scholarly journals Cardiovascular benefits of a home-based exercise program in patients with sickle cell disease

PLoS ONE ◽  
2021 ◽  
Vol 16 (5) ◽  
pp. e0250128
Author(s):  
Jonas Alves de Araujo Junior ◽  
Daniele Andreza Antonelli Rossi ◽  
Taina Fabri Carneiro Valadão ◽  
Juliana Cristina Milan-Mattos ◽  
Aparecida Maria Catai ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Physical Exercise ◽  
Sickle Cell ◽  
Exercise Program ◽  
Cardiovascular Function ◽  
Exercise Group ◽  
Cell Disease ◽  
Home Based ◽  
Cardiovascular Tests ◽  
The Impact

Background Physical inactivity is an important risk factor for cardiovascular disease. The benefits of exercise in patients with chronic diseases, including cardiovascular diseases, are well established. For patients with sickle cell disease, medical recommendation was to avoid physical exercise for fear of triggering painful crises or increasing the impairment of the cardiopulmonary function. Only recently, studies have shown safety in exercise programs for this population. Despite that, there is no report that assess the effects of physical exercise on cardiac parameters in patients with sickle cell disease. Objective This study aimed to evaluate the impact of regular physical exercise (a home-based program) on cardiovascular function in patients with sickle cell disease. Design A quasi-randomized prospective controlled trial. Setting During the years 2015 and 2016, we started recruiting among adult patients treated at a Brazilian Center for Patients with Sickle Cell Disease to participate in a study involving a home exercise program. The experimental (exercise) and control groups were submitted to clinical evaluation and cardiovascular tests before and after the intervention. Analysis of variance was applied to compare groups, considering time and group factors. Participants Twenty-seven adult outpatients with a sickle cell disease diagnosis. Interventions Exercise group (N = 14): a regular home-based aerobic exercise program, three to five times per week not exceeding give times per week, for eight weeks; no prescription for the control group (N = 13). Main outcome measures Echocardiographic and treadmill test parameters. Results The exercise group showed significant improvement in cardiovascular tests, demonstrated by increased distance traveled on a treadmill (p<0.01), increased ejection fraction (p < 0.01) and improvement of diastolic function assessed by mitral tissue Doppler E’ wave on echocardiography (p = 0.04). None of the patients presented a sickle cell crisis or worsening of symptoms during the exercise program. Conclusion The selected home-based exercise program is safe, feasible, and promotes a favorable impact on functional capacity and cardiovascular function in sickle cell disease patients.

scholarly journals Sickle Cell Disease Model Mice Lacking 2,3-Dpg Show Reduced RBC Sickling and Improvements in Markers of Hemolytic Anemia

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 27-28
Author(s):  
Kelly M. Knee ◽  
Amey Barakat ◽  
Lindsay Tomlinson ◽  
Lila Ramaiah ◽  
Zane Wenzel ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Blood Cell ◽  
Hemolytic Anemia ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Organ Damage ◽  
Complete Elimination ◽  
Cell Disease ◽  
The Impact ◽  
2,3 Dpg

