Management Of Sickle Cell Disease Research Articles

Psychosocial risk and health care utilization in pediatric sickle cell disease.

Pain and complications related to pediatric sickle cell disease (SCD) are associated with higher health care utilization. In other pediatric chronic conditions, psychosocial screening can help identify children and families at risk of increased health care utilization to guide resource allocation, address treatment needs, and improve care. This study aimed to investigate the utility of psychosocial screening in predicting increased health care utilization among youth with SCD. Youth with SCD (n=74, 8-18years) and their parents were recruited from comprehensive SCD clinics. Parents completed the Psychosocial Assessment Tool (PAT), which categorized family psychosocial risk into one of three categories: Universal (minimal distress), Targeted (elevated distress), and Clinical (persistent distress). Youth reported on their pain characteristics, and health care utilization was extracted from medical chart review. Differences in health care utilization were evaluated using analysis of variance (ANOVA) and moderation analyses. Based on PAT risk, families were categorized into Universal (56.8%), Targeted (29.7%), and Clinical (13.5%) risk groups, with no significant group differences across demographic variables. Patients in the Targeted group reported significantly higher pain frequency than those in the Universal group (F[2, 66]=3.7, p<.05). The association between pain frequency and health care utilization significantly varied on the basis of psychosocial risk, such that Clinical psychosocial risk strengthened the connection between pain frequency and health care utilization (β=.2, t=2.1, p<.05). Integrating the PAT into routine clinical care may help health care providers identify families in need of greater psychosocial or medical support to further optimize SCD management.

"It Is Not Easy": Cultural Influences of Sickle Cell Disease Management in Rural, Eastern Sierra Leone.

Sickle cell disease (SCD) is a chronic genetic disease that causes life-threatening complications and requires robust comprehensive management. Developing comprehensive SCD programs in sub-Saharan African countries requires knowledge of the cultural factors affecting health-seeking behavior. We utilized an ethnographic approach and the frameworks of Dutta and Habermas to explore cultural factors influencing SCD management in rural Sierra Leone. A purposive sample of 27 individuals with SCD and their family and professional caregivers were observed and interviewed from March 2019 to April 2019. We identified four domains (Cultural Beliefs, Cultural Values, Cultural Practices, and Dealing with SCD) of cultural influences on SCD management, and 12 sub-themes (related to collectivism; spiritual, traditional, and Western beliefs and practices; and lived experiences) that reflect the personal, social, structural, and contextual complexities of SCD management. Further research regarding roles of traditional and spiritual leaders, combinations of Western and traditional practices, and culturally centered interventions is warranted.

Utilization of Pneumococcal Vaccine and Penicillin Prophylaxis in Sickle Cell Disease in Three African Countries: Assessment among Healthcare Providers in SickleInAfrica

Sickle cell disease is a genetic disease with a predisposition to infections caused by encapsulated organisms, especially Streptococcus pneumoniae. Pneumococcal vaccines and prophylactic penicillin have reduced the rate of this infection and mortality in sickle cell disease. However, implementation of these interventions is limited in Africa. The objectives of the study were to assess health care providers’ behaviors with the implementation of pneumococcal vaccination and penicillin prophylaxis and to identify barriers to their use. A 25-item online questionnaire was administered through SickleinAfrica: a network of researchers, and healthcare providers, in Ghana, Nigeria, and Tanzania, working to improve health outcomes of sickle cell disease in Africa. Data was collected and managed using the Research Electronic Data Capture (REDCap), tools and data analysis was done using STATA version 13 and R statistical software. Eighty-two medical practitioners responded to the questionnaire. Only 54.0 and 48.7% of respondents indicated the availability of published guidelines on sickle cell disease management and pneumococcal vaccine use, respectively, at their facilities. The majority (54.0%) perceived that the vaccines are effective but over 20.0% were uncertain of their usefulness. All respondents from Ghana and Tanzania affirmed the availability of guidelines for penicillin prophylaxis in contrast to 44.1% in Nigeria. Eighty-five percent of respondents affirmed the need for penicillin prophylaxis but 15.0% had a contrary opinion for reasons including the rarity of isolation of Streptococcus pneumoniae in African studies, and therefore, the uncertainty of its benefit. Lack of published guidelines on the management of sickle cell disease and doubts about the necessity of prophylactic measures are potential barriers to the implementation of effective interventions.

