scholarly journals Characterization of Community-Based Socioeconomic Factors, Utilization, and Adherence in Children with Sickle Cell Disease

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 4686-4686
Author(s):  
Ronay Thomas ◽  
Patrick T. McGann ◽  
Andrew Beck ◽  
Amanda Pfeiffer ◽  
Kyesha M James
Keyword(s):  
High School ◽  
Socioeconomic Factors ◽  
Sickle Cell ◽  
Census Tract ◽  
Deprivation Index ◽  
Cell Disease ◽  
The Us ◽  
Vacant Housing ◽  
Socioeconomic Challenges ◽  
Hamilton County

Introduction Sickle cell disease (SCD) affects over 100,000 people in the US, the majority of whom are African American. Socioeconomic challenges have a significant impact on both access and adherence to appropriate treatments which, given a history of racial segregation and discrimination, disproportionately burden under-represented minorities. The distribution of socioeconomic factors, like poverty, educational attainment, and housing quality, can now be assessed routinely at the population level, yet the distribution and impact of such contextual risks in the pediatric sickle cell population have not been sufficiently described. Here, we sought to characterize the burden of neighborhood-level socioeconomic challenges and barriers among children with SCD in one large, urban county. We also sought to determine whether these area-level indicators were associated with hospitalizations and markers of adherence to SCD medications. Methods We pursued a retrospective review of electronic health record data from 2011-2017 for children with HbSS disease in the active Cincinnati Children's Hospital Medical Center's SCD registry which includes all children receiving care within the past two years in the Comprehensive Sickle Cell Center and is representative of nearly all children with SCD in Hamilton County, Ohio. The analysis was performed under an IRB-approved study investigating socioeconomic factors for children in Hamilton County. Children within the SCD registry were excluded from this analysis if they had a non-HbSS genotype or an address outside of Hamilton County. Addresses were geocoded and linked to a specific census tract which approximates local neighborhood boundaries. Once linked to a census tract, that address was connected to a pre-determined list of variables present within the 2013-2017 US Census' American Community Survey. Variables included the census tract poverty rate, educational attainment rate (percentage of adults with less than a high school education), and the percentage of vacant housing. A validated census tract-level deprivation index, assembled from 6 such census variables, was also included. Outcomes of interest included number of hospitalizations and ED visits during the study period and %HbF for the subset on hydroxyurea treatment. Descriptive statistics were used to illustrate ecological socioeconomic characteristics among included patients. Associations between area-based socioeconomic deprivation and outcomes of interest were tested using the Kruskal-Wallis Test. Results There were 141 patients with HbSS included in the analysis (53% Male, 82% publicly insured). Mean age at the end of the analysis period was 9.6±6.3 years. Consistent with the aggressive treatment strategy at our center, most (97%) were on disease modifying treatment with either hydroxyurea (81%) or chronic transfusion therapy (16%). Compared to the county as a whole, children in the registry mapped to areas with relatively high rates of poverty (median 26%; IQR 15%-42%), low rates of education attainment (median with high school degree 86%; IQR 78%-91%), and high rates of vacant housing (median 13%; IQR 8%-19%). The deprivation index is scaled between 0 and 1 with higher values indicative of more socioeconomic deprivation. In our population, the deprivation index median was 0.45 (IQR 0.36-0.61). When the sample was categorized into three deprivation groups (low < 25th percentile, medium between 25th and 75th, and high >75th percentile), we found trends toward associations with utilization and adherence measures (Table 1). Conclusion A majority of our SCD patients live in neighborhoods with stark socioeconomic challenges and barriers which have been shown to negatively affect health outcomes. There appears to be a significant trend towards increased utilization among those living in more deprived neighborhoods, although, the link with adherence was less clear. The latter finding, indicative of similar HbF levels across deprivation groupings, may be the result of efforts made by our multidisciplinary comprehensive care team to optimize care for all patients regardless of socioeconomic challenges. The data presented here are novel and likely representative of socioeconomic challenges of most SCD patients living in the US. Future, larger, multi-center studies should focus on identifying and addressing social determinants of health within this population. Disclosures No relevant conflicts of interest to declare.

