (RA). None of the patients were on hydroxyurea. None of the patients were treated with high dose steroids for their AID. Patient 1: HbSS/HPFH with infrequent hospitalizations for vasoocclusive pain crisis (VOC) A rash noted during her second pregnancy prompted a skin biopsy, revealing cutaneous SLE for which treatment with hydroxychloroquine (HC) was initiated. She had one admission for VOC pain crisis at 34 weeks of gestation. Her HC was discontinued prior to delivery. She had an elective C-section at 39 weeks and delivered a healthy 7 lb. baby. 6 weeks post partum she developed severe joint pains and fatigue. She experienced symptom relief with resumption of HC and a low dose prednisone (P) 10 mg. No additional immunosuppressive therapy was started as she continues to breast-feed. Patient 2: HbSC, with SLE and Sjogrens disease with frequent ED visits and admissions for VOC prior to her AID diagnosis. At AID diagnosis she was started on HC and pilocarpine resulting in a prompt reduction in ED visits for pain. She then began to experience worsening arthropathy presumed to be secondary to SLE and was started on methotrexate (MTX). She was hospitalized for community-acquired pneumonia /acute chest syndrome with pleural effusion and pulmonary infiltrates. After no response to antibiotics, she was started on P 30 mg with relief. Because of SLE flare with steroid taper and concern for high dose steroids she was started on rituximab 375 mg/m2 weekly x4. Her pulmonary infiltrates resolved. She continues to have frequent ED/admissions for pain events for VOC. Patient 3: HbSS with frequent ED/admissions for VOC prior to her diagnosis of RA, AVN and pulmonary hypertension. Her AID was treated with MTX and low dose P. Because of RA progression she started etanercept. She had 1 episode of sepsis and septic arthritis and continues to have frequent VOC. Patient 4: Sb+thalassemia with infrequent VOC diagnosed with SLE with Raynaud phenomena. She has been treated with HC without VOC but frequent urinary tract infections. Conclusion: Optimal treatment of adult patients with coexisting SCD and an AID is challenging. In this small group of patients, treatment with a variety of immunosuppressive agents other than high dose steroids, has led to control of the autoimmune disease but no clear improvement of sickle cell pain events and some atypical infections have occurred. Continued tracking of cases of SCD with AID should be done to better understand management and long term outcomes. Disclosures No relevant conflicts of interest to declare.

Successful Use of Plasma Exchange Preceding RBC Exchange in Sickle Cell Disease Hyperhemolytic Crisis with Hepatic Sequestration: A Case Report

