Sickle Cell News for November 2015
Chevron Corp. is continuing its support of the Angola Sickle Cell Initiative by committing an additional $5 million endowment over the course of five years.
The oil and gas company, which initially contributed $4 million to support the program’s launch and pilot phase in 2011, made the official announcement of the additional funding in September at a signing ceremony in Luanda, Angola, where organization leaders and the nation’s officials joined together to celebrate the program’s success and outline future goals.
“One of the things I try to emphasize is that health should be looked at from a global perspective. Health is no longer local or regional,” said Ali Moshiri, president of Chevron Africa and Latin America Exploration and Production. “Today we live in a globalized environment. We may still have political boundaries, but when it comes to health, that is a fungible issue. That means that a disease outbreak could spread beyond borders. Therefore, global health is an issue that we must all embrace.”
The Angola Sickle Cell Initiative was born out of an initial meeting with Angola’s First Lady Ana Paula dos Santos and Moshiri at the African First Ladies Health Summit in Los Angeles in 2009. The meeting soon turned into a conversation about how Chevron one of the largest oil and gas producers in Angola could help tackle a serious health problem in her nation: sickle cell disease.
New Book for Patients and Family members
Judy Gray Johnson has been living with Sickle Cell for more than 70 years. Other books by the author are Living with Sickle Cell Disease: the Struggle to Survive and Resilience: A Personal Story of Coping with the Ravages of Sickle Cell Disease gainst All Odds. Judy lives in Valencia, California and continues to advocate in the cause of finding real quality of life changes for those suffering with Sickle Cell.
New Web Resource from NICHQ National Institute For Children's Health Quality
Sickle cell in the Medical Literature
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J Am Soc Nephrol. 2015 Nov 19. pii: ASN.2014111126. [Epub ahead of print]
Bartolucci P1, Habibi A2, Stehlé T3, Di Liberto G4, Rakotoson MG4, Gellen-Dautremer J2, Loric S5, Moutereau S5, Sahali D6, Wagner-Ballon O7, Remy P6, Lang P6, Grimbert P6, Audureau E8, Godeau B9, Galacteros F10, Audard V11.
Abstract
The earliest symptom of glomerular injury in patients with sickle cell disease (SCD) is microalbuminuria. The effect of hydroxyurea (HU) on urine albumin-to-creatinine ratio (ACR) is unclear and should be determined, because increasing numbers of patients with SCD take this drug to improve red blood cell function. In this cohort study of 58 SS-homozygous adults with SCD who initiated HU therapy, we evaluated ACR changes and relationships of these changes with demographic, clinical, and biologic parameters at HU initiation (baseline) and 6 months later (follow-up). Between baseline and follow-up, ACR declined significantly for the entire population (3.0-1.7 mg/mmol; P<0.01), but this was primarily driven by the ACR reduction in the microalbuminuria subgroup (8.1-2.3 mg/mmol; P=0.03; n=23). According to bivariate analyses on 39 patients who did not receive a blood transfusion during the study period, the baseline to follow-up ACR decline was strongly associated with decreases in levels of hemolysis markers, percentage of dense red blood cells, and systolic BP. Bivariate analysis also revealed a close association between the ACR decrease and high baseline levels of hemolysis markers and percentage of dense red blood cells. These results show that urine ACR decreased significantly after 6 months of HU and confirm a close relationship between ACR and hemolysis evolution in patients with SCD.
Copyright © 2015 by the American Society of Nephrology.
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PMID: 26586692 [PubMed - as supplied by publisher]
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PLoS One. 2015 Nov 17;10(11):e0141706. doi: 10.1371/journal.pone.0141706. eCollection 2015.
Fitzhugh CD1,2, Hsieh MM1, Allen D2, Coles WA1, Seamon C2, Ring M3, Zhao X4, Minniti CP2, Rodgers GP1, Schechter AN5, Tisdale JF1, Taylor JG 6th2.
Abstract
BACKGROUND:
Adults with sickle cell anemia (HbSS) are inconsistently treated with hydroxyurea.
OBJECTIVES:
We retrospectively evaluated the effects of elevating fetal hemoglobin with hydroxyurea on organ damage and survival in patients enrolled in our screening study between 2001 and 2010.
METHODS:
An electronic medical record facilitated development of a database for comparison of study parameters based on hydroxyurea exposure and dose. This study is registered with ClinicalTrials.gov, number NCT00011648.
