A5009513049- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Prenatal Screening and Diagnostics
- Blood groups and transfusion
- Folate and B Vitamins Research
- Bone and Joint Diseases
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Pharmacological Effects and Toxicity Studies
- Hematological disorders and diagnostics
- Autopsy Techniques and Outcomes
- Acute Ischemic Stroke Management
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Child Nutrition and Water Access
- Abdominal Trauma and Injuries
- Parvovirus B19 Infection Studies
- Obstructive Sleep Apnea Research
- Adolescent and Pediatric Healthcare
- Erythrocyte Function and Pathophysiology
- Food Security and Health in Diverse Populations
- Tuberculosis Research and Epidemiology
- Fetal and Pediatric Neurological Disorders
- Neuroscience of respiration and sleep
- Childhood Cancer Survivors' Quality of Life
- Tracheal and airway disorders
- Epigenetics and DNA Methylation
Guy's and St Thomas' NHS Foundation Trust
2015-2024
Evelina London Children's Healthcare
2015-2024
St Thomas' Hospital
2014-2024
King's College London
2015-2024
National Health Service
2010-2022
St. Thomas Hospital
2014-2022
Imperial College Healthcare NHS Trust
2018-2022
Great Ormond Street Hospital
2018
University Hospital Southampton NHS Foundation Trust
2018
University of Southampton
2018
Silent cerebral infarcts are the most common neurologic injury in children with sickle cell anemia and associated recurrence of an infarct (stroke or silent infarct). We tested hypothesis that incidence would be lower among who underwent regular blood-transfusion therapy than those received standard care.In this randomized, single-blind clinical trial, we randomly assigned to receive blood transfusions (transfusion group) care (observation group). Participants were between 5 15 years age, no...
To ascertain the prevalence of and risk factors for obstructive sleep apnea syndrome (OSAS) in children with sickle cell anemia (SCA).Cross-sectional baseline data were analyzed from Sleep Asthma Cohort Study, a multicenter prospective study designed to evaluate contribution breathing abnormalities SCA-related morbidity ages 4 18 years, unselected OSAS symptoms or asthma. Multivariable logistic regression assessed relationships between status on basis overnight in-laboratory polysomnography...
Sickle cell anemia is an inherited blood disorder that characterized by painful vaso-occlusive crises, for which there are few treatment options. Platelets mediate intercellular adhesion and thrombosis during vaso-occlusion in sickle anemia, suggests a role antiplatelet agents modifying disease events.Children adolescents 2 through 17 years of age with were randomly assigned to receive oral prasugrel or placebo 9 24 months. The primary end point was the rate crisis, composite crisis acute...
Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures has contributed a reduction in childhood mortality from SCD. Policies methodologies NBS vary different countries, this might have consequences the quality clinical outcomes across Europe. A two-day Pan-European consensus conference was held Berlin April 2017 order appraise current status...
Abstract Sickle cell disease (SCD) is a genetic disorder, characterized by hemolytic anemia and vaso‐occlusive crises (VOCs). Data on the global SCD impact quality of life (QoL) from patient viewpoint are limited. The international Cell World Assessment Survey (SWAY) aimed to provide insights into patient‐reported QoL. This cross‐sectional survey patients enrolled healthcare professionals advocacy groups assessed daily life, education work, symptoms, treatment goals, management. Opinions...
Children with sickle cell anemia have a higher-than-expected prevalence of poor educational attainment. We test two key hypotheses about attainment among students anemia, as measured by grade retention and use special education services: (1) lower household per capita income is associated attainment; (2) the presence silent cerebral infarct conducted multicenter, cross-sectional study cases from 22 U.S. sites included in Silent Infarct Transfusion Trial. During screening, parents completed...
Summary To date, there is a lack of long‐term safety and efficacy data for iron chelation therapy in transfusion‐dependent patients with sickle cell disease (SCD). evaluate the deferasirox (a once‐daily oral chelator), SCD completing 1‐year, Phase II, randomized, deferoxamine (DFO)‐controlled study entered 4‐year extension, continuing to receive deferasirox, or switching from DFO deferasirox. Average actual dose was 19·4 ± 6·3 mg/kg per d. Of 185 who received at least one dose, 33·5%...
The purpose of this retrospective cross-sectional study was to investigate whether changes in white matter integrity are related slower processing speed sickle cell anemia.Thirty-seven patients with silent cerebral infarction, 46 normal MRI, and 32 sibling controls (age range 8-37 years) underwent cognitive assessment using the Wechsler scales 3-tesla MRI. Tract-based spatial statistics analyses diffusion tensor imaging (DTI) neurite orientation dispersion density (NODDI) parameters were...