scholarly journals COVID Symptoms and COVID Anxiety in Sickle Cell Disease

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 16-17
Author(s):  
Wally R Smith ◽  
Benjamin Jaworowski ◽  
Shirley Johnson ◽  
Thokozeni Lipato ◽  
Daniel M Sop
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Research Funding ◽  
Telephone Survey ◽  
Cell Disease ◽  
Weighted Mean ◽  
The Us ◽  
Associated Symptoms ◽  
At Home

Background Even before the US upswing of the current COVID pandemic, the number of sickle cell disease (SCD) patients coming to hospitals and EDs appeared to fall drastically. This happened despite SCD patients having often been heavy utilizers of the ED and hospital for their iconic vaso-occlusive crises (VOC). Though ambulatory SCD clinics quick converted largely to telehealth in order to comply with stay-at-home orders designed to suppress person-to-person transmission, some SCD patients appeared to avoid care, delay care, or refuse doctors' invitations for care. Presumably patients did so out of COVID fears, but this has not been confirmed in the literature. Further, whether these patients had COVID symptoms but stayed at home has not been studied. As part of quality improvement (QI) to conduct COVID surveillance in an adult sickle cell program, we sought to explain and predict SCD health care utilization patterns we were observing, as well as to determine urgent physical and mental health needs of patients who appeared to be avoiding care. Methods Fifteen staff in the Adult Sickle Cell Medical Home at Virginia Commonwealth University, a large urban academic medical center, conducted a telephone survey ("wellness check"was used when we talked to patients) of all known adults with SCD over 19 days in 2020. A staff member confirmed the patient had SCD, asked permission to proceed, then asked about symptoms consistent with COVID-19. At the end of the telephone survey, respondents wer invited to complete an email survey of sickle cell and COVID-19 utilization attitudes (19-33 items, depending on the response pattern, either drawn from the National Health Interview Survey, from the Adult Sickle Cell Quality of Life Measurement quality of care survey, or drafted by the authors), the Sickle Cell Stress Survey-Adult (SCSS-A, a 10-item previously validated survey), and anxiety and depression (PHQ9 of the PRIME-MD). Results Of 622 adults approached by phone call, 353 responded to the following yes/no screening questions regarding the prior 14 days: fever over 100 F 0/353 (0.00%); cough 3/353(0.01%); difficulty breathing 0/353(0.00%); unexplained shortness of breath 2/353(0.01%); sore throat 2/353 (0.01%); unexplained muscle soreness 2/353(0.01%);contact with anyone who tested positive for COVID-19 2/353(0.01%); testing for COVID 19 6/353(0.02%). For QI purposes, we set a threshold of three or more COVID-associated symptoms or the presence of fever as criteria requiring intense telephone or in-person staff monitoring for the following week. Only three patients met criteria. A total of 219/353 had email surveys sent. Of 63 patients (28.8%) who returned email surveys by June 10, 2020, 35.9% had already managed a "pain attack" at home 4 or more times in the prior 12 months, and 45.5% of these said their bad ER experiences were very or somewhat important in that decision. In the prior 14 days, although 30/64 reported a crisis for at least one day, only 4/64 had visited the Emergency Department for pain. On a 0-10 scale, 21/61 patients endorsed "0" for worry that they would be COVID-infected by going for medical care (weighted mean 3.9), but 18/59 endorsed "10" for worry they were more at risk of COVID because of SCD (weighted mean 6.31), and 22/60 endorsed "10" for worry they would fare worse than others if COVID infected (weighted mean 6.97). Many patients forwent "needed" care (16/62) or delayed "needed" care by at least a day (36/61). Eleven patients met criteria for moderately severe to severe depression on the PHQ-9, and 28/63 somewhat or strongly agreed with the statement "death is always on the back of my mind" on the SCSS-A. Conclusions In adolescents and adults with SCD, many were already reticent to come to the ED for pain, but a significant portion reported delays or avoidance of needed care during the early stages of the US COVID pandemic, and few reported using the ED despite over half reporting at least one crisis day in 14. Patients nonetheless reported very few COVID-associated symptoms. Fears of COVID infection/susceptibility may limit visits for needed sickle cell care among adults. Acknowledgements: Mica Ferlis RN, FNP, Caitlin McManus, RN, FNP, Emily Sushko, RN, FNP, Justin West, RN, Kate Osborne, RN, Stefani Vaughan-Sams, Marla Brannon, BS, Nakeiya Williams, BS Disclosures Smith: GlycoMimetics, Inc.: Consultancy; Emmaeus Pharmaceuticals, Inc.: Consultancy; Novartis, Inc.: Consultancy, Other: Investigator, Research Funding; Global Blood Therapeutics, Inc.: Consultancy, Research Funding; Shire, Inc.: Other: Investigator, Research Funding; NHLBI: Research Funding; Patient-Centered Outcomes Research Institute: Other: Investigator, Research Funding; Health Resources and Services Administration: Other: Investigator, Research Funding; Incyte: Other: Investigator; Pfizer: Consultancy; Ironwood: Consultancy; Novo Nordisk: Consultancy; Imara: Research Funding; Shire: Research Funding.