Introduction Hyperhemolytic crisis is an uncommon complication of SCD that may cause multiorgan failure and lead to significant mortality. There are no current national or international guidelines for management of hyperhemolytic crisis and associated complications. There have been limited number of case reports and series that demonstrated utility of plasma exchange in the patients with multiorgan failure resulting from hemolysis complications (Zaidi GZ et al.,2020). We are presenting the case where hyperhemolytic crisis was complicated by hepatic sequestration and acute liver failure, that was dramatically reversed by 2 plasma exchange treatments followed by RBC exchange. Case report We present a case of a 35-year-old African American male with SCD and beta thalassemia trait with frequent hospitalizations for sickle cell pain crisis. He presented with pain typical for his acute pain crises and was admitted for intravenous hydration and pain control. The next morning, lab work showed bicytopenia with a drop in hemoglobin from 10.5 to 5.8 g/dL and platelets (PLT) from 100 to 22 X10E3/uL. Lactate dehydrogenase (LDH) increased from 434 to 2848 U/L, haptoglobin was 36 mg/dL, but disseminated intravascular coagulation (DIC) and Heparin-induced Thrombocytopenia (HIT) antibody panel were negative. The blood urea nitrogen (BUN) creatinine (Cr) ratio was also elevated (30.6) suggesting renal damage as well. He was transferred to the intensive care unit and started on Intravenous Immunoglobulin (IVIG) 0.4 grams/kilogram daily for 5 days and methylprednisolone 500 mg daily for 2 days followed by a prednisone taper. Liver enzymes continued to trend upward with AST of 19,866 U/L and ALT of 3,675 U/L on day 3 of hospitalization. Ultrasound of abdomen demonstrated mild splenomegaly with a spleen measuring 13.3 cm. The clinical presentation and hepatocellular pattern of injury was consistent with hepatic sequestration crisis. Despite receiving 1 unit of platelet 3 units of pRBC, there was little improvement and apheresis service was consulted. Plasma exchange was initiated for 2 procedures on consecutive days followed by RBC exchange with rapid improvement in clinical status and laboratory findings with a reduction of LDH (1304), AST (129), ALT (204), Hgb (8.0), PLT (41), BUN/Cr (20.0). He was discharged on day 7 at baseline status. Discussion Although the mechanism of development of hyperhemolysis in SCD is not fully understood, the hemolysis leads to release of free hemoglobin (Hb) and free heme that activate neutrophils, and vascular endothelial cells via TLR-4. This ultimately leads to inflammatory, coagulative, and cytotoxic damages and decreased nitric oxide (NO) bioavailability which further contributes to SCD complications such as pulmonary and systemic vasculopathy, pain crisis and acute chest syndrome and multi organ failure (Louie JE et al., 2018). This provides a rationale for plasma exchange - removal of free heme from the patient plasma and replenishing exhausted haptoglobin and hemopexin reserves from donor plasma. Hemolytic crisis causing visceral organ damage is relatively rare. There are no current guidelines for management of such patients. In 1996 Betrosian et al. discussed the first case of liver failure in a SCD with vasa-occlusive crisis treated with RBC and plasma transfusions (Betrosian A et al., 1996). Since then, there have been case reports/series of plasma exchange/plasma transfusions in SCD with multi organ failure (Geigel EJ et al., 1997, Louie JE et al., 2018) but reports about use of plasma exchange in SCD patients with hepatic sequestration have not been identified by our literature review. Our case demonstrates that plasma exchange in hyperhemolysis and hepatic sequestration is: Safe Leads to quick and significant improvement in hemolysis laboratory values. Results in quick and durable reversal of hepatic sequestration and associated liver failure. Adds plasma exchange as therapeutic apheresis modality in addition to previously accepted RBC exchange. Provides data about priority of plasma exchange over RBC exchange in this clinical situation. Disclosures No relevant conflicts of interest to declare.

The Effect of Individualized Pain Plans for Patients with Sickle Cell Disease on Emergency Provider Satisfaction: A Win for the Patient Can be a Win for the Provider