Sickle Cell Disease (SCD) is now one of the most common serious genetic condition in England. There no reliable estimate total number people living with SCD UK, to support commissioners and providers services for SCD.To obtain data on UK 2016.Information was requested from all national databases known hold information UK. The each source first reviewed likely inaccuracies then combined provide a best UK.This process indicated there are about 14000 This equivalent 1 4600 people.
Abstract Background Sickle cell disease (SCD) is a devastating, multisystemic disorder that affects millions of people worldwide. The earliest clinical manifestations SCD can affect infants as young 6 months age, and pediatric patients are at risk for acute life‐threatening complications. Early intervention with treatments target the underlying pathophysiological mechanism SCD, sickle hemoglobin (HbS) polymerization, expected to slow progression circumvent disease‐associated morbidity...
Abstract Previous research has identified cognitive impairment in children with sickle cell anemia (SCA, Hemoglobin SS) compared controls, partly accounted for by overt neuropathology after clinical stroke, “covert” (“silent”) infarction, and severity of anemia. However, deficits have also been SCA no history stroke a normal T2-weighted magnetic resonance imaging (MRI) scan. Our aim was to investigate whether nocturnal hemoglobin oxygen desaturation sleep fragmentation could be associated...
The completion of the Multicenter Silent Infarct Transfusion Trial demonstrated that children with pre-existing silent cerebral infarct and sickle cell anemia (SCA) who received regular blood transfusion therapy had a 58% relative risk reduction recurrence when compared to observation. However, total benefit therapy, as assessed by parents, was not measured against burden monthly therapy. In this planned ancillary study, we tested hypothesis patient centered outcome, health-related quality...
While a doctor-diagnosis of asthma is associated with an increased risk pain and acute chest syndrome (ACS) in children sickle cell anemia (SCA), little known about the relationship between specific characteristics clinical factors future morbidity SCA. We evaluated (i) at time visit (respiratory symptoms, maternal history asthma, allergy skin tests, spirometry results) (ii) factor ACS early life, on prospective episodes cohort 159 SCA followed from birth to median 14.7 years. An episode...
Summary With the developing COVID‐19 pandemic, patients with inherited anaemias require specific advice regarding isolation and changes to usual treatment schedules. The National Haemoglobinopathy Panel (NHP) has issued guidance on care of sickle cell disease, thalassaemia, Diamond Blackfan anaemia (DBA), congenital dyserythropoietic (CDA), sideroblastic anaemia, pyruvate kinase deficiency other red enzyme membrane disorders. Cascading accurate information for clinicians is paramount...
Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patientsFaced with the rapidly evolving pandemic, March 2020 UK Government advocated strict self-isolation ('shielding') to protect extremely vulnerable patient groups deemed at high risk severe SARS-CoV-2 infection. 1These included children adults sickle cell (HbSS).On advice National Hemoglobinopathy Panel (NHP), a multidisciplinary expert advisory group, shielding guidance was extended all disease (SCD)...
Abstract Many people with sickle cell disease (SCD) or other anemias require chronic blood transfusions, which often causes iron overload that requires chelation therapy. The chelator deferiprone is frequently used in individuals thalassemia syndromes, but data patients SCD are limited. This open-label study assessed the efficacy and safety of receiving transfusion A total 228 (mean age: 16.9 [range, 3-59] years; 46.9% female) were randomized to receive either oral (n = 152) subcutaneous...
Sickle cell disease (SCD) is a common condition within sub-Saharan Africa and associated with high under-5 mortality (U5M). The American Society of Hematology instituted the Consortium on Newborn Screening in (CONSA) for SCD, 7-country network sites to implement standardized newborn hemoglobinopathy screening early intervention children SCD Africa. CONSA's overall hypothesis that infant entry into standardized, continuous care will reduce U5M compared historical estimates region. Primary...
The clinical severity of sickle cell disease (SCD) is strongly influenced by the level fetal haemoglobin (HbF) persistent in each patient. Three major HbF loci (BCL11A, HBS1L-MYB, and Xmn1-HBG2) have been reported, but a considerable hidden heritability remains. We conducted genome-wide association study for levels 1006 Nigerian patients with SCD (HbSS/HbSβ0), followed replication meta-analysis exercise four independent cohorts (3,582 patients). To dissect signals at loci, we performed...