RESULTS:
Three hundred eighty-three adults with homozygous sickle cell disease were analyzed with 59 deaths during study follow-up. Cox regression analysis revealed deceased subjects had more hepatic dysfunction (elevated alkaline phosphatase, Hazard Ratio = 1.005, 95% CI 1.003-1.006, p<0.0.0001), kidney dysfunction (elevated creatinine, Hazard Ratio = 1.13, 95% CI 1.00-1.27, p = 0.043), and cardiopulmonary dysfunction (elevated tricuspid jet velocity on echocardiogram, Hazard Ratio = 2.22, 1.23-4.02, p = 0.0082). Sixty-six percent of subjects were treated with hydroxyurea, although only 66% of those received a dose within the recommended therapeutic range. Hydroxyurea use was associated with improved survival (Hazard Ratio = 0.58, 95% CI 0.34-0.97, p = 0.040). This effect was most pronounced in those taking the recommended dose of 15-35 mg/kg/day (Hazard Ratio 0.36, 95% CI 0.17-0.73, p = 0.0050). Hydroxyurea use was not associated with changes in organ function over time. Further, subjects with higher fetal hemoglobin responses to hydroxyurea were more likely to survive (p = 0.0004). While alkaline phosphatase was lowest in patients with the best fetal hemoglobin response (95.4 versus 123.6, p = 0.0065 and 96.1 versus 113.6U/L, p = 0.041 at first and last visits, respectively), other markers of organ damage were not consistently improved over time in patients with the highest fetal hemoglobin levels.
CONCLUSIONS:
Our data suggest that adults should be treated with the maximum tolerated hydroxyurea dose, ideally before organ damage occurs. Prospective studies are indicated to validate these findings.
Free Article
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PMID: 26576059 [PubMed - in process]
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Pediatr Blood Cancer. 2015 Nov 17. doi: 10.1002/pbc.25838. [Epub ahead of print]
Abstract
BACKGROUND:
Children with sickle cell disease (SCD) are at higher risk for deficits in cognition compared to the general population, even at young ages. Disease severity has been co-assessed in earlier studies, but the home environment has not. The purpose of the current study was to investigate the development of young children with SCD and secondarily, the impact of environmental and family factors.
METHODS:
The current study is a baseline cross-sectional evaluation of a prospective, single-center cohort. Children with SCD between the ages of 1 and 42 months and their primary caregiver were included. Participants lived within 30 miles of the site and spoke English. Children underwent developmental evaluation using the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III). Home visits were completed and screened using the Home Observation for Measurement of the Environment (HOME).
RESULTS:
Over 3 years, 43 caregiver-child dyads consented and participated. Over 50% of children scored significantly below average on cognition and expressive language subscales. SCD severity was not associated with BSID-III scores. Socioeconomic status (SES) determined by the Diez-Roux method positively correlated (r = 0.401, P < 0.01) with the home environment. The HOME correlated (r = 0.360, P < 0.05) with the cognitive subscale on the BSID-III.
CONCLUSIONS:
Given the high prevalence of developmental delay in this population, identifying modifiable factors to maximize developmental progress is essential. The home environment would be a targeted method for intervention. Future research is needed to identify the benefits of home-based intervention for this population.
© 2015 Wiley Periodicals, Inc.
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PMID: 26575319 [PubMed - as supplied by publisher]
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Health Qual Life Outcomes. 2015 Nov 16;13(1):183. doi: 10.1186/s12955-015-0380-8.
Ahmed AE1,2, Alaskar AS3,4,5, Al-Suliman AM6, Jazieh AR7, McClish DK8, Al Salamah M9,10, Ali YZ11, Malhan H12, Mendoza MA13, Gorashi AO14, El-Toum ME15, El-Toum WE16.
Abstract
BACKGROUND:
There is a lack of research concerning health-related quality of life (HRQoL) in Saudi patients with sickle cell disease (SCD), particularly among adult populations. The aim of the current study was to describe the characteristics of SCD patients and their impact on their quality of life (QoL).
METHODS:
Six hundred twenty-nine adult SCD patients who attended King Fahad Hospital in Hofuf and King Fahad Central Hospital in Jazan were included in the analysis. Demographic/clinical data were collected and an Arabic version of the Medical Outcomes 36-Item Short-Form Health Survey (SF-36) questionnaire was used to assess QoL.
