Evolution of sickle cell disease from a life‐threatening disease of children to a chronic disease of adults: The last 40 years

Chaturvedi, Shruti; DeBaun, Michael R.

doi:10.1002/ajh.24235

Cited by 146 publications

(154 citation statements)

References 137 publications

(125 reference statements)

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“…1, 2,[8][9][10] Allogeneic hematopoietic stem cell transplant (HSCT) is currently the only curative treatment of severe SCD, but access is limited for several reasons, including donor availability and sociocultural and economic barriers. SCD and transplant physicians alike debate the burden of morbidity from a chronic disease and mortality from the disease vs the curative option with transplantation and the risk for transplant-related complications and mortality.…”

Section: Introductionmentioning

confidence: 99%

Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation

Gluckman

Cappelli

Bernaudin

et al. 2017

Blood

390

359

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Key Points• HLA-identical sibling transplantation for SCD offers excellent long-term survival. • Mortality risk is higher for older patients; event-free survival has improved in patients transplanted after 2006.Despite advances in supportive therapy to prevent complications of sickle cell disease (SCD), access to care is not universal. Hematopoietic cell transplantation is, to date, the only curative therapy for SCD, but its application is limited by availability of a suitable HLA-matched donor and lack of awareness of the benefits of transplant. Included in this study are 1000 recipients of HLA-identical sibling transplants performed between 1986 and 2013 and reported to the European Society for Blood and Marrow Transplantation, Eurocord, and the Center for International Blood and Marrow Transplant Research. The primary endpoint was event-free survival, defined as being alive without graft failure; risk factors were studied using a Cox regression models. The median age at transplantation was 9 years, and the median follow-up was longer than 5 years. Most patients received a myeloablative conditioning regimen (n 5 873; 87%); the remainder received reduced-intensity conditioning regimens (n 5 125; 13%). Bone marrow was the predominant stem cell source (n 5 839; 84%); peripheral blood and cord blood progenitors were used in 73 (7%) and 88 (9%) patients, respectively. The 5-year event-free survival and overall survival were 91.4% (95% confidence interval, 89.6%-93.3%) and 92.9% (95% confidence interval, 91.1%-94.6%), respectively. Eventfree survival was lower with increasing age at transplantation (hazard ratio [HR], 1.09; P < .001) and higher for transplantations performed after

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Section: Introductionmentioning

confidence: 99%

Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation

Gluckman

Cappelli

Bernaudin

et al. 2017

Blood

390

359

View full text Add to dashboard Cite

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“…[33] A similar increasing trend of SCD in countries previously not affec ted by the disease has been observed in Ireland, [34] Italy, [35] Germany, [36] England [37] and France. [38] There fore, the evidence that the SCD burden is comparable to that of communicable diseases and other major global diseases such as hypertension and diabetes [2] will have increasing resonance.…”

Section: Discussionmentioning

confidence: 56%

Burden, genotype and phenotype profiles of adult patients with sickle cell disease in Cape Town, South Africa

et al. 2017

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Background. An exponential increase in the number of sickle cell disease (SCD) patients in paediatric services in Cape Town, South Africa, has been reported. The trend in adult/adolescent services has not been investigated. Objectives. To evaluate epidemiological trends of SCD and the profile of patients affected by SCD attending the Haematology Clinic at Groote Schuur Hospital (GSH), Cape Town. Methods. (i)A retrospective review of the number of SCD patients over the past 20 years; (ii) a cross-sectional analysis of clinical and haematological characteristics of SCD patients; and (iii) molecular analysis of the haemoglobin S mutation, the haplotype in the β-globinlike genes cluster, the 3.7 kb α-thalassaemia gene deletion and 19 selected single-nucleotide polymorphisms (SNPs) associated with fetal haemoglobin (HbF) levels. Results. From 1995 to 2016, 81 adolescent/adult patients with SCD were registered, mostly originating from other African countries (n=61, 75.3%). There was an increase of over 200% in new cases (n=47) during the last quarter of the two decades investigated. Data from 34 of 58 regular attendees (58.6%) were analysed. The mean age of the patients was 26.1 years (standard deviation (SD) 9.8), and 70.6% were male. With the exception of four patients with sickle/β-thalassaemia, all the patients had SCD (haemoglobin SS). The co-inheritance of a single 3.7 kb α-globin deletion was found in 42.3% of cases (n=11). The Bantu haplotype was the most observed (65.4% of chromosomes). Most HbF-promoting SNPs were not associated with variable levels of haematological indices. Conclusions.There is an increasing burden of adult SCD patients at GSH. National health and academic institutions need to adapt policies and healthcare professional training accordingly. S Afr Med RESEARCH Methods Ethical approvalThe study was performed in accordance with the Declaration of Helsinki and with the approval of the Faculty of Health Sciences Human Research Ethics Committee, University of Cape Town (HREC ref. no. 132/2010). Informed and written consent was obtained from adult participants (≥18 years), and for one patient aged 15 years informed consent was obtained from the guardian with assent from the participant. PatientsThe Haematology Clinic runs weekly every Wednesday. Most patients are seen at least once a month, and clinically stable patients every 3 months, with the exception of crisis-related hospitalisation.A retrospective review of the number of SCD patients attending the clinic over the past 20 years and a cross-sectional analysis of patients who regularly attend the clinic were performed. Clinical events and haematological indices were retrospectively collected from hospital records. The haematological measures were those reported at the first visit to the hospital. Molecular methods DNA extractionDNA was isolated from the peripheral blood using the AllPrep DNA/RNA/miRNA universal kit (Qiagen, USA) according to the manufacturer's instructions. GenotypingHbS mutation and β-globin haplotypes Polymerase chain reac...

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“…31 Similarly, elevated N-terminal probrain natriuretic peptide (NT-ProBNP), which predicts pulmonary hypertension, has been identified as an independent predictor of death in SCD patients. 29 Adults with SCD have a higher incidence of stroke compared to adults without SCD. It is one of the main causes of mortality in these patients.…”

Section: Preoperative Evaluation Of the Sickle Cell Disease Patientmentioning

confidence: 99%

“…Measures such as universal newborn screening, evaluating the percentage of HbS in the patients, vaccination against Streptococcus pneumoniae and Hemophilus influenzae type b, and the use of routine transcranial Doppler have mitigated morbidity and mortality in SCD. 29 Cardiac comorbidities in these patients include pulmonary hypertension and cor pulmonale, as well as myocardial ischemia. A third of these patients present with elevated tricuspid regurgitant jet velocities on echocardiography.…”

Section: Preoperative Evaluation Of the Sickle Cell Disease Patientmentioning

confidence: 99%

Case 10—2016

Farooqui

Chaney

Staikou

et al. 2016

Journal of Cardiothoracic and Vascular Anesthesia

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Evolution of sickle cell disease from a life‐threatening disease of children to a chronic disease of adults: The last 40 years

Cited by 146 publications

References 137 publications

Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation

Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation

Burden, genotype and phenotype profiles of adult patients with sickle cell disease in Cape Town, South Africa

Case 10—2016

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