Use of trans‐3′5'4‐trihydroxystilbene (Resveratrol) as an adjunct in the treatment of Sickle Cell Disease

Sickle Cell Disease (SCD) and □-thalassemia are among the most common forms of hemoglobinopathy and life-threatening genetic diseases worldwide. So far, the only approved drug for these disorders is the ribonucleotide reductase inhibitor hydroxyurea (HU) falls short of being curative. The efficacy of HU in the management of thalassemia and SCD is generally attributed to its limited ability to boost the levels of fetal hemoglobin (Hb F,α2γ2), which decreases sickling by interfering with the polymerization of hemoglobin in patients with SCD and can partially correct the globin chain imbalance in □-thalassemia patients, while at the same time facilitating O2 transport to myoglobin in peripheral tissues. The naturally occurring dietary polyphenol resveratrol (trans-3′5'4-trihydroxystilbene, RV), has also been postulated to induce Hb F production via a biochemical mechanism like HU. Preclinical studies using the human erythroleukemic K562 cell line suggested RV can induce Hb F production in a more robust manner than HU. However, clinical studies on the efficacy and effectiveness of RV are limited and conflicting. This study sought to evaluate the clinical efficacy and safety of RV in managing SCD compared to HU. A systematic literature review was conducted in peer-reviewed, published full-text articles investigating RV in the management of SCD. Eligible studies were required to report explicitly, including participants diagnosed with β-thalassemia or SCD anemia or cultured cells with the SCD or thalassemia disease and where HU was included as a control. The analysis included thalassemia, RV type, RV dosage, duration of treatment, and outcome, Hb F induction and antioxidant activity. Additionally, a pilot study of RV in the management of adults with SCD who received treatment at National Hospital Abuja, Nigeria, was attempted but discontinued due to the COVID 19 pandemic. A case study of a single 23-year-old female SCD patient who had been taking RV [1000mg daily p.o.] for more than 6 years was included. Outcome variables evaluated include number of hospitalization episodes of pain crisis, need for blood transfusion, possible side effects and RBC indices. The early results of this metanalysis show that RV was as effective as HU in inducing production of Hb F in adult SCD patients and reducing hospital treatment days post RV treatment. Four primary treatment and curative therapies that have shown great potential and are currently used to prevent and treat acute and chronic complications in SCD, HU and blood transfusions, are the most well-established disease-modifying therapies used to prevent and treat complications associated with SCD. Other lesser used therapies include stem cell transplantation or the allogeneic hematopoietic stem cell transplant (HSCT), and the investigational gene therapy is the only known curative therapy that exists regarding SCD. The results of this study indicate that RV is an effective inducer of Hb F production in adults and shows promise as a cost effective and useful adjunct for the treatment of hemoglobinopathies including SCD and thalassemia.

The Potential of mHealth as a Game Changer for the Management of Sickle Cell Disease in India.

Sickle cell disease (SCD) is a chronic genetic disease that requires lifelong therapy and monitoring. Low drug adherence and poor monitoring may lead to an increase in morbidities and low quality of life. In the era of digital technology, various mobile health (mHealth) apps are being tested for their potential in increasing drug adherence in patients with SCD. We herewith discuss the applicability and feasibility of these mHealth apps for the management of SCD in India.

Hydroxyurea for the Management of Sickle Cell Disease: Assessment of Effectiveness and Side Effects

Hydroxyurea for the Management of Sickle Cell Disease: Assessment of Effectiveness and Side Effects

Maternal and perinatal outcomes in pregnant women with sickle cell disease: an update

IntroductionThe aim of this study was to describe maternal and perinatal outcomes in pregnant women with sickle cell disease (SCD) followed at Santa Casa de Sao Paulo over a 10-year period (between 2010 and 2019). MethodFifty-five records of pregnancies were analyzed among 35 women with SCD. ResultsAmong 29 newborns, 19 (65.5%) were full-term and 10 pre-term; 24 (82.7%) caesareans and 5 (17.2%) natural births were observed. The mean gestational age at birth and mother`s age were 36.6 weeks (30–40) and 26.7 years (17–39), respectively. No maternal death was observed. The main maternal obstetric and non-obstetric complications were: pre-eclampsia and gestational diabetes, and vaso-occlusive crisis, urinary tract infection and acute chest syndrome, respectively. Twenty-six (47.0%) fetal deaths were observed, 24 being intrauterine fetal (14 early abortions, 10 late abortions and 2 stillbirths). Regarding the red blood cell transfusion history, 40 (72.7%) out of 55 pregnancies received transfusion. Pregnant women who received 6 or more transfusions throughout pregnancy had a significantly lower number of abortions, i.e., no cases of early abortion and only 1 case of late abortion, versus 14 and 9 cases in pregnancies with 0–5 transfusions, respectively. Despite advances in the management of SCD, pregnant women with SCD (particularly those with HbSS) are at a high risk for maternal and fetal complications, even though they are followed in reference centers. ConclusionThe lower risk of intrauterine fetal death for those women who received more transfusions throughout pregnancy observed in the current study leads us once more to raise the need for prospective, multicenter, randomized trials to determine whether the potential benefits balance the risks of prophylactic transfusions.

