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| Spread the Word About the Sickle Cell Disease Challenge|
Do you know college or graduate students who would like to help reduce stigma and improve understanding of sickle cell disease? Encourage them to join the NHLBI’s new Challenge to improve sickle cell disease awareness. The NHLBI will award up to a total of $50,000. Learn more about the challenge.
COVID-19 Posing Risk for Sickle Cell Disease Patients
Studies suggest that people with sickle cell disease who also are infected with SARS-CoV-2 are more vulnerable to severe health complications than the rest of the population.
Read more about the research.
Health App Could Help People with Sickle Cell Disease Take Their Meds
A study published earlier this year found that most sickle cell disease patients forget to take the drug hydroxyurea that reduces pain crises. A new mobile phone app, called InCharge Health, could help.
Read how researchers are testing the InCharge Health app.
Portable Sickle Disease Test Could Aid Early Detection in Children
A low-cost portable test could help detect sickle cell disease in children living in areas with low resources, getting them early treatment that could save lives.
Learn more about the test.
Using Genome Editing for Sickle Cell Disease
See how researchers are testing ways to use genome editing to treat sickle cell disease.
Watch the video to learn more.
Sickle Cell Disease Information
The NHLBI provides many resources to help patients, their families, and health professionals learn more about important sickle cell disease topics.
Browse the NHLBI’s sickle cell disease information
|Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action https://www.nationalacademies.org/our-work/addressing-sickle-cell-disease-a-strategic-plan-and-blueprint-for-action|
The Department of Health and Human Services (HHS), Office of Minority Health requests that the National Academies of Sciences, Engineering, and Medicine convened an ad hoc committee to develop a strategic plan and blueprint for addressing sickle cell disease (SCD) in the United States. The committee will examine the epidemiology, health outcomes, genetic implications, and societal factors associated with SCD and sickle cell trait (SCT), including serious complications of SCD, current guidelines and best practices for care of patients with SCD, and federal, state and local programs related to SCD treatment and care programs.
Sickle cell on PBS NOVA
Articles in the medical literature
|1. Cardiomyopathy in Sickle Cell Disease Cureus. 2020 Aug 8;12(8):e9619. doi: 10.7759/cureus.9619.|
Harsimran Kaur 1 , Fahad Aurif 2 , Mahdi Kittaneh 3 , Jeoffrey Patrick G Chio 4 , Bilal Haider Malik 1
Sickle cell disease (SCD) is an inherited disorder that occurs due to point mutation in the beta-globin chain resulting in the production of hemoglobin S that tends to become rigid and sickle-shaped under low oxygen concentration. These sickle-shaped red blood cells (RBCs) obstruct the blood vessels leading to reduced blood flow to the organs, causing ischemia and tissue fibrosis. These sickle RBCs being abnormal in shape are frequently sequestered by the spleen, creating a state of chronic anemia in the body. This chronic anemia leads to a high cardiac output state causing cardiac remodeling. To tackle chronic anemia, patients are frequently treated with blood transfusions that makes them more prone to the risk of iron overload (from newly transfused RBCs and iron release from the RBCs that just got sequestered as well as from volume overload) and volume overload causing left ventricular (LV) dilation. The above-mentioned mechanism of cardiac hypertrophy, along with LV dilation together, makes SCD-related cardiomyopathy unique cardiomyopathy with features of restrictive cardiomyopathy with LV dilation. It is interesting to note here that even though there is a presence of LV dilatation, Systolic dysfunction is very uncommon in SCD-related cardiomyopathy.
Keywords: cardiomyopathy; chronic anemia; diastolic dysfunction; iron overload cardiomyopathy; microvascular occlusion; pulmonary hypertenion; restrictive cardiomyopathy; sickle cell disease. Copyright © 2020, Kaur et al. Full-text links
2. The vaso-occlusive pain crisis in sickle cell disease: Definition, pathophysiology, and management Eur J Haematol. 2020 Sep;105(3):237-246. doi: 10.1111/ejh.13430. Epub 2020 May 19. Authors
Deepika S Darbari 1 , Vivien A Sheehan 2 , Samir K Ballas 3
Early diagnosis, treatment, and prevention of a vaso-occlusive crisis (VOC) are critical to the management of patients with sickle cell disease. It is essential to differentiate between VOC-associated pain and chronic pain, hyperalgesia, neuropathy, and neuropathic pain. The pathophysiology of VOCs includes polymerization of abnormal sickle hemoglobin, inflammation, and adhesion. Hydroxyurea, L-glutamine, crizanlizumab, and voxelotor have been approved by the US Food and Drug Administration for reducing the frequency of VOCs; the European Medicines Agency has approved only hydroxyurea. Other novel treatments are in late-stage clinical development in both the United States and the European Union. The development of agents for prevention and treatment of VOCs should be driven by our understanding of its pathophysiology. Keywords:
L-glutamine; P-selectin; hydroxyurea; pain; sickle cell disease. © 2020 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd. 98 references Publication types Review Grant support Novartis Pharmaceuticals Corporation Full-text links
3. Prognosis of patients with sickle cell disease and COVID-19: a French experience Lancet Haematol. 2020 Sep;7(9):e632-e634. doi: 10.1016/S2352-3026(20)30204-0. Epub 2020 Jun 18.