Low Fixed Dose Hydroxyurea for the Treatment of Adults with Sickle Cell Disease in Nigeria

Blood ◽  
2017 ◽  
Vol 130 (Suppl_1) ◽  
pp. 981-981
Author(s):  
Titilola S. Akingbola ◽  
Bamidele Tayo ◽  
Santosh L. Saraf ◽  
Binal N. Shah ◽  
Chinedu A Ezekekwu ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Low Dose ◽  
Adverse Outcome ◽  
Clinical Malaria ◽  
Fixed Dose ◽  
Cell Disease ◽  
Hemoglobin F ◽  
The Us

Abstract Background: The vast majority of births with sickle cell anemia occur in Africa 1 and early-life mortality, generally before age five years, is as high as 90% 2,3. Hydroxyurea was approved for sickle cell anemia by the US FDA in 1998 but is not commonly used in Africa due to fear of toxicity, lack of awareness and limited availability. Hemoglobin F is a protective factor that decreases severity of sickle cell anemia, and hydroxyurea treatment leads to an increase in hemoglobin F. In the US, hydroxyurea is typically initiated at a dose of 15 mg/kg followed by dose escalations of up to 35 mg/kg if tolerated with a goal of maximal tolerated dose and maximal response in hemoglobin F. Neutropenia and thrombocytopenia are the usual limitations to achieving maximal dose. In the landmark Multicenter Study of Hydroxyurea, the clinical response to hydroxyurea correlated strongly with a reduction in the neutrophil count as well as an increase in the fetal hemoglobin concentration as reflected in percentage of F cells. A striking decrease in pain crises was observed in the first three months of therapy, before dose escalation and before maximal increase in hemoglobin F levels 4. Furthermore, hydroxyurea in the range of 10-15.9 mg/kg/day was reportedly effective in decreasing the frequency of pain episodes in children and adolescents in Oman 5, and hydroxyurea 10 mg/kg/day decreased pain episodes in children and adults with sickle cell anemia in India 6. From these perspectives, we reasoned that a fixed dose of hydroxyurea 10 mg/kg/day is reasonable to investigate in the African setting where the safety in relationship to the resources and infectious exposures is not known. Methods: We assigned 48 sickle cell anemia patients to hydroxyurea 500 mg/day for 24 weeks to determine safety and efficacy; 28 had high-risk disease based on hemoglobin F&lt;8.6% and absence of alpha-thalassemia. We defined a clinically meaningful adverse outcome category as ≥10% of patients developing platelets &lt;50,000/uL, granulocytes &lt;500/uL, clinical malaria and/or active tuberculosis. Picking up refills every four weeks was the adherence metric. We analyzed the results on an intent-to-treat basis. Results: The median (interquartile range) age was 25 (22-27) years and the median hydroxyurea dose 9.8 (9.1-10.4) mg/kg per day. The patients complied with treatment for a median of 20 (16-24) weeks. Four (8.3%) developed a pre-specified adverse outcome: clinical malaria (N=2), thrombocytopenia in combination with malaria (N=1), pulmonary tuberculosis (N=1). During therapy the median hemoglobin increased by 9.0 g/L, mean corpuscular volume by 11.2 fL and body weight by 3.0 kg while median white blood cells declined by 2600 per uL and platelets by 127,000 per uL (P&lt;0.001). The median hemoglobin