Sickle cell disease (SCD) is a severe genetic disorder caused by a mutation in hemoglobin (b6Glu-Val), which allows the mutant hemoglobin to assemble into long polymers when deoxygenated. Over time, these polymers build up and deform red blood cells, leading to hemolytic anemia, vaso-occlusion, and end organ damage. A number of recent therapies for SCD have focused on modulating the mutant hemoglobin directly, however, reduction or elimination of 2,3-DPG to reduce Hb S polymerization and RBC sickling has recently been proposed as a therapeutic strategy for SCD. Current clinical studies focus on activation of pyruvate kinase to reduce 2,3-DPG, however, direct targeting of the enzyme which produces 2,3-DPG; Bisphosphoglycerate Mutase (BPGM) may also be possible. In this study we evaluate the impact of elimination of 2,3-DPG on SCD pathology by complete knockout of BPGM in Townes model mice. Animals with complete knockout of BPGM (BPGM -/-) have no detectable 2,3-DPG, while animals that are heterozygous for BPGM (BPGM -/+) have 2,3-DPG levels comparable to Townes mice. Western Blot analysis confirms that BPGM -/- animals completely lack BPGM, while BPGM -/+ animals have BPGM levels that are nearly equivalent to Townes mice. As expected from the lack of 2,3-DPG, BPGM -/- animals have increased oxygen affinity, observed as a 39% decrease in p50 relative to Townes mice. Complete elimination of 2,3-DPG has significant effects on markers of hemolytic anemia in BPGM -/- mice. Mice lacking 2,3-DPG have a 60% increase in hemoglobin (3.7 g/dL), a 53% increase in red blood cell count, and a 29% increase in hematocrit relative to Townes mice. The BPGM -/- mice also have a 57% decrease in reticulocytes, and a 61% decrease in spleen weight relative to Townes animals, consistent with decreased extramedullary hematopoiesis. Consistent with the reduction in hemolysis, BPGM -/- animals had a 59% reduction in red blood cell sickling under robust hypoxic conditions. BPGM -/+ animals had hemoglobin, RBC, and hematocrit levels that were similar to Townes animals, and a similar degree of RBC sickling to Townes mice. Liver phenotype was similar across all variants, with areas of random necrosis observed in BPGM -/-, BPGM -/+ and Townes mice. Higher percentages of microcytic and/or hyperchromic RBCs were observed in BPGM -/- animals relative to BPGM -/+ or Townes animals. These results suggest that modulation of 2,3-DPG has a positive effect on RBC sickling and hemolytic anemia, which may have therapeutic benefits for SCD patients. However, the lack of improvement in organ damage suggests that modulation of 2,3-DPG alone may not be sufficient for complete elimination of SCD phenotypes, and further investigation of this therapeutic avenue may be necessary. Disclosures No relevant conflicts of interest to declare.

Social Work Perspective

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 903-905
Author(s):  
Sandra Hernandez
Keyword(s):  
New York ◽  
Chronic Illness ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
New York State ◽  
Early Years ◽  
Cell Disease ◽  
York State ◽  
The Impact

The ultimate objective of newborn screening for sickle cell disease should be twofold. The first essential step is the identification of the infants at risk. This has been effectively done in New York state as of 1975 through the New York State Newborn Screening Program. However, identifying these children is not enough. Second is the much more complicated task of providing comprehensive follow-up care for families whose children are affected by the disease, including the much needed psychosocial services. This area continues to be sorely neglected. The increased risk of death due to overwhelming infection in the first 3 years of life for children with sickle cell disease has been noted in the literature. When there is no specialized care, 15% to 20% do not survive. Therefore, it is essential for knowledgeable staff to make contact and begin to develop a trusting relationship as soon as possible with parents of infants born with sickle cell disease. Prophylactic penicillin and pneumococcal vaccination can reduce mortality during the early years. Family involvement with a consistent, available team of health care providers is pivotal in understanding this chronic illness and coping effectively with this extraordinary stress. Our staff is available by telephone for consultations with patients or other medical staff during clinic and emergency room visits and hospitalizations. One element that is clear in our experience at the St Luke's-Roosevelt Hospital Sickle Cell Center in New York City is that adjustment to this chronic illness is a lifelong process. One or two counseling sessions at the time of diagnosis are not sufficient to enable families to fully understand the information given or to realize the impact of having a child with a chronic illness.