Jean-Benoît Arlet 1 , Gonzalo de Luna 2 , Djamal Khimoud 3 , Marie-Hélène Odièvre 4 , Mariane de Montalembert 5 , Laure Joseph 5 , Christelle Chantalat-Auger 6 , Edouard Flamarion 3 , Pablo Bartolucci 2 , François Lionnet 7 , Sebastien Monnier 8 , Cécile Guillaumat 9 , Aline Santin 7 Full-text links
4. Temperament in preschool children with sickle cell anaemia Arch Dis Child. 2020 Sep;105(9):900-902. doi: 10.1136/archdischild-2018-315054. Epub 2018 Dec 21.
Michelle Downes 1 2 , Michelle de Haan 2 , Tess O’Leary 1 , Paul T Telfer 3 , Fenella J Kirkham 2
Aims: Few studies have investigated the potential impact of sickle cell anaemia (SCA) on temperament. The aim of the current study was to investigate temperament in preschool children with SCA and to establish the reliability of the Children’s Behaviour Questionnaire (CBQ) in this population.
Methods: The CBQ, a parent-report measure of temperament, was completed by parents of 21 preschool children with SCA and a control group of parents of typically developing children, matched for age, ethnicity and socioeconomic status.
Results: A significant difference between groups was identified for the dimension of negative affectivity only, with specific differences observed in the discomfort subdomain. Patients with a greater number of hospital admissions in the previous year were reported to have higher levels of discomfort.
Conclusions: Preschool children with SCA are reported to have higher rates of negative affectivity, particularly discomfort. Future research is required to investigate the potential influence of dysregulated negative emotions and discomfort on disease management and quality of life throughout childhood.
Keywords: child psychology; haematology; pain; sickle cell disease; temperament. © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. Full-text links
5. Efficacy and safety of recently approved drugs for sickle cell disease: a review of clinical trials Exp Hematol. 2020 Aug 22;S0301-472X(20)30356-8. doi: 10.1016/j.exphem.2020.08.008. Online ahead of print.
Muhammad Ashar Ali 1 , Asrar Ahmad 2 , Hafsa Chaudry 1 , Wajeeha Aiman 3 , Sobia Aamir 4 , Muhammad Yasir Anwar 1 , Anam Khan 5
Sickle cell disease is prevalent in several parts of the world. Most hospitalizations of these patients are related to pain crisis episodes. Moreover, levels of hemoglobin are lower in sickle cell disease patients as compared with the general population. Complications related to sickle cell disease are managed with blood transfusions, hydroxyurea, and opioids. Despite these therapies, patients with sickle cell disease experience multiple pain crisis episodes leading to hospitalizations and end-organ damage. The US Food and Drug Administration has approved three new drugs-L-glutamine, voxelotor, and crizanlizumab-for the prophylaxis and treatment of complications related to sickle cell disease. This review was aimed at assessing the efficacy and safety of recently approved drugs for the treatment of sickle cell disease. A comprehensive search was made on PubMed and clinicaltrials.gov to look for clinical trials reporting the efficacy and safety of recently approved drugs for sickle cell disease. Based on the results of clinical trials, L-glutamine, voxelotor, and crizanlizumab were well tolerated by sickle cell disease patients. L-Glutamine and crizanlizumab reduced the number of sickle cell crisis episodes, while voxelotor improved the level of hemoglobin in sickle cell disease patients. These drugs were effective alone and in combination with hydroxyurea. Copyright © 2020 ISEH — Society for Hematology and Stem Cells. Published by Elsevier Inc. All rights reserved. Conflict of interest statement Full-text links
6. Fetal Hemoglobin in Sickle Cell Anemia Blood. 2020 Aug 17;blood.2020007645. doi: 10.1182/blood.2020007645. Online ahead of print.
Martin H Steinberg 1
Fetal hemoglobin (HbF) can blunt the pathophysiology, temper the clinical course and offer prospects for curative therapy of sickle cell disease. This review focuses on: 1. HbF quantitative trait loci and the geography of β-globin gene haplotypes, especially those found in the Middle East; 2. how HbF might differentially impact the pathophysiology and many subphenotypes of sickle cell disease; 3. clinical implications of person-to-person variation in the distribution of HbF among HbF-containing erythrocytes; 4. reactivation of HbF gene expression using both pharmacologic and cell-based therapeutic approaches. A confluence of detailed understanding of the molecular basis of HbF gene expression, coupled with the ability to precisely target by genomic editing most areas of the genome, are producing important preliminary therapeutic results that could provide new options for cell-based therapeutics with curative intent. Copyright © 2020 American Society of Hematology. Full-text links
7. Ocular Manifestations of Sickle Cell Disease: Signs, Symptoms and Complications Ophthalmic Epidemiol. 2020 Aug;27(4):259-264. doi: 10.1080/09286586.2020.1723114. Epub 2020 Feb 3.
Saif Aldeen AlRyalat 1 , Mohammed Nawaiseh 2 , Barakat Aladwan 3 , Allaa Roto 4 , Zeyad Alessa 5 , Akram Al-Omar 5
Sickle cell disease is an inherited hematological disorder that can affect any organ in the body including the eyes (1-6). Previous studies on ocular manifestations of sickle cell disease generally included samples of less than 100 patients. In this study, we aim to assess the frequency of different ocular signs, symptoms and complications among sickle cell disease patients.
This study was conducted using data from the Cooperative Study of Sickle Cell Disease (CSSCD). Patients with major sickle cell hemoglobinopathies (SS, SC, S β-thal) were eligible for enrollment. Patients from all age groups were included. Patients underwent detailed ophthalmological examination under standardized conditions.