Impact of Ketamine in the Management of Painful Sickle Cell Disease Vaso-Occlusive Crisis.

The aim of the study is to determine if ketamine infusions in combination with opioid therapy for the management of sickle cell disease (SCD) presenting with vaso-occlusive crisis (VOC) resulted in a length-of-stay difference compared to when ketamine was not utilized. This single center, retrospective, observational study performed at an academic medical center evaluated 12 adult patients with SCD-VOC who received a ketamine infusion with standard opioid therapy between 2014 and 2017. Patients were excluded if the primary diagnosis was not VOC or they did not survive to discharge. Additionally, safety and oral morphine equivalents at various time points were compared. Patients were used as their own control using the previous SCD-VOC hospitalization to evaluate the relative impact of ketamine. Wilcoxon signed-rank and rank sum were used in statistical analysis. When comparing opioid doses during the ketamine infusion, a P-value <.005 was considered statistically significant to account for multiple comparisons. The median length-of stay when ketamine was employed was similar to the previous admission with only opioid therapy (12 vs 12 days, P = .317). The median opioid dose 24 hours prior to starting ketamine was greater than during the first 24 hours of ketamine use (1278 vs 1020 mg, P = .022) and 24 hours after stopping ketamine (1278 vs 1035 mg, P = .014); however, this was not statistically significant. During 5 ketamine infusions, patients experienced side effects; however, only 1 necessitated transfer to the intensive care unit. Compared to standard opioid therapy, ketamine infusions were generally well tolerated and may be effective at reducing opioid use during SCD-VOC but did not decrease hospital length-of-stay.

Anti-sickling activities of two isolated compounds from the root of Combretum racemosum P. beauv. (Combretaceae)

Ethnopharmacological relevanceEvaluation of plants such as Combretum racemosum with claimed traditional use in the management of sickle cell anaemia in Nigeria and other parts of West Africa could serve as a useful research strategy in the search for potential anti-sickling drugs and templates.Aim of the study: This study aimed at evaluating the antisickling potential of C. racemosum by activity-guided purification and isolation of its active constituents. Materials and methodsCrude methanol extract of the root of C. racemosum and the fractions obtained by partitioning with chloroform, ethyl acetate, and aqueous were investigated for anti-sickling activity against sodium metabisulphite induced sickling of sickle cell haemoglobin (HbSS). Repeated chromatographic separations were conducted on the most active chloroform fraction to purify and isolate bioactive compounds for further tests for anti-sickling activity. The characterization of the isolated compounds was done by mass spectrometry (FD+MS) and nuclear magnetic resonance (1HNMR) spectroscopy. ResultsThe chloroform fraction (FA) (% sickled erythrocyte ranged from 3.0 to 34.1) exhibited better anti-sickling activity than aqueous (% sickled erythrocyte ranged from 38.9 to 51.5) as well as the crude methanol (% sickled erythrocyte ranged from 19.1 to 30.4). Hence, the phytochemical investigation was focused on the chloroform fraction, which led to the identification of two ellagic acid derivatives (3,3′,4′-tri-O-methyl ellagic acid (A) and 3,3′-di-O- methyl ellagic acid (B). The two isolated compounds possessed good, comparable anti-sickling activities with compound A exhibiting a slightly better in vitro activity. ConclusionThis paper reports for the first time anti-sickling principles from C. racemosum and therefore, provided some justification for the ethnomedicinal use of the plant in the management of sickle cell disease.