RESULTS:
SCD patients who hold a university degree reported positive impacts on the following domains of SF-36: physical role function, vitality, emotional well being, social function, pain reduction, and general health (P = .002, P = .001, P = .001, P = .003, P = .004, and P = .001, respectively). In general, patients with fever, skin redness, swelling, or history of blood transfusion tended to impair the health status of the SF-36. A multivariate analysis revealed that patients with a university degree tended to report high scores of physical role functions, emotional role function, and vitality. Patients with regular exercise tend to increase vitality, social function, general health, and reduce pain. Unemployment tends to lessen vitality and worsen pain. On average, pain, social function, and physical function scores tended to worsen in patients with swelling or history of blood transfusion.
CONCLUSIONS:
This study highlighted that poor education, fever, skin redness, and swelling were negatively associated with specific components of SF-36. SCD patients with a history of blood transfusion found their QoL poorer, whereas regular exercise tended to improve QoL.
PMCID: PMC4647668 Free PMC Article
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PMID: 26573908 [PubMed - in process]
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Child Neuropsychol. 2015 Nov 15:1-18. [Epub ahead of print]
Abstract
The aim of this study was to examine the relationship between cognitive function in pediatric sickle cell disease (SCD) patients and mothers' reports of social-environmental stress, depressive symptoms, and parenting. A total of 65 children with SCD completed comprehensive neuropsychological testing to assess several domains of cognitive functioning, including general intellectual ability, academic achievement, and executive function. Mothers reported on demographics, social-environmental stress, depressive symptoms, and parenting. As predicted, children with SCD significantly underperformed relative to normative data on measures of cognitive function. Associations between maternal social-environmental stress, maternal depressive symptoms, and parenting were mixed. The results show partial support for the hypothesis that greater stress and depressive symptoms and less positive parenting are associated with poorer cognitive function in children with SCD. Linear regression analyses showed that maternal financial stress was the strongest predictor across all domains of cognitive function. The findings replicate and extend past research, reaffirming that children with SCD are at risk for cognitive impairment across multiple domains. Additionally, social-environmental stress, particularly financial strain, is linked to mothers' depressive symptoms and parenting behaviors as well as children's cognitive function. Future studies using direct observations of parenting behaviors are needed. These findings, along with recent research on parenting interventions, may inform the development of concrete, teachable parenting and coping skills to improve cognitive functioning in children with SCD.
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PMID: 26568287 [PubMed - as supplied by publisher]
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Am J Hematol. 2015 Nov 6. doi: 10.1002/ajh.24235. [Epub ahead of print]
Author information:
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Abstract
Over the past 40 years, public health measures such as universal newborn screening, penicillin prophylaxis, vaccinations and hydroxyurea therapy have led to an impressive decline in sickle cell disease (SCD)-related childhood mortality and SCD-related morbidity in high-income countries. We remain cautiously optimistic that the next 40 years will be focus on meeting the challenges in SCD today: to address chronic complications of SCD to reduce mortality and improve quality of life in a growing population of adults with SCD in high-income countries, while simultaneously decreasing the disparity of medical care between high and low-income countries. This article is protected by copyright. All rights reserved.
© 2015 Wiley Periodicals, Inc.
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PMID: 26547630 [PubMed - as supplied by publisher]
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Curr Opin Crit Care. 2015 Dec;21(6):569-75. doi: 10.1097/MCC.0000000000000258.
Author information:
Abstract
PURPOSE OF REVIEW:
The review focuses on severe acute vaso-occlusive manifestations of sickle cell disease leading adult patients to the ICU.
RECENT FINDINGS:
Careful consideration should be paid to look for pulmonary vascular dysfunction and acute kidney injury, because of their prognostic role during acute vaso-occlusive manifestations. Alloimmunization and delayed haemolytic transfusion reactions are emerging complications that should be thought to be diagnosed, as they may imply a conservative management. The life-threatening complication raises the question about the indications of blood transfusion therapy for acute sickle cell disease complications, no randomized controlled trials being available to assess the role of blood transfusion in the acute setting.
SUMMARY:
Acute vaso-occlusive episodes are characterized by an unpredictable course that needs for vigilance for everyone, and justifies ICU or intermediate care unit admission to allow close monitoring, and supportive treatment in a timely fashion.
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PMID: 26539931 [PubMed - in process]
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Int Wound J. 2015 Nov 4. doi: 10.1111/iwj.12522. [Epub ahead of print]
Abstract
Sickle cell leg ulcers (SCLUs) are a common complication of sickle cell disease (SCD). Patients who develop ulcers appear to have a more severe haemolysis-associated vasculopathy than individuals who do not develop them, and manifest other complications such as priapism and pulmonary hypertension. SCLUs are slow to heal and often recur, affecting both the emotional and physical well-being of patients. Here we summarise what is known about the pathophysiology of SCLUs, describe available treatment options and propose a treatment algorithm.