A total of 1904 patients were included in this study, with a mean age of 27.67 (±11.72) years. 1,802 (96.4%) patients had BCVA of more than 20/40 in the better-seeing eye. On slit lamp examination, the presence of vascular loops and segment, representing a positive conjunctival sign, was the most common reported abnormal finding (54.1%). The most common complication was peripheral retinal artery occlusion detected in225 patients (20.3%) bilaterally and 77 patients (6.9%) unilaterally.
In this study that included one of the largest samples ever studied to assess ocular complications of sickle cell disease, we identified the frequency and percentages of different ocular signs, symptoms and complications in different age groups.
Sickle Cell; conjunctival sign; ocular; retinopathy; sunburst. Full-text links
8. What is the place of hematopoietic stem cell transplantation in the management of cerebral vasculopathy in children with sickle cell anemia? Hematol Oncol Stem Cell Ther. 2020 Sep;13(3):121-130. doi: 10.1016/j.hemonc.2019.12.002. Epub 2020 Mar 12.
Françoise Bernaudin 1
Cerebral vasculopathy is the most severe complication affecting children with sickle cell anemia. Significant progress has been made in the management of sickle cell anemia cerebral vasculopathy, including early transcranial Doppler screening, chronic transfusion, andhydroxyurea. Nevertheless, for patients with a potential matched-sibling donor (MSD), stem cell transplantation (SCT) is now the treatment offering the best cerebral vasculopathy outcome. In the absence of MSD,alternative SCT should be recommended only in those with worsening cerebral vasculopathy despite standard treatments, and should be limited to related haplo-identical SCT undertaken in controlled studies. Keywords:
Hydroxyurea; Sickle cell anemia; Silent cerebral infarct; Stroke; Transcranial doppler; Transfusion. Copyright © 2020 King Faisal Specialist Hospital & Research Centre. Published by Elsevier Ltd. All rights reserved. Full-text links
9. Ocular Manifestations of Sickle Cell Disease in Different Genotypes Ophthalmic Epidemiol. 2020 Aug 6;1-6. doi: 10.1080/09286586.2020.1801762. Online ahead of print.
Saif Aldeen AlRyalat 1 , Bahaa Al-Din Mustafa Jaber 2 , Abdulaziz A Alzarea 3 , Abdullah A Alzarea 3 , Wejdan A Alosaimi 4 , Mouna Al Saad 1 Abstract
Sickle cell disease (SCD) is a multisystemic disorder with variable systemic involvement which varies according to genotype. In this study, our aim is to compare ocular complications between HbSS, HbSC, HbS/β+ thalassemia, HbS/β0 thalassemia, SS alpha thalassemia, and S/β0 + alpha thalassemia genotypes.
Data of patients included in this study was recruited from the Cooperative Study of Sickle Cell Disease (CSSCD). Patients with major sickle cell hemoglobinopathies (SS, SC, Sβ- thalassemia, SS alpha thalassemia) were eligible for enrollment, after that, a detailed eye exam was performed. We categorized ocular complications into conjunctival sign, iris atrophy, and both proliferative and non-proliferative sickle cell retinopathy.
A total of 1867 patients were included in this study, with a mean age of 27.7 (± 11.7) years. They were 830 (44.5%) males and 1037 (55.5%) females. The most common genotype was SS with 971 (52%) patients, and the least common form was sickle cell with both alpha and beta thalassemia major with 42 (2.2%) patients. We found a significant difference in the frequency of proliferative sickle cell retinopathy, where SC genotype had the highest frequency and S B0 thalassemia genotype had the lowest frequency. We also found a significant difference in the frequency of conjunctival sign, where SS genotype had the highest frequency and the S B+ thalassemia has the lowest frequency.
We identified ocular complications for major sickle cell hemoglobinopathies, where we confirmed previous small study’s findings and identified ocular complications of less common hemoglobinopathies.
Keywords: Sickle cell; eye; genotype; ocular; retinopathy. Full-text links
10. Liver damage and sickle cell disease: genotype relationship Ann Hematol. 2020 Sep;99(9):2065-2072. doi: 10.1007/s00277-020-04113-3. Epub 2020 Jun 22.