Observation of Causes of Death from Sickle Cell Anemia in Niger

Purpose: Improve the management of Major Sickle Cell Syndromes (SDM) by studying the circumstances in which patients affected by this disease die in Niger. Methods: This was a retrospective study of descriptive and analytical type in sickle cell patients followed at the National Sickle Cell Reference Center (CNRD) in Niamey with a follow-up file, who died during our study period, which was 9 years (January 1, 2010 to December 31, 2018). Results: During the study period, 6,465 sickle cell patients were followed up at the CNRD, 249 deaths were recorded, representing a frequency of 3.8%. There is a male predominance with a sex ratio of 1:3. The 0-15 age group was the most represented with 34.5% with an average age of 9.25 years. 34.1% of the patients came from a consanguineous marriage. Of the 249 deaths, 94% (n=234) were SS, 5.6% (n=14) were SC and 0.4% (n=1) was S/β. The majority of patients died at the time of registration, i.e. 58.25% (n=145 (SS=137. SC=8.)). 90.4% had died in a health-care facility. The main cause of death was anemia in 73.1% of cases. Conclusion: The management of sickle cell disease requires adequate preventive action to reduce the rate of early mortality.

Effect of Rhynchospora corymbosa and Olax subscorpioïdea two plants used in the management of Korhogo sickle cell disease

Sickle cell disease is the first genetic disease in the world. Rhynchospora corymbosa and Olax subscorpioïdea are two plant species used in traditional management of sickle cell disease in the department of Korhogo. After a chemical study of the decocted and the aqueous extract of these two plants, their effect on the in vitro reversal of sickling of HbSS genotype erythrocytes, has been evaluated according to Emmel method. An abundance of alkaloids, tannins, saponins, polyterpenes and sterols was found in the decocted and aqueous extract of Rhynchospora corymbosa (DRC and MRC). As for the decocted and aqueous extract of Olax subscorpioïdea (DOSA and MOSA), polyphenols, leucoanthocyanins and flavonoids were found in addition to the chemical compounds identified in Rhynchospora corymbosa. At the concentration of 0.312 mg/mL DRC, MRC DOSA and MOSA have obtained the reversal rate of 75, 50, 80 and 80% respectively. All four extracts demonstrated activity on in vitro reversal of sickle cells. This activity could be caused by the presence of chemical groups that would be used in the treatment of several diseases because of their anti-oxidant and anti-inflammatory properties. Rhynchospora corymbosa and Olax subscorpioïdea are both an effect on the in vitro sickling reversal. Their use in the management of sickle cell disease in northern Côte d'Ivoire might be justified.

Mineral Composition of Medicinal Plants Traditionally Used in the Management of Sickle Cell Disease in the Kwilu Province (Congo-Kinshasa)

The aim of this study was to determine the mineral composition of 10 plants especially Alchornea cordifolia, Alternanthera bettzickiana, Annona senegalensis, Cyttaranthus congolensis, Dissotis brazzae, Justicia secunda, Harungana madagascariensis, Hura crepitans, Hypoxis angustifolia and Vigna unguiculata used in the management of sickle cell disease by traditional practitioners in Kwilu Province. The Plants collection was done at Kwilu province, sample were evaluated through fluorescence spectrometric analysis. These plants were harvested in Kwilu province in the Democratic Republic of Congo The mineral composition analysis was carried out using the fluorescence spectrometric method. This study revealed presence of Twenty-three (23) mineral elements, in each of these plants among others: Potassium (K), Phosphorus (P), Calcium (Ca), Sodium (Na), Magnesium (Mg), Sulphur (S), Chlorine (Cl) and trace elements such as: Aluminum (Al), Silicon (Si), Vanadium (V), Chromium (Cr), Manganese (Mn), Iron (Fe), Nickel (Ni), Copper (Cu), Zinc (Zn), Selenium (Se), Bromine (Br), Molybdenum (Mo), Tin (Sn), Iodine (I), Barium (Ba) and Lead (Pb). Iron, Zinc (Zn), Selenium (Se), Copper (Cu), Calcium (Ca), Magnesium (Mg) and Manganese (Mn) are mineral elements that are related to sickle cell disease. Of all these elements, Potassium and Calcium were in a higher content while Lead, Tin, Bromine, Copper and Nickel are in trace amounts. The correlation coefficients obtained between the mineral elements are significant. The presence of some mineral elements like Fe, Zn, mg and Se can be useful for sickle cell disease patients.