Background Sickle cell disease (SCD) is an inherited hematologic disorder that affects approximately 100,000 Americans and results in over 200,000 emergency departments visits annually, largely due to pain (Lanzkron et al). Delay in treatment in emergency room has been a significant barrier to patients with SCD, particularly adults. The objective of this study is to determine the effects of utilizing individualized pain plans for the treatment of vaso-occlusive crisis (VOC) on the satisfaction of healthcare providers in the emergency department (ED). Methods The Ohio State University has a comprehensive sickle cell center which creates individualized pain plans for patients who present to the ED with pain related to VOC. In January 2015, these pain plans were implemented into the electronic medical record listed in the overview of the problem sickle cell disease in each chart. In addition to creating pain plans, an interdisciplinary team was formed consisting of hematologists, pharmacists, and ED providers with the goal of education regarding SCD and the new implementation of pain plans. Surveys, using the secure web application, RedCAP, were distributed to the emergency department providers at the OSU ED. Questions included responders' role in the ED, prior experience with treating pain crisis, time to make treatment management decisions for VOC, satisfaction with treatment decision, and the providers view of their relationship with patients. Wilcoxon signed-rank test and Fisher's exact test were applied to evaluate the differences between pre and post survey numeric and categorical responses. Results Surveys were sent electronically to 170 ED providers. Sixty-nine responses, making up 40.5% of those surveyed, were obtained from 30 attending physicians, 2 fellows, 22 nurse practitioners or physician assistants, 1 registered nurse, and 14 residents. Of those who answered the survey, 14 had experience with treating pain crisis prior to the implementation of individualized pain plans. Implementation of individualized pain plans led to a reduction in median time to make treatment decisions from 5.5 to 2.5 minutes with a p-value of 0.0161. Provider satisfaction with treatment decisions improved as well (p = 0.0029) (Figure 2). In addition, ED providers felt more satisfied with their relationship with patients (p = 0.0078) (Figure 3). The majority of responders (91.2%) also rated their satisfaction with the treatment decision as either satisfied or very satisfied (Figure 1). Seventy eight percent of those answering the survey rated with relationship with patients as being good or very good (Figure 1). In terms of the ease of finding the pain plan in the electronic medical record, 91.3% of providers found them to be either very easy or easy to locate with 94.12% responding that implementing the plan was either easy or very easy (Figure 4). Regarding efficacy of the pain plans, 89.85% found the pain plans to be either effective or very effective (Figure 5). Finally, of the 36 providers who worked elsewhere, about half of the institutions from which they came did not have pain plans. Discussion The results of this study show the importance of utilizing individualized pain plans in the treatment of VOC in the ED. As shown in our prior studies, the implementation of individualized pain plans for patients with SCD resulted in a 48% decrease in time to first opioid in the ED, thereby signifying more prompt treatment (Della-Moretta et al). Not only does the data support an improvement in time to make treatment decisions, which benefit the patients, but providers also appear to view their use as an advantage. Pain plan utilization also leads to an increase in provider confidence in their treatment plans as well as a perceived improvement in patient-provider relationships. This is particularly significant as historically the relationship between emergency room staff and sickle cell patients has been seen as challenging by both patients as well emergency room providers (Haywood et al). Making patient centered individualized pain plans readily available, easily accessible, and simple to enact, can further enhance the relationship between the patient, emergency room, and the hematology team. Ongoing communication and education between all parties is beneficial. With the combination of patient and provider data, we show that a win for the patient can also be a win for the provider. Figure 1 Figure 1. Disclosures Desai: Pfizer: Other: Publication Fee, Research Funding; Novartis: Research Funding, Speakers Bureau; Global Blood Therapeutics: Honoraria, Research Funding; Foundation for Sickle Cell Research: Honoraria; Forma: Consultancy.