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PMID: 26537664 [PubMed - as supplied by publisher]
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Am J Hematol. 2015 Nov 4. doi: 10.1002/ajh.24232. [Epub ahead of print]
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Abstract
Sickle cell disease (SCD) is a common and life-threatening hematological disorder, affecting approximately 400,000 newborns annually worldwide. Most SCD births occur in low-resource countries, particularly in sub-Saharan Africa, where limited access to accurate diagnostics results in early mortality. We evaluated a prototype immunoassay as a novel, rapid, and low-cost point-of-care (POC) diagnostic device (Sickle SCANTM ) designed to identify HbA, HbS, and HbC. A total of 139 blood samples were scored by three masked observers and compared to results using capillary zone electrophoresis. The sensitivity (98.3-100%) and specificity (92.5-100%) to detect the presence of HbA, HbS, and HbS were excellent. The test demonstrated 98.4% sensitivity and 98.6% specificity for the diagnosis of HbSS disease and 100% sensitivity and specificity for the diagnosis of HbSC disease. Most variant hemoglobins, including samples with high concentrations of HbF, did not interfere with the ability to detect HbS or HbC. Additionally, HbS and HbC were accurately detected at concentrations as low as 1-2%. Dried blood spot samples yielded clear positive bands, without loss of sensitivity or specificity, and devices stored at 37C gave reliable results. These analyses indicate that the Sickle SCAN POC device is simple, rapid, and robust with high sensitivity and specificity for the detection of HbA, HbS, and HbC. The ability to obtain rapid and accurate results with both liquid blood and dried blood spots, including those with newborn high-HbF phenotypes, suggests that this POC device is suitable for large-scale screening and potentially for accurate diagnosis of SCD in limited resource settings. This article is protected by copyright. All rights reserved.
© 2015 Wiley Periodicals, Inc.
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PMID: 26537622 [PubMed - as supplied by publisher]
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Circulation. 2015 Nov 3. pii: CIR.0000000000000329. [Epub ahead of print]
Abman SH, Hansmann G, Archer SL, Ivy DD, Adatia I, Chung WK, Hanna BD, Rosenzweig EB, Raj JU, Cornfield D, Stenmark KR, Steinhorn R, Thébaud B, Fineman JR, Kuehne T, Feinstein JA, Friedberg MK, Earing M, Barst RJ, Keller RL, Kinsella JP, Mullen M, Deterding R, Kulik T, Mallory G, Humpl T, Wessel DL.
Abstract
Pulmonary hypertension is associated with diverse cardiac, pulmonary, and systemic diseases in neonates, infants, and older children and contributes to significant morbidity and mortality. However, current approaches to caring for pediatric patients with pulmonary hypertension have been limited by the lack of consensus guidelines from experts in the field. In a joint effort from the American Heart Association and American Thoracic Society, a panel of experienced clinicians and clinician-scientists was assembled to review the current literature and to make recommendations on the diagnosis, evaluation, and treatment of pediatric pulmonary hypertension. This publication presents the results of extensive literature reviews, discussions, and formal scoring of recommendations for the care of children with pulmonary hypertension.
© 2015 by the American Heart Association, Inc., and the American Thoracic Society.
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PMID: 26534956 [PubMed - as supplied by publisher]
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J Pediatr Nurs. 2015 Oct 31. pii: S0882-5963(15)00295-X. doi: 10.1016/j.pedn.2015.09.011. [Epub ahead of print]
Abstract
Patients and families affected by various medical conditions report experiencing health-related stigma, which contributes to detrimental physical, psychological, and social outcomes. Sickle cell disease (SCD) is a genetic disorder that affects 89,000 individuals in the United States and is often associated with negative stereotypes and incorrect assumptions. The present study explored the perception of stigma as reported by caregivers of adolescents with SCD.
DESIGN AND METHODS:
Focus groups were conducted with 20 caregivers of patients with SCD. Focus groups were audio recorded and transcribed. The data were coded independently by two authors, and then reviewed conjointly until consensus was reached.
RESULTS:
Caregivers reported the perception of stigma in academic, medical, community, and family settings. They also reported internalized stigma including negative feelings toward having a child with SCD, feeling upset with others, and seeing negative emotions in their child due to SCD. Caregivers reported a general lack of knowledge about SCD across settings.