Marta Bortolotti 1 , Roberta D’Ambrosio 2 , Mirella Fraquelli 3 , Patrizia Pedrotti 4 , Dario Consonni 1 5 , Margherita Migone De Amicis 6 , Natalia Scaramellini 1 , Elena Di Pierro 6 , Giovanna Graziadei 7
Sickle hepatopathy is a severe and not rare complication of sickle cell disease (SCD), showing mainly a cholestatic pattern. So far, no effective approaches to prevent or treat this condition have been recognized. We conducted a single-center observational study in 68 adult sickle cell patients, encompassing 17 with sickle cell anemia (SCA), 38 with sickle cell thalassemia (HbS/β-Thal), and 13 with HbSC disease. The aim of our study was to assess liver damage in the three main forms of SCD, through the evaluation of clinical, laboratory, and imaging findings. In our population, the role of hepatotropic viruses, high BMI, and alcohol consumption in liver damage was ruled out. SCA and HbS/β-Thal patients with lower Hb (p < 0.001), higher HbS (p < 0.001), and frequent vaso-occlusive crises showed functional (GGT values: SCA and HbS/β-Thal vs HbSC p = 0.047 and p = 0.009, respectively) and structural liver abnormalities, defined by abdominal ultrasound and vibration-controlled transient elastography (liver stiffness values: SCA and HbS/β-Thal vs HbSC p 0.022 and p 0.19, respectively), more severe than HbSC patients. Through univariate and multivariate analyses, male sex, SCA genotype, lower HbF, frequent transfusions, increased GGT values, and abnormal liver ultrasound and stiffness were identified as potentially early markers of sickle hepatopathy. Keywords:
Genotype correlation; Liver disease; Sickle cell disease; Sickle hepatopathy. Publication types Observational Study Full-text links
11. Coronavirus Disease among Persons with Sickle Cell Disease, United States, March 20-May 21, 2020 Emerg Infect Dis. 2020 Oct;26(10):2473-2476. doi: 10.3201/eid2610.202792. Epub 2020 Jul 8. Authors
Julie A Panepinto, Amanda Brandow, Lana Mucalo, Fouza Yusuf, Ashima Singh, Bradley Taylor, Katherine Woods, Amanda B Payne, Georgina Peacock, Laura A Schieve PMID: 32639228 DOI: 10.3201/eid2610.202792
Sickle cell disease (SCD) disproportionately affects Black or African American persons in the United States and can cause multisystem organ damage and reduced lifespan. Among 178 persons with SCD in the United States who were reported to an SCD-coronavirus disease case registry, 122 (69%) were hospitalized and 13 (7%) died. Keywords:
COVID-19; SARS-CoV-2; SCD; United States; coronavirus; coronavirus disease; hemoglobin; respiratory diseases; severe acute respiratory syndrome coronavirus 2; sickle cell disease; viruses; zoonoses.
12. Phytomedicines (medicines derived from plants) for sickle cell disease Cochrane Database Syst Rev. 2020 Sep 25;9:CD004448. doi: 10.1002/14651858.CD004448.pub7.
Oluseyi Oniyangi 1 , Damian H Cohall 2
Sickle cell disease, a common recessively inherited haemoglobin disorder, affects people from sub-Saharan Africa, the Middle East, Mediterranean basin, Indian subcontinent, Caribbean and South America. It is associated with complications and a reduced life expectancy. Phytomedicines (medicine derived from plants in their original state) encompass many of the plant remedies from traditional healers which the populations most affected would encounter. Laboratory research and limited clinical trials have suggested positive effects of phytomedicines both in vivo and in vitro. However, there has been little systematic appraisal of their benefits. This is an updated version of a previously published Cochrane Review.
To assess the benefits and risks of phytomedicines in people with sickle cell disease of all types, of any age, in any setting.
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, the International Standard Randomised Controlled Trial Number Register (ISRCTN), the Allied and Complimentary Medicine Database (AMED), ClinicalTrials.gov and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP). Dates of most recent searches: Cochrane Cystic Fibrosis and Genetic Disorders Haemoglobinopathies Trials Register: 17 March 2020; ISRCTN: 19 April 2020; AMED: 18 May 2020; ClinicalTrials.gov: 24 April 2020; and the WHO ICTRP: 27 July 2017.
Randomised or quasi-randomised trials with participants of all ages with sickle cell disease, in all settings, comparing the administration of phytomedicines, by any mode to placebo or conventional treatment, including blood transfusion and hydroxyurea.
Data collection and analysis:
Both authors independently assessed trial quality and extracted data.
Three trials (212 participants) of three phytomedicines: Niprisan® (also known as Nicosan®), Ciklavit® and a powdered extract of Pfaffia paniculata were included. The Phase IIB (pivotal) trial suggests that Niprisan® may be effective in reducing episodes of severe painful sickle cell disease crisis over a six-month period (low-quality evidence). It did not appear to affect the risk of severe complications or the level of anaemia (low-quality evidence). The single trial of Cajanus cajan (Ciklavit®) reported a possible benefit to individuals with painful crises, and a possible adverse effect (non-significant) on the level of anaemia (low-quality evidence). We are uncertain of the effect of Pfaffia paniculata on the laboratory parameters and symptoms of SCD (very low-quality of evidence). No adverse effects were reported with Niprisan® and Pfaffia paniculata (low- to very low-quality evidence). Authors’ conclusions: While Niprisan® appeared to be safe and effective in reducing severe painful crises over a six-month follow-up period, further trials are required to assess its role in managing people with SCD and the results of its multicentre trials are awaited. Currently, no conclusions can be made regarding the efficacy of Ciklavit® and the powdered root extract of Pfaffia paniculata in managing SCD. Based on the published results for Niprisan® and in view of the limitations in data collection and analysis of the three trials, phytomedicines may have a potential beneficial effect in reducing painful crises in SCD. This needs to be further validated in future trials. More trials with improved study design and data collection are required on the safety and efficacy of phytomedicines used in managing SCD.