F increased from 4.1% (2.3-6.3%) at baseline (N=27) to 8.5% (6.3-12.9%) during therapy (N=24) (P&lt;0.001). Conclusion: Our results suggest that low, fixed-dose dose hydroxyurea for sickle cell anemia in Nigeria is associated with a low adverse outcome rate and with improvements in blood counts, hemoglobin F and body weight. The effects on vaso-occlusive episodes and on the risks of recrudescent tuberculosis and malaria-associated thrombocytopenia should be assessed in further studies. Acknowledgment: Supported by a grant from the Doris Duke Foundation. References 1. Williams TN, Obaro SK. Sickle cell disease and malaria morbidity: a tale with two tails. Trends Parasitol 2011;27:315-20. 2. Grosse SD, Odame I, Atrash HK, Amendah DD, Piel FB, Williams TN. Sickle cell disease in Africa: a neglected cause of early childhood mortality. Am J Prev Med 2011;41:S398-405. 3. Makani J, Cox SE, Soka D, et al. Mortality in sickle cell anemia in Africa: a prospective cohort study in Tanzania. PLoS One 2011;6:e14699. 4. Charache S, Barton FB, Moore RD, et al. Hydroxyurea and sickle cell anemia. Clinical utility of a myelosuppressive "switching" agent. The Multicenter Study of Hydroxyurea in Sickle Cell Anemia. Medicine (Baltimore) 1996;75:300-26. 5. Sharef SW, Al-Hajri M, Beshlawi I, et al. Optimizing Hydroxyurea use in children with sickle cell disease: low dose regimen is effective. Eur J Haematol 2013. 6. Patel DK, Mashon RS, Patel S, Das BS, Purohit P, Bishwal SC. Low dose hydroxyurea is effective in reducing the incidence of painful crisis and frequency of blood transfusion in sickle cell anemia patients from eastern India. Hemoglobin 2012;36:409-20. Disclosures Ezekekwu: American Society of Hematology: Other: The Visitor training program was sponsored by ASH. Hsu: AstraZeneca steering committee for HESTIA trial: Research Funding. Gordeuk: Emmaus Life Sciences: Consultancy.

scholarly journals End points for sickle cell disease clinical trials: renal and cardiopulmonary, cure, and low-resource settings

2019 ◽  
Vol 3 (23) ◽  
pp. 4002-4020 ◽  
Author(s):  
Ann T. Farrell ◽  
Julie Panepinto ◽  
Ankit A. Desai ◽  
Adetola A. Kassim ◽  
Jeffrey Lebensburger ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Patient Reported Outcome ◽  
Cell Disease ◽  
End Points ◽  
Low Resource Settings ◽  
Low Resource ◽  
Patient Reported ◽  
The Us ◽  
American Society

Abstract To address the global burden of sickle cell disease and the need for novel therapies, the American Society of Hematology partnered with the US Food and Drug Administration to engage the work of 7 panels of clinicians, investigators, and patients to develop consensus recommendations for clinical trial end points. The panels conducted their work through literature reviews, assessment of available evidence, and expert judgment focusing on end points related to patient-reported outcome, pain (non–patient-reported outcomes), the brain, end-organ considerations, biomarkers, measurement of cure, and low-resource settings. This article presents the findings and recommendations of the end-organ considerations, measurement of cure, and low-resource settings panels as well as relevant findings and recommendations from the biomarkers panel.