Réalités pour une stratégie de lutte contre la drépanocytose dans la région africaine de l’Organisation Mondiale de la Santé

RésuméLe Réseau d’Étude de la Drépanocytose en Afrique Centrale ou REDAC, est un réseau de chercheurs africains, européens et américains qui a comme objectif la lutte contre la drépanocytose. Ses congrès se déroulent chaque année dans les pays partenaires avec des symposium internationaux qui alternent avec des ateliers de travail. Le REDAC permet aux pays hôtes d’obtenir des autorités locales une réelle implication dans la lutte à travers des résolutions en phase avec les stratégies nationales de lutte. Le Septième Symposium International du REDAC s’est tenu en 2018 à Antananarivo, Madagascar sous l’égide du Ministre Malgache de la Santé, et des Autorités Malgaches du Sénat. Le thème choisi était celui des stratégies de lutte contre la drépanocytose recommandées par l’OMS. Les communications ont porté sur le dépistage néonatal, le diagnostic précoce, la prise en charge du drépanocytaire et les nouvelles thérapeutique (greffe de moelle, thérapie génique, et traitement par l’hydroxyurée).

Evidence-based interventions implemented in low-and middle-income countries for sickle cell disease management: A systematic review of randomized controlled trials.

BackgroundDespite ~90% of sickle cell disease (SCD) occurring in low-and middle-income countries (LMICs), the vast majority of people are not receiving evidence-based interventions (EBIs) to reduce SCD-related adverse outcomes and mortality, and data on implementation research outcomes (IROs) and SCD is limited. This study aims to synthesize available data on EBIs for SCD and assess IROs.MethodsWe conducted a systematic review of RCTs reporting on EBIs for SCD management implemented in LMICs. We identified articles from PubMed/Medline, Global Health, PubMed Central, Embase, Web of Science medical subject heading (MeSH and Emtree) and keywords, published from inception through February 23, 2020, and conducted an updated search through December 24, 2020. We provide intervention characteristics for each study, EBI impact on SCD, and evidence of reporting on IROs.Main results29 RCTs were analyzed. EBIs identified included disease modifying agents, supportive care agents/analgesics, anti-malarials, systemic treatments, patient/ provider education, and nutritional supplements. Studies using disease modifying agents, nutritional supplements, and anti-malarials reported improvements in pain crisis, hospitalization, children’s growth and reduction in severity and prevalence of malaria. Two studies reported on the sustainability of supplementary arginine, citrulline, and daily chloroquine and hydroxyurea for SCD patients. Only 13 studies (44.8%) provided descriptions that captured at least three of the eight IROs. There was limited reporting of acceptability, feasibility, fidelity, cost and sustainability.ConclusionEBIs are effective for SCD management in LMICs; however, measurement of IROs is scarce. Future research should focus on penetration of EBIs to inform evidence-based practice and sustainability in the context of LMICs.Clinical trial registrationThis review is registered in PROSPERO #CRD42020167289.

Automated Red Cell Exchange in the Management of Sickle Cell Disease.

Red cell transfusion represents one of the cornerstones of the chronic management of sickle cell disease, as well as its acute complications. Automated red cell exchange can rapidly lower the number of circulating sickle erythrocytes, without causing iron overload. Here, we describe our experience, having offered this intervention since 2011. A transient reduction in the platelet count by 61% was observed after the procedure. This was not associated with any haemorrhagic complications. Despite exposure to large volumes of blood, the alloimmunisation rate was only 0.027/100 units of red cells. The absence of any iron loading was confirmed by serial Ferriscans, performed over a number of years. However, patients with advanced chronic kidney disease showed evidence of iron loading due to reduced innate haemopoiesis and were subsequently switched to simple transfusions. A total of 59% of patients were on regular automated red cell exchange with a history of recurrent painful crises. A total of 77% responded clinically, as evidenced by at least a 25% reduction in their emergency hospital attendance for pain management. The clinical response was gradual and increased the longer patients stayed on the program. The earliest sign of clinical response was a reduction in the length of stay when these patients were hospitalised, indicating that a reduction in the severity of crises precedes the reduction in their frequency. Automated red cell exchange also appeared to be beneficial for patients with recurrent leg ulcers and severe, drug resistant stuttering priapism, while patients with pulmonary hypertension showed a dramatic improvement in their symptoms as well as echocardiographic parameters.