Clinical Transformation in Care for Patients With Sickle Cell Disease at an Urban Academic Medical Center

2019 ◽  
Vol 35 (3) ◽  
pp. 236-241
Author(s):  
Sanaa Rizk ◽  
David Axelrod ◽  
Gaye Riddick-Burden ◽  
Elisabeth Congdon-Martin ◽  
Steven McKenzie ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Case Studies ◽  
Sickle Cell ◽  
Academic Medical Center ◽  
Thomas Jefferson ◽  
Cell Disease ◽  
Observation Unit ◽  
Quantitative Analyses ◽  
Clinical Transformation ◽  
The Impact

This article demonstrates effects on utilization of a clinical transformation: changing locus of care from a dedicated sickle cell day unit to an approach that “fast-tracks” patients through the emergency department (ED) into an observation unit with 24/7 access. Retrospective quantitative analyses of claims and Epic electronic medical record data for patients with sickle cell disease treated at Thomas Jefferson University (inpatient and ED) assessed effects of the clinical transformation. Additionally, case studies were conducted to confirm and deepen the quantitative analyses. This study was approved by the Thomas Jefferson University Institutional Review Board. The quantitative analyses show significant decreases in ED and inpatient utilization following the transformation. These effects likely were facilitated by increased observation stays. This study demonstrated the impact on utilization of transformation in care (from dedicated day unit to an approach that fast-tracks patients into an observation unit). Additional case studies support the quantitative findings.

Hydroxyurea can be used in children with sickle cell disease and cerebral vasculopathy for the prevention of chronic complications? A meta-analysis

2019 ◽  
Vol 24 (1) ◽  
pp. 64-77
Author(s):  
Ramiro Manzano Núñez ◽  
Carlos Andrés Portilla Figueroa ◽  
Herney Andrés García-Perdomo
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Lower Risk ◽  
Meta Analysis ◽  
Risk Difference ◽  
Cell Disease ◽  
High Quality Research ◽  
Abnormal Hemoglobin ◽  
High Concentrations ◽  
The Impact

We conducted a systematic review for evaluating the impact of hydroxyurea and chronic blood transfusion in children with sickle cell disease (SCD). A search was done in four databases from inception to 2017. Trials enrolling pediatric patients with SCD and cerebral vasculopathy with or without previous episode of stroke and that reported outcomes of occurrence of stroke and other events were included. Trained reviewers determined eligibility, risk of bias, and abstracted data. Random-effects meta-analysis was conducted. We found that the primary outcome was the occurrence of stroke. We found two trials that recruited 254 patients. No difference was found for confirmed stroke occurrence (risk difference 0.04 [95% CI: −0.03 to 0.03]) and for new-onset neurological deficit (risk difference 0.11 [95% CI: −0.00 to 0.21]). Transfusions provided a significant lower risk of vaso-occlussive crisis (risk difference 0.10 [95% CI: 0.001 to 0.20]). Finally, transfusions provided a lower risk of having high concentrations of abnormal hemoglobin S (mean difference 37.94 [95% CI: 27.55 to 48.32]). As a conclusion, transfusions plus chelation therapy might be used instead of hydroxyurea in children with SCD. There is a lack of high-quality research in the care of children with SCD, and therefore a call for action is needed.

scholarly journals The Relationship between Health Disparities, Psychosocial Functioning and Health Outcomes in Pediatric Hematology-Oncology and Stem Cell Transplant Populations: Recommendations for Clinical Care

2020 ◽  
Vol 17 (7) ◽  
pp. 2218
Author(s):  
Evrosina I. Isaac ◽  
Andrea R. Meisman ◽  
Kirstin Drucker ◽  
Stephanie Violante ◽  
Kathryn L. Behrhorst ◽  
...  
Keyword(s):  
Health Disparities ◽  
Chronic Illness ◽  
Sickle Cell Disease ◽  
Health Outcomes ◽  
Sickle Cell ◽  
Psychosocial Functioning ◽  
Cell Transplant ◽  
Cell Disease ◽  
Vulnerable Patient ◽  
The Impact