Sensorineural hearing loss in sickle cell anaemia – a United Kingdom study

1993 ◽  
Vol 107 (9) ◽  
pp. 790-794 ◽  
Author(s):  
S. O. Ajulo ◽  
A. I. Osiname ◽  
H. M. Myatt
Keyword(s):  
Hearing Loss ◽  
Sickle Cell Disease ◽  
Sensorineural Hearing Loss ◽  
Sickle Cell ◽  
Sensorineural Hearing ◽  
Control Group ◽  
Cell Disease ◽  
The Us ◽  
The Uk ◽  
The Tropics

AbstractSensorineural hearing loss (SNHL) has been a well-documented complication of sickle cell disease in the literature from West Africa, West Indies, United States of America and the Middle East. We present a study of 52 patients with homozygous sickle cell disease and 36 control patients with haemoglobin genotype AA, matched for age and sex. Seven patients with sickle cell disease (13.5 per cent) were found to have sensorineural hearing loss i.e.>20 dB at two or more frequencies, while all the patients in the control group had normal hearing (p<0.05).Our study shows the incidence of SNHL in the UK to be similar to that reported in the US A and much lower than that found in malaria endemic areas of the tropics.We highlight the factors which we consider responsible for these differences and suggest that the crucial period in the development of SNHL in sickle cell disease may be intra-uterine or during the first few years of life. All sickle cell patients should be encouraged to have regular hearing assessment.

scholarly journals Comprehensive Sickle Cell Disease Management Is Associated with Superior Grade Attainment and High School Graduation Rates

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4692-4692
Author(s):  
Kirsten Schulte ◽  
Katrina Mikofalvy ◽  
Lauren Beck ◽  
Prasad V. Bodas
Keyword(s):  
High School ◽  
Sickle Cell Disease ◽  
Best Practices ◽  
Graduation Rates ◽  
Sickle Cell ◽  
High School Graduation ◽  
Cell Disease ◽  
High School Graduation Rates ◽  
School Graduation ◽  
Successful Students

Abstract Background: Sickle cell disease (SCD) in adolescents and young adults has been associated with low high school graduation rates. Complications of the disease may decrease school attendance, academic performance, and grade attainment. The graduation rate for patients with SCD enrolled in the Cooperative Study of Sickle Cell Disease (CSSD) was 71%. Poor educational outcomes might be due to a number of factors including socioeconomic status or days spent in the hospital due to illness. Neurological complications of SCD may also contribute. Stroke and microvascular ischemic events are detrimental to cognitive function and influence academic achievement and grade attainment. Patient and practitioner adherence to best practices, such as those described in the NHLBI 2014 guidelines vary widely, and the association of best practices with graduation rates has not been studied. We compared high school graduation rates of patients at Akron Children's Hospital Sickle Cell Disease Program (ACHSCDP) with national and local rates. Methods: We conducted a retrospective chart review of patients born between 1994 and 2000 who received care for all forms of SCD at ACHSCDP. Patients were identified through an onsite registry. Thirty-two patients were identified for chart review. We defined successful high school attainment as graduation from 12th grade, or having completed 11th grade by July 2018 and enrolled to begin 12th grade in Fall 2018, before or at 19 years of age. We determined successful high school attainment for patients at Akron Children's Hospital and assessed factors associated with success. Results: Patients born from 1994 to 2000 with sickle cell disease (SS, SC, SBeta-0, SBeta-+) were analyzed (n=32). Two patients transferred out of ACHSCDP prior to age 14 and were not included in our analysis. Of 30 patients studied, 14 were male and 16 were female. Twenty-six patients (86.7%) had graduated or were starting senior year as of July 2018. Of the 26 successful students, 12 (46.2%) had either an IEP or 504 (federally defined accommodation plan) in place. None of the 4 unsuccessful students had an IEP, however 1 student had a 504. Of the 26 successful students, 13 had HbSS, 1 had HbS/B o thal, 5 had HbS/B + thal, and 7 had HbSC. All 4 unsuccessful students had HbSS. Of the 26 successful students, clinical data from 4 years before graduation or 3 years before completion of the 11th grade revealed that the students were hospitalized an average of 5.77 days per year and visited the emergency department an average of 1.38 times per year. Of the 4 unsuccessful patients, data collected 4 years before the age of 19 revealed that the patients were hospitalized an average of 5.85 days per year and visited the emergency department an average of 1.37 times per year. Only one patient had a documented stroke, and this child successfully graduated from high school. Of the 26 successful students, 18 (69.2%) were enrolled in college after finishing high school and 3 students were in their senior year of high school. Discussion: In this cohort, a high percentage of patients (86.7%) graduated or were on track to graduate from high school. In the United States, approximately 90% of patients with SCD are African American. All patients analyzed here were African American. With this in mind, ACHSCDP patients' graduation rate compares favorably to estimated graduation rates across the US general population (84%), the U.S. African America population (76%), the U.S. sickle cell patient population (71%), the Ohio general population (84%), and the Ohio African American population (68%). The higher graduation rate among children at the ACHSCDP is associated with a multidisciplinary care model that prioritizes optimal hematologic care adhering to evidence based best practices including stroke risk screening and prevention, and use of hydroxyurea. In addition, team members assess for educations status and disease specific limitations at each encounter. A social worker advocates for educational needs. An outreach nurse makes school visits to educate staff and assist with implementation of federal accommodation plans. A teacher is available during inpatient stays to provide education in coordination with the patients' school. With comprehensive care, SCD is not a barrier to successful grade attainment, and academic distress in SCD patients should prompt re-evaluation of the patient's holistic medical care. Disclosures No relevant conflicts of interest to declare.