Sickle Cell Disease with Dermatomyositis - a Rare and Complex Comorbidity

Introduction and Case Presentation - A 4 yrs old female with sickle cell disease (SCD) and intermittent asthma presented with polyarthralgia predominantly involving bilateral hip and knee joints and became non-ambulatory over a course of 2 months. She developed chronic facial swelling, and a pruritic erythematous rash involving face, extensor surface of the hand and the right knee with significant weight loss. Physical examination was significant for heliotropic rash on the eyelids, Also present were Gottron's papules and macules on both hands and right knee along with right leg tenderness, muscle weakness, wasting and decreased range of motion at bilateral hip joints along with inguinal lymphadenopathy. Investigations were significant for severe anemia with hyperactive bone marrow, metabolic acidosis, normonatremic dehydration with absence of any evidence of an ongoing infectious process. Her Anti Nucleic acid antibody (ANA) panel, Aldolase, Rheumatoid factor and Angiotensin-1-Converting Enzyme levels were unremarkable. Creatine kinase levels were near normal. Her Neopterin and LDH levels were significantly elevated. Imaging with MRI scan with multiplanar multisequence of bilateral lower extremities and Pelvis showed significant diffuse myositis and soft tissue swelling. The diagnostic criterion for Juvenile Dermatomyositis include: (1) the typical pathognomonic rashes, (2) elevated muscle enzymes, (3) symmetric proximal muscle weakness and neck flexors, (4) muscle biopsy characteristic of juvenile dermatomyositis, and (5) EMG findings characteristic of juvenile dermatomyositis. Having ruled out an infectious process a muscle biopsy was performed, which also was subjected to Electron Microscopic (EM) analysis as the patient did not have extremely high muscle enzymes, necessitating a muscle biopsy . Hematoxylin & eosin stained sections were compatible with inflammatory myopathy. Ultrastructural examination demonstrated myofiber size variability, frequent rounded atrophic fibers with myofibrillar disarray, internalized nuclei, and increased interstitial collagen deposition. Endomysial capillaries were decreased in number, but showed reactive endothelial changes. Some showed prominent endothelial tubuloreticular inclusions (Figure),characteristic of JD. In summary, absence of serologic and tissue evidence of any other inflammatory myopathy, offending pharmacotherapy, infectious disease and presence of imaging and tissue evidence (vascular injury and tubuloreticular inclusions) comprised the work up of a child with SCD with Dermatomyositis. Management- Prompt treatment with prednisone (2 mg/kg/day), methotrexate (10 mg) weekly and monthly IVIG (2gm/kg/dose) infusions was started, once diagnosis was confirmed showing a dramatic clinical response. Prednisone was slowly tapered after 1 month of treatment. She showed gradual improvement in her symptoms, the strength in proximal muscle in both upper and lower limbs improved eventually to a point where the contractures in the elbows and knees improved and she started ambulating without support. Patient's Hydroxyurea was restarted at a low dose of 15mg/kg/day and increased to 20 mg/kg/day slowly, as her systemic symptoms of Dermatomyositis subsided. Discussion- Working up a child with SCD who presents with sudden onset non weight bearing can be complicated. Vaso-occlusive bony pain crisis , Osteomyelitis , septic arthritis are common clinical scenarios, but an underlying rheumatologic illness in pediatric SCD patient mimicking a sickle cell pain crisis presents a unique diagnostic challenge one which, albeit has been reported in literature, but rarely includes electron microscopic ultrastructural examination as part of evidence and work up. This patient's relatively mild muscle enzyme elevation and Hydroxyurea therapy made the initial diagnosis more challenging. We present the first pediatric SCD patient with clinically and pathologically proven case of Dermatomyositis with EM evidence, highlighting a unique clinical scenario ,diagnostic challenges and management strategies. Figure 1 Figure 1. Disclosures Jain: Octapharma: Consultancy; CSL Behring: Consultancy, Speakers Bureau; GBT: Consultancy; Blue Bird Bio: Consultancy; Takeda: Consultancy, Speakers Bureau.

Complement Activation during Vaso-Occlusive Pain Crisis in Pediatric Sickle Cell Disease