Not only do racial and ethnic minority children and adolescents with chronic illness experience disparities in health status and health outcomes, they also experience significant healthcare disparities, including differences in healthcare coverage, access to care, and quality of care. It is well known that the interaction between psychosocial functioning, health behaviors and ethnic and racial disparities, ultimately leads to worse health and psychosocial outcomes in pediatric and AYA chronic illness patient populations, including increased rates of morbidity and mortality. Investigating the impact of racial and ethnic factors on health outcomes, and strategies for reducing these disparities, is of the utmost importance, specifically in life-threatening conditions like cancer and sickle cell disease. This commentary underscores the relative importance of identifying factors that could reduce disparities between minority and non-minority populations. This present paper will focus on the dynamic relationships between health disparities, psychosocial factors and health outcomes within pediatric cancer, sickle cell disease and bone marrow transplant populations, and will offer recommendations for healthcare professionals working with these vulnerable patient populations. The primary goal of this commentary is to provide recommendations for enhancing cultural competency and humility for those working with highly vulnerable patient populations.

scholarly journals Voxelotor Treatment Interferes With Quantitative and Qualitative Hemoglobin Variant Analysis in Multiple Sickle Cell Disease Genotypes

2020 ◽  
Vol 154 (5) ◽  
pp. 627-634
Author(s):  
Nicola J Rutherford-Parker ◽  
Sean T Campbell ◽  
Jennifer M Colby ◽  
Zahra Shajani-Yi
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Performance ◽  
Clinical Laboratory ◽  
The United States ◽  
Cell Disease ◽  
Hemoglobin Variant ◽  
Hbd Punjab ◽  
The Impact

Abstract Objectives Voxelotor was recently approved for use in the United States as a treatment for sickle cell disease (SCD) and has been shown to interfere with the quantitation of hemoglobin (Hb) S percentage. This study aimed to determine the effect of voxelotor on the quantitation of hemoglobin variant levels in patients with multiple SCD genotypes. Methods In vitro experiments were performed to assess the impact of voxelotor treatment on hemoglobin variant testing. Whole blood samples were incubated with voxelotor and then analyzed by routinely used quantitative and qualitative clinical laboratory methods (high-performance liquid chromatography [HPLC], capillary zone electrophoresis [CZE], and acid and alkaline electrophoresis). Results Voxelotor modified the α-globin chain of multiple hemoglobins, including HbA, HbS, HbC, HbD-Punjab, HbE, HbA2, and HbF. These voxelotor-hemoglobin complexes prevented accurate quantitation of multiple hemoglobin species, including HbS, by HPLC and CZE. Conclusions Technical limitations in quantifying HbS percentage may preclude the use of HPLC or CZE for monitoring patients treated with voxelotor. Furthermore, it is unclear whether HbS-voxelotor complexes are clinically equivalent to HbS. Consensus guidelines for reporting hemoglobin variant percentages for patients taking voxelotor are needed, as these values are necessary for determining the number of RBC units to exchange in acute situations.

scholarly journals Beneficial effects of adenotonsillectomy in children with sickle cell disease

2020 ◽  
Vol 6 (4) ◽  
pp. 00071-2020
Author(s):  
Ilaria Liguoro ◽  
Michele Arigliani ◽  
Bethany Singh ◽  
Lisa Van Geyzel ◽  
Subarna Chakravorty ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Arterial Oxygen Saturation ◽  
Arterial Oxygen ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Beneficial Effects ◽  
Admission Rates ◽  
The Mean ◽  
The Impact

Tonsillectomy and adenoidectomy (T&A) is frequently performed in children with sickle cell disease (SCD). Our aim was to evaluate the impact of this surgery on overnight oxygenation and rates of complications in these patients.Children with SCD who underwent T&A between 2008 and 2014 in two tertiary hospitals were retrospectively evaluated. Overnight oximetry and admission rates due to vaso-occlusive pain episodes (VOEs) and acute chest syndrome (ACS) in the year preceding and following the surgery were compared.19 patients (10 males, 53%) with a median age of 6 years (range 3.5–8) were included. A significant increase of mean overnight arterial oxygen saturation measured by pulse oximetry (SpO2) (from 93±3.6% to 95.3±2.8%, p=0.001), nadir SpO2 (from 83.0±7.1% to 88±4.1%, p=0.004) and a reduction of 3% oxygen desaturation index (from a median value of 5.7 to 1.8, p=0.003) were shown. The mean annual rate of ACS decreased from 0.6±1.22 to 0.1±0.2 events per patient-year (p=0.003), while the mean cumulative rate of hospitalisations for all causes and the incidence of VOEs were not affected.T&A improved nocturnal oxygenation and was also associated with a reduction in the incidence of ACS at 1-year follow-up after surgery.