CONCLUSION:
These results demonstrated that stigma may affect individuals with SCD across multiple settings. These results also highlighted areas for intervention, with a focus on increasing communication and education toward medical providers, schools, and communities.
PRACTICAL IMPLICATIONS:
Interventions can utilize technology, social media, and advertisement campaigns. Additionally, support groups for patients with SCD may help decrease stigma and validate patients' experiences.
Copyright © 2015 Elsevier Inc. All rights reserved.
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PMID: 26534838 [PubMed - as supplied by publisher]
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Circulation. 2015 Nov 2. pii: CIR.0000000000000250. [Epub ahead of print]
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PMID: 26527715 [PubMed - as supplied by publisher]
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Eur Heart J. 2015 Oct 29. pii: ehv555. [Epub ahead of print]
Abstract
AIMS:
Cardiac involvement is common in sickle cell disease (SCD). Studies are needed to establish haematological determinants of this involvement and prognostic markers. The aim of the study was to identify haematological factors associated with cardiac involvement in SCD and their impact on prognosis.
METHODS AND RESULTS:
This longitudinal observational study was performed on 1780 SCD patients with SS or S-β0-thalassemia referred to our centre. Six hundred fifty-six met our inclusion criteria (availability of a blood-workup and echocardiogram obtained <1 year apart, no heart valve surgery and no current pregnancy). Median age was 31 (interquartile range, 25-40) years, and median haemoglobin (Hb) was 87 (80-95)g/L. Left ventricular (LV) dilation, left atrial dilation, cardiac index (CI) >4 L/min/m2, LV ejection fraction <55%, and tricuspid regurgitant velocity (TRV) ≥2.5 m/s were found in 35, 78, 23, 8.5, and 17% of patients, respectively. Compared with other patients, those in the fourth quartiles (Q4) of LV end-diastolic dimension index (LVEDDind) and left atrial dimension index (LADind) and those with high CI had significantly lower Hb, % foetal Hb (HbF), and red blood cell (RBC) counts; and significantly higher lactate dehydrogenase, bilirubin, and %dense RBCs. Independent haematologic determinants of Q4 LVEDDind and LADind were low RBC count and %HbF; high %dense RBCs were associated with LADind. Low %HbF and RBC count were associated with high CI. High %dense RBCs or no α-thalassemia gene deletion was associated with greater severity of anaemia and cardiac dilation and with higher CI. During the median follow-up of 48 (32-59) months, 50 (7.6%) patients died. Tricuspid regurgitant velocity ≥ 2.5 m/s was a predictor of mortality. The risk of death increased four-fold when left ventricular ejection fraction <55% was present also (P = 0.0001).
CONCLUSION:
Cardiac dilation and CI elevation in patients with SCD are associated with haematologic variables reflecting haemolysis, RBC rigidity, and blood viscosity. Tricuspid regurgitant velocity ≥ 2.5 and LV dysfunction (even mild) predict mortality.
Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.
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PMID: 26516176 [PubMed - as supplied by publisher]
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Br J Haematol. 2015 Nov;171(4):638-46. doi: 10.1111/bjh.13641. Epub 2015 Sep 7.
Abstract
Recent epidemiologic data suggest that sickle cell trait (HbAS; AS) is a risk factor for venous thromboembolism. We conducted an exploratory study of healthy subjects with AS under baseline conditions to determine whether a chronic basal hyperactivation of coagulation exists, and if so, what mechanism(s) contribute to this state. Eighteen healthy AS individuals were compared to 22 African-American controls with a normal haemoglobin profile (HbAA; AA) and 17 patients with sickle cell disease (HbSS; SS). Plasma thrombin-antithrombin complexes and D-dimer levels were elevated in AS relative to AA patients (P = 0·0385 and P = 0·017, respectively), and as expected, were much higher in SSversusAA (P < 0·0001 for both). Thrombin generation in platelet poor plasma was indistinguishable between AA and AS subjects, whereas a paradoxical decrease in endogenous thrombin potential was observed in SS (P ≤ 0·0001). Whole blood tissue factor was elevated in SS compared to AA (P = 0·005), but did not differ between AA and AS. Plasma microparticle tissue factor activity was non-significantly elevated in AS (P = 0·051), but was clearly elevated in SS patients (P = 0·004) when compared to AA controls. Further studies in larger cohorts of subjects with sickle cell trait are needed to confirm the results of this preliminary investigation.
© 2015 John Wiley & Sons Ltd.
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PMID: 26511074 [PubMed - in process]
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