ClinicalTrials.gov NCT01771731. Copyright © 2020 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd. Full-text links
13. Randomized Pilot Study: A Mobile Technology-based Self-management Intervention for Sickle Cell Pain West J Nurs Res. 2020 Aug;42(8):629-639. doi: 10.1177/0193945919878821. Epub 2019 Oct 4. Authors
Miriam O Ezenwa 1 , Yingwei Yao 1 , Minh-Nguyet T Nguyen 2 , Molly W Mandernach 2 , Clayton T Hunter 2 , Saunjoo L Yoon 1 , David Fedele 3 , Robert J Lucero 4 , Debra Lyon 1 , Diana J Wilkie 1 Abstract
Little is known about the effects of self-managed relaxation interventions on pain, stress, and autonomic responses in patients with sickle cell disease (SCD). This pre-post randomized controlled pilot study was conducted to determine the feasibility of using computer tablets for relaxation intervention delivery; acceptability of study procedures; and intervention effects on pain, stress, and indicators of relaxation. The 30 research participants ranged in age from 22 years to 59 years. All were African American; 53% were male. They were randomized to an experimental group that watched a relaxation video or a control group that discussed their disease. All participants completed the study, indicating feasibility. Acceptability rates were also high. Data were obtained for the intervention’s immediate effect on pain, stress, respiration, pulse, finger skin temperature, and self-reported relaxation. These preliminary findings will guide future, higher-powered studies to determine the intervention’s efficacy and mechanism in SCD.The ClinicalTrials.gov Identifier: NCT02729363. Full-text links
14. Administrative data identify sickle cell disease: A critical review of approaches in U.S. health services research Pediatr Blood Cancer. 2020 Sep 17;e28703. doi: 10.1002/pbc.28703. Online ahead of print. Authors
Scott D Grosse 1 , Nancy S Green 2 , Sarah L Reeves 3 4
To identify people living with sickle cell disease (SCD) and study their healthcare utilization, researchers can either use clinical records linked to administrative data or use billing diagnosis codes in stand-alone administrative databases. Correct identification of individuals clinically managed for SCD using diagnosis codes in claims databases is limited by the accuracy of billing codes in outpatient encounters. In this critical review, we assess the strengths and limitations of claims-based SCD case-finding algorithms in stand-alone administrative databases that contain both inpatient and outpatient records. Validation studies conducted using clinical records and newborn screening for confirmation of SCD case status have found that algorithms that require three or more nonpharmacy claims or one inpatient claim plus two or more outpatient claims with SCD codes show acceptable accuracy (positive predictive value and sensitivity) in children and adolescents. Future studies might seek to assess the accuracy of case-finding algorithms over the lifespan.
Keywords: Medicaid; billing codes; diagnostic codes; healthcare use; sickle cell disease. © 2020 Wiley Periodicals LLC. 73 references Full-text links
15. Outcomes of an Emergency Department Observation Unit-Based Pathway for the Treatment of Uncomplicated Vaso-occlusive Events in Sickle Cell Disease Ann Emerg Med. 2020 Sep;76(3S):S12-S20. doi: 10.1016/j.annemergmed.2020.08.007.
Matthew Lyon 1 , Lashon Sturgis 2 , Richard Lottenberg 3 , Marin E Gibson 4 , Jonathan Eck 2 , Abdullah Kutlar 5 , Robert W Gibson 6 Study objective:
This was a prospective, pre-post, 13-year observational study documenting the multiyear implementation of an observation unit sickle cell pathway for patients with uncomplicated vaso-occlusive events.
The sickle cell pathway begins with rapid triage to identify patients with uncomplicated vaso-occlusive events for immediate transfer to the observation unit and initiation of patient-controlled analgesia followed by repeated evaluations of pain and identification of other complications. Data were abstracted from the electronic medical record or observation unit database. The sickle cell pathway was initiated in April 2006. Major revisions of it were carried out in June 2009 (physician evaluation occurs in sickle cell pathway and only patient-controlled analgesia administration of medications) and October 2010 (multidisciplinary management and individual dosing).
Annual ED visits ranged between 287 and 528. The preimplementation hospital admission rate was 33% (123/368), 3-day return rate 16% (60/368), and 30-day return rate 67% (248/368). Refinements to the sickle cell pathway have resulted in a decrease in admission rate to 20% (258/1276); 3-day return rate, to 3.6% (46/1,276); and 30-day return rate, to 41% (525/1,276) for the past 3 years.
The use of a sickle cell pathway for the treatment of uncomplicated vaso-occlusive events has been effective in providing rapid treatment and reducing hospital admissions. However, it was not only the intervention and its refinement that made the sickle cell pathway successful. With the Consolidated Framework for Implementation Research, it was discerned that outer setting factors of organizational commitment to the care of patients with SCD, inner setting factors of learning climate and leadership engagement, individuals, and process contributed to the success of the sickle cell pathway. Copyright © 2020 American College of Emergency Physicians. Published by Elsevier Inc. All rights reserved. Full-text links
16. Changing the Clinical Paradigm of Hydroxyurea Treatment for Sickle Cell Anemia through Precision Medicine Clin Pharmacol Ther. 2020 Sep 1. doi: 10.1002/cpt.2028. Online ahead of print. Authors
Min Dong 1 2 , Patrick T McGann 2 3
Sickle cell anemia (SCA) is a common and devastating inherited blood disorder, affecting millions of people across the world. Without treatment, SCA results in tremendous morbidity and early mortality. Hydroxyurea is the primary and most well-established pharmacologic therapy with proven benefits to ameliorate the clinical course of SCA, primarily due to its ability to increase the expression of fetal hemoglobin (HbF), which prevents sickling of red blood cells. The optimal induction of HbF depends upon selection and maintenance of the proper dose that maximizes benefits and minimizes toxicity. Due to the significant interpatient variability in hydroxyurea pharmacokinetics, pharmacodynamics, and dosing, most patients treated with hydroxyurea receive suboptimal doses and have only modest treatment responses. Recognizing this variability, using a precision medicine approach, we developed and prospectively evaluated an individualized dosing model for children with SCA, designed to optimize the hydroxyurea dose and clinical response. We utilize novel laboratory methods and a sparse sampling strategy requiring only 10 microliters of blood collected 15 minutes, 60 minutes, and 180 minutes after a test dose. We use Bayesian adaptive control to estimate hydroxyurea exposure and to select an individual, optimal starting dose. This dosing model has resulted in HbF responses greater than 30-40%, levels beyond what is achieved with traditional weight-based dosing and trial and error dose escalation. This hydroxyurea dosing strategy, if widely implemented, has the potential to change the treatment paradigm of hydroxyurea therapy and improve outcomes for the millions of SCA patients across the world. This article is protected by copyright. All rights reserved. Full-text links
17. Evidence-based dental management in the new era of sickle cell disease: A scoping review J Am Dent Assoc. 2020 Sep;151(9):668-677.e9. doi: 10.1016/j.adaj.2020.05.023.