Sickle cell maculopathy: prevalence, associations and impact on visual acuity

2020 ◽  
Author(s):  
Haroen Sahak ◽  
Mohammed Saqalain ◽  
Pooi Lott ◽  
Martin Mckibbin
Keyword(s):  
Visual Acuity ◽  
Sickle Cell Disease ◽  
Visual Impairment ◽  
Sickle Cell ◽  
Consecutive Series ◽  
High Contrast ◽  
Cell Disease ◽  
Spectral Domain Oct ◽  
Frequent Finding ◽  
The Impact

Aims: To investigate the prevalence of sickle cell maculopathy (SCM), associations with age, sex, genotype and proliferative sickle cell retinopathy (PSR) stage and the impact on visual acuity Methods: Age, sex and visual acuity were recorded and spectral domain OCT and ultra-widefield images of the macula and retina were reviewed for a consecutive series of 74 adults with sickle cell disease Results: The median age was 37 years (range 19-73 years) and 36 cases (48.6%) were male. SCM was present in at least one eye of 40 cases (54.1%) or in 67 of all eyes (42.3%). SCM prevalence was 54.8%, 62.5% and 25% for HbSS, HbSC and HbS/BThal or other genotypes respectively. SCM was observed in 41 (39.4%) of the eyes with PSR stages 0,1,2 and 21 (51.2%) of the eyes with PSR stages 3,4,5. Mild visual impairment or worse was present in 3 eyes (4.8%) with SCM but this was secondary to other pathology. Conclusion: SCM is a frequent finding in eyes of adults with sickle cell disease. The prevalence is similar for both HbSS and HbSC genotypes and is not related to the PSR stage. High-contrast distance visual acuity is typically preserved.

Autoantibody Formation and Alloimunization in Sickle Cell Disease Patients.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4099-4099
Author(s):  
Marcia C.Z. Novaretti ◽  
Eduardo Jens ◽  
Thiago Pagliarini ◽  
Andreia L. Rodrigues ◽  
Pedro E. Dorlhiac-Llacer ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Study Group ◽  
Cell Disease ◽  
The One ◽  
Design And Methods ◽  
The Impact ◽  
Transfusion History ◽  
Autoantibody Formation

Abstract Background: Alloantibody and autoantibody formation to red blood cell (RBC) antigens is one of the observed complications in sickle cell disease patients (SCD). The incidence of alloimmunization and autoantibodies in this selected group of patients is particularly high, although the clinical implication of autoantibodies in sickle cell disease patients is not clear. The purpose of this study is to evaluate the rate of alloantibody and autoantibody formation in SCD patients. Study design and methods: A retrospective analysis of transfused sickle cell disease patients followed at Fundacao Pro-Sangue Hemocentro de Sao Paulo between 1988 and 2004 were retrieved. Data on transfusion history, were correlated with development of alloantibodies and autoantibodies. Results: The study group was composed by 43 sickle cell disease patients followed for a mean of 89 months (22–116). The number of RBC units transfused (mean) was 64 (4–208). The development of the first alloantibody was detected after a mean of 40 months (1–107) after the first transfusion in our institution. Out of these patients, 31 (72.1%) were identified with RBC alloantibodies; 9 of these patients (21%) had both allo and autoantibodies to RBC antigens, whereas 5 (55.6%) developed autoantibodies after alloimmunization. The one remainder had only autoantibodies. Conclusion: The alloimmunization rate was extremely high (72.1%) and can be partially explained because of the extended time of follow-up (mean of 89 months). Different from the literature the development of autoantibodies preceeded alloantibodies in 44.4%. The impact of this observation in clinical practice warrants further investigation.

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