Utilization and Costs of Deferoxamine in Patients with Thalassemia, Sickle-Cell Disease, or Myelodysplastic Syndrome Receiving Frequent Transfusions.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 5583-5583
Author(s):  
Thomas E. Delea ◽  
May Hagiwara ◽  
Simu K. Thomas ◽  
Jean-Francois Baladi ◽  
Pradyumna D. Phatak ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Drug Acquisition ◽  
Iron Chelator ◽  
Cell Disease ◽  
Total Cost ◽  
The Us ◽  
Health Insurance Claims ◽  
Using Data

Abstract Background. Patients with thalassemia, sickle-cell disease (SCD), and myelodysplastic syndromes (MDS) receiving frequent transfusions require chelation therapy to prevent complications of iron overload. Deferoxamine (DFO) is an effective iron chelator that has been shown to reduce the morbidity and mortality associated with transfusional hemosiderosis. Data on the utilization and costs of DFO treatment are limited however. The objective of this study was to document the utilization and costs of DFO therapy in patients with transfusion-dependent anemias seen in typical clinical practice. Methods. Retrospective, observational study using data from large health insurance claims database spanning 1/97–12/04 (“study period”) and representing approximately 40 million members enrolled in &gt;70 health plans across the US. Study subjects included members meeting the following criteria: ≥1 claims with diagnosis of thalassemia (282.4x), SCD (282.6x ), or MDS (ICD-9-CM 238.7x); ≥8 claims (on different days) for a transfusion of whole blood or red cells; ≥2 claims (on different days) for DFO. Follow-up was defined as the period from the date of first DFO claim (“index date”) to end of study period, disenrollment, or 15 days after last claim for DFO, whichever occurred first. Outcomes included the number of claims for DFO and grams of DFO dispensed and the costs of DFO therapy, including costs of drug acquisition and administration. Outcomes were analyzed by qualifying diagnosis, numbers of transfusions received, and grams of DFO dispensed. Results. We identified 155 subjects who met all inclusion criteria, including 35 with thalassemia, 68 with SCD, and 52 with MDS. On average, patients received one transfusion every 3.4 weeks of follow-up. Mean DFO grams dispensed were 306 per year. MDS patients received the most transfusions but the least DFO. Only 38% of MDS patients received ≥3 g of DFO per week (≥156 g per year). Mean total DFO costs were $18,025 annually ($10,217 for drug and $7,808 for administration). Controlling for other factors, utilization of DFO was not associated with number of transfusions received; administration costs were only weakly associated with amount of DFO received. Thalassemia SCD MDS All Values are Mean±SD N 35 68 52 155 Follow-up, days 612 ± 481 420 ± 403 274 ± 336 414 ± 418 Age, years 19 ± 12 17 ± 11 63 ± 11 33 ± 24 Transfusions per year 15 ± 7 12 ± 4 24 ± 13 16 ± 10 DFO claims per year 29 ± 34 41 ± 46 30 ± 20 34 ± 37 DFO grams per year 311 ± 233 343 ± 243 223 ± 234 306 ± 241 Cost DFO acquisition, $ per year 10,287 ± 8,264 11,625 ± 8,339 7,293 ± 7,543 10,217 ± 8,207 Cost DFO administration, $ per year 7,674 ± 11,503 9,109 ± 8,177 5,403 ± 5,649 7808 ± 8,438 Total cost of DFO, $ per year 17,961 ± 17,047 20,734 ± 12,114 12,696 ± 10,886 18,025 ± 13,348 Conclusion: In this population of frequently transfused patients (mean 16 transfusions per year), utilization of DFO was low (mean &lt;1 gram per day) suggesting inadequate chelation. Costs of DFO administration were high, representing approximately 43% of the total cost of chelation.