Lewis L Hsu, Judy Fan-Hsu PMID: 32854869 DOI: 10.1016/j.adaj.2020.05.023
Sickle cell disease (SCD) is an emerging global health issue with rapid progress in therapy especially since 2017. However, systematic reviews found no clinical trials on dental treatment of SCD.
Types of studies reviewed:
Using a scoping review approach, the authors examined citations from 13 national SCD guidelines and 10 books spanning 4 decades. The authors also searched the following databases: PubMed, Cumulative Index to Nursing and Allied Health Literature, ScienceDirect, Scientific Electronic Library Online, and GoogleScholar. Eligibility criteria included SCD, oral health care and dental treatment, related to oral and systemic health, original data, or observations.
Systemic treatment of SCD might have opposing effects on caries, perhaps explaining the conflicting results published. Malocclusion correlates with marrow expansion. Other unusual orofacial findings reflect ischemia. Of 86 full-text articles examined, only 1, a Brazilian esthetic dentistry study, was a randomized clinical trial. No disease-specific data were found on risk of developing bacterial endocarditis, safety of inhaled nitrous oxide, safety of epinephrine with local anesthetic, or the benefit of comprehensive oral health care.
In SCD, oral health and systemic health could be strongly linked. Penicillin, vaccines, and hydroxyurea might impact caries and bone. The interaction of SCD treatments and oral health merit study.
Sickle cell; caries risk; evidence-based dentistry; guidelines; ischemia; malocclusion; mental nerve neuropathy; osteomyelitis; pulp necrosis; systemic health. Copyright © 2020 American Dental Association. Published by Elsevier Inc. All rights reserved. Full-text links
18. Evaluation of a clinical protocol using intranasal fentanyl for treatment of vaso-occlusive crisis in sickle cell patients in the emergency department Paediatr Child Health. 2020 Aug;25(5):293-299. doi: 10.1093/pch/pxz022. Epub 2019 Mar 7.
Hugo Paquin 1 , Evelyne D Trottier 1 , Yves Pastore 2 , Nancy Robitaille 2 , Marie-Joelle Dore Bergeron 3 , Benoit Bailey 1 Abstract Background:
Vaso-occlusive crisis (VOC) is one of the most frequent causes of emergency visits and admission in children with sickle cell disease (SCD).
This study aims to evaluate whether the use of a new pain management pathway using intranasal (IN) fentanyl from triage leads to improved care, translated by a decrease in time to first opiate dose.
We performed a retrospective chart review of patients with SCD who presented to the emergency department (ED) with VOC, in the period pre- (52 patients) and post- (44 patients) implementation period of the protocol. Time to first opiate was the primary outcome and was evaluated pre- and postimplementation. Patients received a first opiate dose within 52.3 minutes of registration (interquantile range [IQR] 30.6, 74.6), corresponding to a 41.4-minute reduction in the opiate administration time (95% confidence interval [CI] -56.1, -27.9). There was also a 43% increase in the number of patients treated with a nonintravenous (IV) opiate as first opiate dose (95% CI 26, 57). In patients who were discharged from the ED, there was a 49% decrease in the number of IV line insertions (95% CI -67, -22). There was no difference in the hospitalization rates (difference of 6 [95% CI -13, 25]).
This study validates the use of our protocol using IN fentanyl as first treatment of VOC in the ED by significantly reducing the time to first opiate dose and the number of IVs.
19. Risk factors associated with increased emergency department utilization in patients with sickle cell disease: a systematic literature review Ann Hematol. 2020 Aug 27. doi: 10.1007/s00277-020-04205-0. Online ahead of print.
Samir K Ballas 1 , Carlton Dampier 2 3
Sickle cell disease (SCD), a genetic disorder affecting up to 100,000 patients in the USA, impacts multiple organ systems. The emergency department (ED) is frequently utilized by patients with SCD who have severe pain from vaso-occlusive crises. The goal of this systematic literature review is to identify predictors for ED use among patients with SCD in the USA, as high ED reliance is not ideal because of the potential for discontinuity of care as well as higher costs. PubMed and Embase were searched for articles containing the keywords “sickle cell disease” AND (“emergency” OR “acute care”) AND (“utilization” OR “health care”) published between 2000 and 26 September 2019. A total of 26 publications were identified meeting the following inclusion criteria: report of ED or acute care clinic use; report of health care utilization for SCD; and report of ED visits independent of hospital admission, ED revisits, inpatient care visits, and SCD care unit visits. Articles unavailable in English or those focused on populations outside the USA were excluded. Of the 26 articles included, 4 were prospective and the remainder were retrospective. Qualitative analysis of the articles revealed a higher rate of ED utilization among adults than children, patients with public insurance than private insurance, and patients with more comorbidities, complications, or pain. Age and pain levels were both commonly cited as predictors of ED utilization. Additional prospective and interventional studies are needed to further define predictors of ED utilization and to uncover treatments that decrease ED visits. Full-text links
20. Pregnancy in sickle cell trait: what we do and don’t know Br J Haematol. 2020 Aug;190(3):328-335. doi: 10.1111/bjh.16518. Epub 2020 Feb 17.