Background: Sickle cell disease (SCD) affects millions of individuals worldwide with substantial morbidity and mortality. The sickle hemoglobin (HbS) polymerizes upon deoxygenation, causing rigid and adhesive red blood cells (RBCs), triggering vascular occlusion, greatly shortened RBC lifespan, and chronic hemolysis. Amongst acute complications in SCD, vaso-occlusive pain crisis (VOC) is the leading cause of hospitalization, with supportive care being the primary approach to management. We and others have recently demonstrated important contributions of complement to the pathophysiology of SCD. When the complement pathway (CP) is activated during SCD crises, inhibition at C5 using eculizumab, has been successful in treating various acute complications in SCD (Chonat et al, Haematologica). In this study, we prospectively analyzed the extent of CP activation among children with SCD presenting with VOC. Methods: Patients aged 0-21 years old managed at Children's Healthcare of Atlanta with homozygous sickle cell (SS) or S beta zero thalassemia genotypes were enrolled in an IRB-approved research study. Inclusion criteria included those requiring intravenous opioids for VOC, and excluded those with chronic pain, >6 VOC admission in the previous 12 months or on chronic transfusions. Blood samples were collected within 48 hours of VOC presentation, and steady-state levels were obtained at a 4-week clinic follow-up. Data was analyzed using a paired t-test, and receiver operator characteristic (ROC) curves were generated comparing intra-person complement levels during acute VOC versus respective steady-state levels. Results: Sixty-four patients have been enrolled thus far, of which 43 (67%) had steady-state samples collected. The majority of patients (90.5%) have SS genotype with a mean (SD) patient age of 14.15 (4.68) years. Fifty-three (84.1%) patients reported taking hydroxyurea (HU). Fifty-nine (93.7%) patients had at least one VOC admission in the past 12 months, with an average of 2.98 (1.67) VOC admissions. Pain Score reported on 55 patients averaged 4.93 (4.78) on a pain scale of 0 to 10. Mean values during VOC and steady-state of hemoglobin (Hb) were 8.12 and 9.01 g/dL, platelet count 431 and 511, and lactate dehydrogenase (LDH) 549 and 483 U/L, respectively. Seventeen patients had complement work-up performed during acute and steady-state, and 4 of them had additional samples collected during subsequent VOC. Complement protein levels C3, C4, C5, properdin, factor B, and complement regulatory proteins factor H and I were unremarkable during VOC and steady-state. However, complement activation markers, specifically anaphylatoxins C3a, C5a and Bb were significantly elevated during VOC compared to steady-state (see Table 1) suggesting activation of alternative CP during VOC (see Table 1 and Figure 1A-C). Terminal complement complex (C5b9) was not statistically different between VOC and steady-state (Figure 1D, red dotted lines signify normal ranges). Remarkably, patients who re-presented with acute VOC exhibited similar increases in their C3a/C5a (Figure 1E-F), substantiating the increases related to their VOC. Hemoglobin and LDH (Figure 1G-H) were similarly significant, suggestive of intravascular hemolysis. Three (7.1%) patients developed acute chest syndrome, two of whom experienced respiratory failure requiring intensive care management, and all exhibited significant CP activation. The area under the curve (AUC) of the ROC curve was analyzed to determine the ability of complement biomarkers to differentiate VOC from steady-state. Based on the AUC of these biomarkers, complement anaphylatoxins C3a and C5a exhibited the highest AUC of 0.76 and 0.87, respectively. Discussion: To our knowledge, this is the first prospective and comprehensive evaluation of CP in patients with SCD during VOC and steady-states. These preliminary findings suggest CP activation is present in a large proportion of patients during VOC, with increased activation of alternative and common CP, associated with intravascular hemolysis. Minimal increase in C5b9 could be explained by a significant proportion (> 80%) of our patients being on HU therapy, similar to prior data (Roumenina et al, AJH). Specifically, C3a/C5a, along with other biomarkers, could not only predict disease activity in patients during VOC, but provide pharmacological targets in VOC, which need further validation. Figure 1 Figure 1. Disclosures Stowell: Alexion: Consultancy; Argenx: Speakers Bureau; Grifols: Speakers Bureau. Chonat: Alexion: Consultancy, Research Funding; Agios: Consultancy, Research Funding; Novartis: Consultancy, Research Funding; Global Blood Therapeutics: Consultancy, Research Funding; Takeda: Consultancy, Research Funding.