scholarly journals Theme-Based Instruction: Making Conceptual Ties with the Sickle Cell Story

2010 ◽  
Vol 72 (7) ◽  
pp. 422-426 ◽  
Author(s):  
Sherry S. Herron ◽  
John Parr ◽  
Bridgette Davis ◽  
Parker Nelson
Keyword(s):  
High School ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High School Biology ◽  
Cell Disease ◽  
Biology Teachers ◽  
Based Instruction

We describe the concepts and resources presented during a workshop offered to high school biology teachers using sickle cell disease as a theme in a biology course. We provide their pretest and posttest results and reactions.

scholarly journals Use of large scale EHR data to evaluate A1c utilization among sickle cell disease patients

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Shivani Sivasankar ◽  
An-Lin Cheng ◽  
Ira M. Lubin ◽  
Kamani Lankachandra ◽  
Mark A. Hoffman
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Large Scale ◽  
Hemoglobin A1c ◽  
Glycated Hemoglobin ◽  
The United States ◽  
Cell Disease ◽  
Healthcare Facilities ◽  
The Us ◽  
Lab Test

Abstract Background The glycated hemoglobin (A1c) test is not recommended for sickle cell disease (SCD) patients. We examine ordering patterns of diabetes-related tests for SCD patients to explore misutilization of tests among this underserved population. Methods We used de-identified electronic health record (EHR) data in the Cerner Health Facts™ (HF) data warehouse to evaluate the frequency of A1c and fructosamine tests during 2010 to 2016, for 37,151 SCD patients from 393 healthcare facilities across the United States. After excluding facilities with no A1c data, we defined three groups of facilities based on the prevalence of SCD patients with A1c test(s): adherent facilities (no SCD patients with A1c test(s)), minor non-adherent facilities, major non-adherent facilities. Results We determined that 11% of SCD patients (3927 patients) treated at 393 facilities in the US received orders for at least one A1c test. Of the 3927 SCD patients with an A1c test, only 89 patients (2.3%) received an order for a fructosamine test. At the minor non-adherent facilities, 5% of the SCD patients received an A1c test while 58% of the SCD patients at the least adherent facilities had at least one A1c test. Overall, the percent of A1c tests ordered for SCD patients between 2010 and 2016 remained similar. Conclusions Inappropriate A1c test orders among a sickle cell population is a significant quality gap. Interventions to advance adoption of professional recommendations that advocate for alternate tests, such as fructosamine, can guide clinicians in test selection to reduce this quality gap are discussed. The informatics strategy used in this work can inform other largescale analyses of lab test utilization using de-identified EHR data.