Samuel Wilson 1 2 3 , Patrick Ellsworth 1 2 3 , Nigel S Key 1 3 4 Abstract
Sickle cell trait (SCT) is the carrier state for sickle cell disease that results from the HBB rs334 missense mutation (p.Glu6Val) in the β-globin chain of haemoglobin. While not associated with any impact on life expectancy, it has been established that SCT is associated with an increased risk of both venous thromboembolism (and in particular, pulmonary embolism) and chronic kidney disease. It is largely unknown what short- or long-term effect, if any, pregnancy has upon the risk or outcomes of these disorders. In addition, SCT has been linked with various adverse outcomes in pregnancy, ranging from maternal complications such as elevated risk of bacteriuria to potentially life-threatening entities such as pre-eclampsia and prematurity. In these scenarios also, no clear association with SCT has been established. Given the high worldwide prevalence of SCT, further studies addressing these issues are warranted.
chronic kidney disease; pregnancy; sickle cell trait; venous thromboembolism. © 2020 British Society for Haematology and John Wiley & Sons Ltd. Full-text links
21. Pica behaviors in pediatric patients with sickle cell disease: a scoping review protocol JBI Evid Synth. 2020 Sep;18(9):2018-2024. doi: 10.11124/JBISRIR-D-19-00241.
Olivia M Clark 1 2 , Renee Williams 1 2
The objective of this review is to explore existing literature regarding pica in pediatric patients with sickle cell disease and to identify associated interventions and outcomes.
Pica is a psychological eating disorder that is characterized by the consumption of items that contain no nutritional value. The ingestion of non-food items causes complications that can be harmful or even fatal. Approximately one-third of patients with sickle cell disease will also develop pica behaviors.
This review will consider studies that include pediatric patients from 18 months to 18 years of age who have been diagnosed with any type of sickle cell disease and have a history of pica. The study will examine interventions used in any setting to treat pediatric patients with sickle cell disease and pica and associated outcomes. Any study type will be considered for inclusion.
Databases to be searched will include CINAHL (EBSCO), Embase (Elsevier), Europe PubMed Central (PubMed), Psychology and Behavioral Sciences Collection (EBSCO), and Scopus (Elsevier). Data will be extracted from included papers by two independent reviewers. The data extracted will include details about the populations, concept, context, and study methods of significance to the review questions and objective. The extracted data will be presented in diagrammatic or tabular form in a manner that aligns to the objectives and scope of this review. Full-text links
22. Prognostic Value of Hyponatremia During Acute Painful Episodes in Sickle Cell Disease Am J Med. 2020 Sep;133(9):e465-e482. doi: 10.1016/j.amjmed.2020.02.017. Epub 2020 Mar 19. Authors
Jean-Simon Rech 1 , Kan Yao 2 , Claude Bachmeyer 3 , Sophie Bailleul 4 , Orlando Javier 5 , Gilles Grateau 6 , François Lionnet 1 , Olivier Steichen 7
Low plasma sodium concentration has been recognized as a prognostic factor in several disorders but never evaluated in sickle cell disease. The present study evaluates its value at admission to predict a complication in adult patients with sickle cell disease hospitalized for an initially uncomplicated acute painful episode. Methods:
The primary outcome of this retrospective study, performed between 2010 and 2015 in a French referral center for sickle cell disease, was a composite criterion including acute chest syndrome, intensive care unit transfer, red blood cell transfusion or inpatient death. Analyses were adjusted for age, sex, hemoglobin genotype and concentration, lactate dehydrogenase (LDH) concentration, and white blood cell count.
We included 1218 stays (406 patients). No inpatient death occurred during the study period. Hyponatremia (plasma sodium ≤135 mmol/L) at admission in the center was associated with the primary outcome (adjusted odds ratio [OR] 1.95, 95% confidence interval [CI] 1.3-2.91, P = 0.001), with acute chest syndrome (OR 1.95 [95% CI 1.2-3.17, P = 0.008]), and red blood cell transfusion (OR 2.71 [95% CI 1.58-4.65, P <0.001]) but not significantly with intensive care unit transfer (OR 1.83 [95% CI 0.94-3.79, P = 0.074]). Adjusted mean length of stay was longer by 1.1 days (95% CI 0.5-1.6, P <0.001) in patients with hyponatremia at admission.