Pediatric Sickle Cell Disease and the COVID-19 Pandemic: A Year in Review at Children's National Hospital

Background: Over the past year, COVID-19 was declared a global pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) resulting in over 100 million cases and >3 million deaths worldwide according to the World Health Organization (WHO). Morbidity and mortality have been highest in adults, particularly in those with underlying conditions including hypertension, diabetes, and obesity. Children, thus far, have largely remained either asymptomatic or presented with mild symptoms. However, sickle cell disease (SCD) was classified as a risk factor for severe COVID-19 disease in both adults and pediatric patients. Objective: To describe the one-year experience of the clinical course, management, and treatment of COVID-19 in children, and young adults with SCD at Children's National Hospital (CNH). Methods: This was a single-center, observational cohort study of 55 children (age <18 years) and young adult (age ≥ 18 years) patients with SCD and PCR confirmed SARS-CoV-2 infection at CNH between March 31, 2020, and February 12, 2021 (Figure 1A). Results: Sixty-nine percent were children (N=38) and 31% were young adults (N=17). The mean age was 11.6 years with 51% females (N=28) and 49% males (N=27). Seventy-five percent of cases were Hgb SS, 15% Hgb SC, and 11% Hgb SBeta Thalassemia Zero (Table 1). Fever (45%) was the most common presenting symptom; only 9% had a loss of taste or smell (Figure 1B). Twenty-two percent were asymptomatic at presentation. Among the 40 patients who presented to the emergency department (ED) or were hospitalized, 50% (N=20) presented with vaso-occlusive pain crisis (VOC), 42% with Acute Chest Syndrome (ACS), 2% with splenic sequestration, and 2% with Venous Thromboembolism. Only 3% were admitted to the ICU (N=2 young adults, N=1 children); none of whom were on hydroxyurea. There were no differences in hospitalization rates between Hgb SS and Hgb SC patients (Table 1). Lower oxygen saturation (02 Sat)(02 Sat <95%: 62% vs 16% p=0.004), fevers (69% vs 16%, p=0.001), VOC pain crisis (50% vs 24%, p=0.047), and ACS (65% vs 3%, p<0.001) were more common in hospitalized patients vs. non-hospitalized patients. Patients with ACS experienced a longer length of stay (6 days vs. 3 days p=0.008), lower oxygen saturation (02Sat<95%: 81% vs 13% p<0.001), higher white blood cell count (13.3 vs 9.0 K/mcL, p=0.009), lower hemoglobin nadir (6.8 vs. 9.6 gm/dL, p= 0.049), and elevated D-dimers (4.1 vs. 0.8 ug/mL, p=0.002) compared to those without ACS. The types of treatment received by patients requiring hospitalization or ED visits included ceftriaxone (N=28, 70%), azithromycin (N=15, 37.5%), remdesivir (N=6,15%) convalescent plasma(N=1,2.5%). Blood transfusion was required in 29% of the 55 SCD COVID-19 cases (N=16) and 76% (N=13) of the ACS patients. Twenty-six percent (N=17) of hospitalized patients were anticoagulated with either enoxaparin or rivaroxaban according to CNH's COVID-19 anticoagulation treatment protocol. There were similar rates of healthcare utilization, SCD modifying therapies, acute COVID-19 clinical presentation, respiratory support, and laboratory findings (hematologic, inflammatory) between the children and young adults. However, young adults were more likely to be on crizanlizumab treatment (18% vs 0%, p=0.026) and have an elevated D-Dimer (4.0 vs 1.0, p=0.012) on laboratory evaluation. Conclusion: Our case series reveals that the demographics and clinical presentation between our SCD children and young adult patients with COVID-19 were similar overall. While the morbidity was high, there was no mortality. Those that were hospitalized had lower oxygen saturation levels, higher incidences of fever, and higher morbidity presenting with VOC and ACS. Patients with ACS and/or an oxygen requirement had significantly higher WBC count, lower nadir hemoglobin, and higher D-dimers in a small subset of patients supporting a pro-inflammatory and coagulopathic picture. Our study will add to a growing body of literature on SCD COVID-19 cases. Figure 1 Figure 1. Disclosures Darbari: Global Blood Therapeutics: Consultancy; Hilton Publishing Inc.: Consultancy; Novartis: Consultancy. Majumdar: Asklepion Pharma: Consultancy, Patents & Royalties: IV L-Citrulline in the use of sickle cell pain crisis. Campbell: Novartis Pharmaceuticals Corporation: Consultancy, Research Funding.