scholarly journals A Novel Next-Generation Sequencing Based Assay for Non-Invasive Prenatal Testing of Sickle Cell Disease without Paternal DNA

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 2369-2369
Author(s):  
Nelda Itzep ◽  
Celeste K Kanne ◽  
David Tsao ◽  
Oguzhan Atay ◽  
Vivien A Sheehan
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Beta Thalassemia ◽  
Cell Disease ◽  
Advisory Committees ◽  
Non Invasive ◽  
The Us ◽  
Allele Fraction

Abstract Introduction: Over 300,000 infants are born with sickle cell disease (SCD) every year worldwide, including at least 1,000 in the US. Prenatal diagnosis by amniocentesis or chorionic villus sampling is available; but high cost, invasiveness, and risk of miscarriage limit their use. Recently, non-invasive prenatal testing (NIPT) has become commonplace for aneuploidies, including Trisomy 21. These non-invasive tests operate by genetic analysis of the cell-free fetal DNA (cffDNA) present in maternal blood. The safety and accuracy of NIPT have been key drivers for its rapid and widespread adoption. Yet, no NIPT for SCD or other hemoglobinopathies have been commercialized to date, despite the large numbers of patients affected in the US and worldwide. While de novo mutations can only be of fetal origin and can be identified by available next-generation sequencing (NGS) methods, NIPT for recessively inherited disorders is more challenging. This is because a mother who is a carrier for a recessive disorder contributes a high level of background pathogenic DNA molecules. Therefore, a key technical challenge of NIPT for recessive disorders is developing an assay sensitive enough to detect <5% deviation from 50% allele fraction. To overcome this challenge, we have developed and optimized an NIPT for SCD by assessing the relative mutation dosage of fetal SCD and beta-thalassemia DNA through a novel molecular counting strategy using NGS. Objectives: The primary objective of this study is to evaluate the performance of a novel NIPT for sickle cell disease. Methods: The SCD NIPT assay and associated custom bioinformatics analysis were performed on cfDNA obtained from a training cohort of non-pregnant compound heterozygotes for SCD. The SCD NIPT assay was then performed on a validation cohort of pregnant women with either SCD or sickle cell trait (SCT). The accuracy of the SCD NIPT was evaluated by comparison with newborn screening results. Results: Non-pregnant individuals with genotype HbSE, HbSC, or HbS/beta-thalassemia were included as a training cohort to establish the precision and accuracy of the assay for measuring HbS allele fraction from cfDNA. As expected, the HbS allele fraction in these individuals was 0.500 (standard deviation = 0.011, n = 26), and there was no detectable fetal fraction in these samples. Both training and validation cohort results matched the theoretical limit of detection set by the number of cell-free HBB DNA molecules in plasma. The precision and accuracy of the HBB assay on cfDNA were then used in conjunction with >1000 pre-clinical samples (mixtures of sheared SCT and SCD genomic DNA) to determine analytical sensitivity >98% and specificity >99%, even in the absence of paternal DNA. Conclusion: We have developed an assay for non-invasive prenatal testing of sickle cell disease. The results obtained to date indicate that the assay reliably detects fetal SCD when the fetal fraction is as low as 5%, the same limit as aneuploidy NIPT. A fetus with SCD has already been identified, and follow-up is ongoing with >20 pregnancies. Since the HBB NIPT is highly targeted, sequencing cost is <$30 per sample. The ability to ascertain fetal SCD status based only on maternal blood will be valuable in clinical settings where the father is unavailable or sample collection would be inconvenient or time-consuming. Several Phase I/II and Phase III trials for curing SCD or beta-thalassemia using autologous gene-editing of stem cells are currently in progress. SCD NIPT could be particularly useful for deciding to bank umbilical cord blood as a source of stem cells for future gene-editing cures. Disclosures Tsao: BillionToOne: Employment, Equity Ownership, Membership on an entity's Board of Directors or advisory committees, Patents & Royalties. Atay:BillionToOne: Employment, Equity Ownership, Membership on an entity's Board of Directors or advisory committees, Patents & Royalties.

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