Integrative holistic approaches for children, adolescents, and young adults with sickle cell disease: A single center experience

ContextPainful vaso-occlusive crises (VOCs) associated with sickle cell disease (SCD) are the most common cause of morbidity, hospitalizations, and poor quality of life. Additional symptoms such as sleep disturbances, fatigue, and stress are also common. Non-traditional approaches are often used by families, but concerns remain that patients may forgo standard of care effective therapies in favor of dangerous unproven alternatives. ObjectivesTo describe a single center experience related to a multidisciplinary integrative medicine clinic within the division of hematology dedicated to children and young adults with SCD. MethodsThe Sickle Cell Integrative Clinic at Children’s National Hospital services patients with SCD. The main goal of this clinic is to provide access to non-pharmacologic interventions, and to manage patients’ symptoms in a holistic manner along with standard of care management of SCD. This IRB approved study evaluated experiences of both patients and parents who attended this clinic. ResultsThirty-seven unique patients attended this clinic over 2 years and 31 participated in the study. After attending the SCD integrative clinic, the majority of patients reported integrative therapies to be an acceptable way of treating pain and believed these to be effective. Overall, the vast majority (88 %) of patients reported having a positive experience with the therapies offered in the clinic. None of the patients experienced any adverse events related to integrative therapies provided in the clinic. ConclusionOur experience suggests that encouraging conversations and offering safe and potentially effective integrative therapies alongside conventional SCD therapies under medical guidance allows patients to have an open discussion about their beliefs and treatment goals, improves patient satisfaction and can improve outcomes.

Co-Occurrence of Neurodevelopmental Disorders in Pediatric Sickle Cell Disease.

The objective of this study is to retrospectively determine the co-occurrence, associated characteristics, and risk factors for neurodevelopmental disorders (NDD) in a pediatric sickle cell disease (SCD) clinic population. We investigated the co-occurrence and features of NDD in pediatric SCD through a retrospective cohort study conducted between July 2017 and January 2019. The participants were patients with SCD younger than 18 years of age identified from our institutions' clinic rosters and medical records databases. A total of 276 participants were eligible for study inclusion, and 65 participants were found to have various NDD. Children with SCD and NDD were more likely to have a history of multiple SCD-related complications in comparison to children with SCD without NDD. Children with SCD and NDD were more likely to use disease-modifying therapies in comparison to children with SCD without NDD (χ2 27.2, p < 0.001). Children with SCD and NDD have higher odds of having certain disease-related complications and higher use of disease-modifying treatments than children with SCD who do not have NDD. Screening and diagnoses of NDD may be relevant to clinical management of pediatric SCD.

Parental Psychosocial Distress in Pediatric Sickle Cell Disease and Chronic Pain.

Pediatric sickle cell disease (SCD) management can result in considerable caregiver distress. Parents of youth with chronic SCD pain may face the additional challenge of managing children's chronic pain and chronic illness. This study examined associations between parent psychological distress and child functioning and the moderating role of chronic pain among youth with SCD. Youth presenting to pediatric outpatient comprehensive SCD clinics and their primary caregivers completed a battery of questionnaires. Parents reported on parenting stress, parent mental and physical health, and family functioning. Children completed measures of pain characteristics, depressive symptoms, catastrophic thinking, functional disability, and quality of life. Patients (N = 73, Mage = 14.2 years, 57% female) and their caregivers (Mage = 41.1 years, 88% mothers, 88% Black) participated. Worse parent functioning was associated with worse child pain, functioning, quality of life, and depressive symptoms. Beyond the effects of SCD, chronic SCD pain magnified the negative associations between parenting stress frequency and child quality of life, parent physical health and child quality of life, and parent depressive symptoms and child depressive symptoms. Chronic pain may exacerbate the relations between parent and child functioning beyond the effects of SCD alone. The management of both SCD and chronic pain may present additional challenges for parents that limit their psychosocial functioning. Family-focused interventions to support parents and youth with chronic SCD pain are warranted to optimize health outcomes.

Swaying sickle cell research forward in support of patient reported outcomes.

Swaying sickle cell research forward in support of patient reported outcomes.

Sickle Cell Disease.

Sickle cell disease is an umbrella term for a group of hemoglobinopathies characterized by the presence of 2 β-globin gene mutations or deletions, at least 1 of which is the point mutation that leads to the production of hemoglobin S. Sickle cell disease is associated with hemolytic anemia, significant chronic end-organ damage, and early death. In high-income countries, at least 95% of children with the disease survive into adulthood, resulting in a growing population of affected adults with significant comorbidities, complex medical issues, and not enough specialists to provide care. Hydroxyurea is the primary therapy, and recent advances in understanding disease pathophysiology have led to new therapies; progress in bone marrow transplant and gene editing has resulted in cure in some patients. The purpose of this review is to provide an overview of the diagnosis, common acute and chronic clinical manifestations, and best practices for management of sickle cell disease.