Impact of COVID 19 on the quality of life OF LIFE (QoL) of patients living with Sickle Cell Disorder (SCD) in Lagos Nigeria

The study aimed to assess the impact of the COVID-19 pandemic on Quality of Life (QoL) in persons living with Sickle Cell Disorder (SCD) in Lagos, Nigeria and to determine how they coped during the pandemic, particularly during the period of total lockdown with the additional SHIELDING measures to which they had to adhere. Data was collected using a standardized protocol PedsQL, Sickle Cell Disease Module version 3, designed for youth within the ages of 13 to 18 years and 19 to 35 years and their parents and guardian if underage. The survey captured data on patients pain impact, hurts, management, treatments, communication with their caregivers and their guardians perception. The survey was performed online, or face to face and telephone interview if online was not possible. Contacts of patients and parents were obtained from the database of Sickle Cell Foundation Nigeria. A total of 105 (80 patients and 25 parents) participants responded to the survey. The age distribution of respondents was highest at 56 percent in the age bracket of 13 to 18 years old. Pain crisis were very common amongst patients. The survey revealed that the type of treatment or care received at these times determined whether or not the patients visited the hospital when they had pain crises. In addition, as patients reports an increase in ill treatment they experienced in the hands of health care givers, so did the fear of accessing treatment during the COVID pandemic. It was observed that the frequency of pain crises experienced by SCD patients was proportional to the patients quality of life (the higher the frequency of pains, the worse the QoL). As a follow-up, a more detailed study would be required, as this study was limited in the capturing of the demographics, sex and number of participants; Considering the number of persons living with SCD that visit the Sickle Cell Foundation Nigeria, (approx. 3,000 patients), the number of responses in this study was low (105). It is believed that a higher number of responses would have given more information about the Sickle Cell burden and the QoL of persons living with SCD in Lagos during the COVID-19 pandemic. Lagos was the epicentre of the COVID-19 pandemic in Nigeria.

Diagnosis patterns of sickle cell disease in Ghana: a secondary analysis

Background Despite having the highest prevalence of sickle cell disease (SCD) in the world, no country in Sub-Saharan Africa has a universal screening program for the disease. We sought to capture the diagnosis patterns of SCD (age at SCD diagnosis, method of SCD diagnosis, and age of first pain crisis) in Accra, Ghana. Methods We administered an in-person, voluntary survey to parents of offspring with SCD between 2009 and 2013 in Accra as a part of a larger study and conducted a secondary data analysis to determine diagnosis patterns. This was conducted at a single site: a large academic medical center in the region. Univariate analyses were performed on diagnosis patterns; bivariate analyses were conducted to determine whether patterns differed by participant’s age (children: those < 18 years old whose parents completed a survey about them, compared to adults: those > = 18 years old whose parents completed a survey about them), or their disease severity based on SCD genotype. Pearson’s chi-squared were calculated. Results Data was collected on 354 unique participants from parents. Few were diagnosed via SCD testing in the newborn period. Only 44% were diagnosed with SCD by age four; 46% had experienced a pain crisis by the same age. Most (66%) were diagnosed during pain crisis, either in acute (49%) or primary care (17%) settings. Children were diagnosed with SCD at an earlier age (74% by four years old); among the adults, parents reflected that 30% were diagnosed by four years old (p < 0.001). Half with severe forms of SCD were diagnosed by age four, compared to 31% with mild forms of the disease (p = 0.009). Conclusions The lack of a robust newborn screening program for SCD in Accra, Ghana, leaves children at risk for disease complications and death. People in our sample were diagnosed with SCD in the acute care setting, and in their toddler or school-age years or thereafter, meaning they are likely being excluded from important preventive care. Understanding current SCD diagnosis patterns in the region can inform efforts to improve the timeliness of SCD diagnosis, and improve the mortality and morbidity caused by the disease in this high prevalence population.