Hyponatremia at admission in the medical department for an acute painful episode is a strong and independent prognostic factor of unfavorable outcome and, notably, acute chest syndrome. It could help targeting patients who may benefit from closer monitoring. Copyright © 2020 Elsevier Inc. All rights reserved. Full-text links
23. Smartphone-based sickle cell disease detection and monitoring for point-of-care settings Biosens Bioelectron. 2020 Oct 1;165:112417. doi: 10.1016/j.bios.2020.112417. Epub 2020 Jul 9. Authors
Shazia Ilyas 1 , Mazhar Sher 1 , E Du 2 , Waseem Asghar 3
Sickle cell disease (SCD) is a worldwide hematological disorder causing painful episodes, anemia, organ damage, stroke, and even deaths. It is more common in sub-Saharan Africa and other resource-limited countries. Conventional laboratory-based diagnostic methods for SCD are time-consuming, complex, and cannot be performed at point-of-care (POC) and home settings. Optical microscope-based classification and counting demands a significant amount of time, extensive setup, and cost along with the skilled human labor to distinguish the normal red blood cells (RBCs) from sickled cells. There is an unmet need to develop a POC and home-based test to diagnose and monitor SCD and reduce mortality in resource-limited settings. An early-stage and timely diagnosis of SCD can help in the effective management of the disease. In this article, we utilized a smartphone-based image acquisition method for capturing RBC images from the SCD patients in normoxia and hypoxia conditions. A computer algorithm is developed to differentiate RBCs from the patient’s blood before and after cell sickling. Using the developed smartphone-based technique, we obtained similar percentage of sickle cells in blood samples as analyzed by conventional method (standard microscope). The developed method of testing demonstrates the potential utility of the smartphone-based test for reducing the overall cost of screening and management for SCD, thus increasing the practicality of smartphone-based screening technique for SCD in low-resource settings. Our setup does not require any special storage requirements. This is the characteristic advantage of our technique as compared to other hemoglobin-based POC diagnostic techniques.
Microfluidics; Point-of-care diagnostics; SCD testing; Sickle cell diseases; and Smartphone-based biosensors. Copyright © 2020 Elsevier B.V. All rights reserved. Full-text links
24. Biochemical and therapeutic effects of Omega-3 fatty acids in sickle cell disease Complement Ther Med. 2020 Aug;52:102482. doi: 10.1016/j.ctim.2020.102482. Epub 2020 Jun 9.
Ahmed A Daak 1 , Miguel A Lopez-Toledano 2 , Matthew M Heeney 3
Sickle cell disease (SCD) is a hematologic disorder with complex pathophysiology that includes chronic hemolysis, vaso-occlusion and inflammation. Increased leukocyte-erythrocyte-endothelial interactions, due to upregulated expression of adhesion molecules and activated endothelium, are thought to play a primary role in initiation and progression of SCD vaso-occlusive crisis and end-organ damage. Several new pathophysiology-based therapeutic options for SCD are being developed, chiefly targeting the inflammatory pathways. Omega-3 fatty acids are polyunsaturated fatty acids that are known to have effects on diverse physiological processes. Eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are the principal biologically active omega-3 fatty acids. The therapeutic effects of DHA and EPA on chronic inflammatory disorders and cardiovascular diseases are well recognized. The therapeutic effects of omega-3 fatty acids are attributed to their anti-inflammatory and anti-thrombotic eicosanoids, and the novel class of EPA and DHA derived lipid mediators: resolvins, protectins and maresins. Blood cell membranes of patients with SCD have abnormal fatty acids composition characterized by high ratio of pro-inflammatory arachidonic acid (AA) to anti-inflammatory DHA and EPA (high omega-6/omega-3 ratio). In addition, experimental and clinical studies provide evidence that treatment with DHA does confer improvement in rheological properties of sickle RBC, inflammation and hemolysis. The clinical studies have shown improvements in VOC rate, markers of inflammation, adhesion, and hemolysis. In toto, the results of studies on the therapeutic effects of omega-3 fatty acids in SCD provide good body of evidence that omega-3 fatty acids could be a safe and effective treatment for SCD. Copyright © 2020 Elsevier Ltd. All rights reserved. Full-text links
Meetings for the Sickle Cell Community
New York Chapter of the National Sickle Cell Disease Association of America encourages you to apply for the 2020 SCD community health training hosted by the New York State Sickle Cell Advocacy Network, INC. NYS-SCAN.
If you have a passion for community health, have been personally affected by SCD, or want more education about SCD, this training is for you! Free online sessions will be held for 13 consecutive weeks. Sessions will be held weekly on Mondays from 11 am to 1 pm and Wednesdays from 6 pm to 8 pm. You choose which session fits within your schedule. This series will begin September 28, 2020, via Zoom and will cover 1 topic per week.
The program covers the core competencies of SCD such as facts about SCD, transitioning into adult services, complications, treatments, sickle cell trait, healthy living, emergency guide, information for emergency room providers as well as COVID-19 and SCD just to name a few.
Due to the many impacts of the COVID-19 pandemic, we are mindful of the fact that some wanting to participate in the training may be facing financial hardship. Considering this, we are awarding 45 qualifying participants a registration scholarship. This scholarship will award you FREE access to a 3-month Zoom account as well as training materials that are provided by presenters.
To be considered for the scholarship, registrants must complete the series of workshops. If you have any questions please contact us at 718-712-0873 or via email at firstname.lastname@example.org.
Participants, please use this link 2020 SCD Community Health Training Registration. Please be on the lookout for our confirmation email which will include Zoom meeting information.
First IASCNAPA Conference
The International Association of Sickle Cell Nurses and Professional Associates (IASCNAPA) Sickle Cell Conference: Treating the Whole Person scheduled for 4/17/2020 in Memphis is cancelled due to COVID-19 concerns. The decision to cancel the conference took into account many important factors, including the risk of unnecessary exposure to our patient population.
The event is rescheduled for April 9, 2021 at the Memphis Hilton.
Your understanding and support are greatly appreciated! For information go to www.iascnapa.org
Save the Date – SCDAA’s 48th Annual National Convention 2020 Is Going Virtual Given the current uncertainty regarding COVID-19 and its implications for attendee safety and travel, as well as for public health concerns, the Sickle Cell Disease Association of America’s (SCDAA) 48th Annual National Convention is moving to a virtual gathering on October 14-17, 2020. Clear here for more information.