Antenatal screening for haemoglobinopathies: current status, barriers and ethics.

Sickle cell disease (SCD) and thalassaemia are genetic disorders that are caused by errors in the genes for haemoglobin and are some of the most common significant genetic disorders in the world, resulting in significant morbidity and mortality. Great disparities exist in the outcome of these conditions between resource- rich and resource-poor nations. Antenatal screening for these disorders aims to provide couples with information about their reproductive risk and enable them to make informed reproductive choices; ultimately reducing the likelihood of children being born with these conditions.

Risk of Invasive Pneumococcal Disease in Children with Sickle Cell Disease in England: A National Observational Cohort Study, 2010-2015.

Objective: To describe the clinical presentation, risk factors, serotype distribution and outcomes of invasive pneumococcal disease (IPD) in children with sickle cell disease (SCD) following the introduction of the 13-valent pneumococcal conjugate vaccine (PCV13) in the UK.

Design: Prospective national newborn screening for SCD and enhanced national IPD surveillance.

Participants: Children with SCD born in England between 1 September 2010 and 31 August 2014 who developed laboratory-confirmed IPD by 31 December 2015.

Evaluation of newborn sickle cell screening programme in England: 2010-2016.

Objective: To evaluate England's NHS newborn sickle cell screening programme performance in children up to the age of 5 years.

Design: Cohort of resident infants with sickle cell disease (SCD) born between 1 September 2010 and 31 August 2015 and followed until August 2016.

Participants: 1317 infants with SCD were notified to the study from all centres in England and 1313 (99%) were followed up.

Longitudinal assessment of lung function in children with sickle cell disease.

Objectives: To prospectively assess longitudinal lung function in children with sickle cell disease (SCD).

Working Hypothesis: Lung function in SCD children deteriorates with increasing age and the decline is more marked in younger children who have recently suffered ACS episodes.

Study Design: Two prospective longitudinal studies.

Airway and alveolar nitric oxide production, lung function, and pulmonary blood flow in sickle cell disease.

Background: Children with sickle cell disease (SCD) often have obstructive lung function abnormalities which could be due to asthma or increased pulmonary blood volume; it is important to determine the underlying mechanism to direct appropriate treatment. In asthmatics, exhaled nitric oxide (FeNO) is elevated. FeNO, however, can also be raised due to increased alveolar production.

Airways obstruction and pulmonary capillary blood volume in children with sickle cell disease.

Objectives And Working Hypothesis: Airways obstruction occurs in young children with sickle cell disease (SCD). Our aim was to test the hypothesis that increased pulmonary capillary blood volume at least in part explained the increased airways obstruction as this would inform which therapy might be most appropriate to treat the airway obstruction.

Study Design: Observational study.

Changing pattern of hospital admissions of children with sickle cell disease over the last 50 years.

A study published in 1981 examined the causes of hospital admission for a cohort of children with sickle cell disease (SCD). Since that time, the incidence and prevalence of SCD has increased markedly in the UK, and there have been many changes in the management of this disease. We undertook a study examining the causes of hospital admission of children with SCD to the same hospital as the previous study, over the 2-year period from 2008 to 2009.

Soluble CD163 levels in children with sickle cell disease.

Sickle cell disease (SCD) is characterized by vasculopathy, which has been causally linked to intravascular haemolysis and high levels of free plasma haemoglobin. Soluble CD163 (sCD163) is implicated in the clearance of free plasma haemoglobin and high plasma concentrations have been linked to arterial disease. We therefore investigated the value of sCD163 as a biomarker in children with SCD, and also measured haptoglobin levels in this population.

Portacaths are safe for long-term regular blood transfusion in children with sickle cell anaemia.

Peripheral venous access in children with sickle cell anaemia (SCA) requiring regular blood transfusions can become difficult over time. Previous reports have suggested the use of totally implantable venous access devices, Portacaths (PAC) in this patient group are associated with unacceptable high rates of complications. We present our experience in seven children with SCA over a 9-year period.

Outcome of children with sickle cell disease admitted to intensive care - a single institution experience.

We retrospectively audited children with sickle cell disease (SCD) admitted to paediatric intensive care (PICU) at King's College Hospital between January 2000 and December 2008. Forty-six children with SCD were admitted, on 49 separate occasions. Ages ranged from 4 months to 15 years (median 7.

Auto-adjusting positive airway pressure in children with sickle cell anemia: results of a phase I randomized controlled trial.

Low nocturnal oxygen saturation (SpO(2)) is implicated in complications of Sickle Cell Anemia (SCA). Twenty-four children with SCA were randomized to receive overnight auto-adjusting continuous positive airway pressure (auto-CPAP) with supplemental oxygen, if required, to maintain SpO(2) >or=94% or as controls. We assessed adherence, safety, sleep parameters, cognition and pain.

Stroke prevention in the young child with sickle cell anaemia.

Cerebrovascular disease resulting in stroke is a serious and preventable complication of sickle cell anaemia (SCA). Children at high risk of preventable stroke can be identified by transcranial Doppler ultrasound (TCD). Current guidelines in the UK recommend annual TCD screening from 3 years, although studies suggest an earlier peak incidence, between 2 and 5 years.

The effects of air quality on haematological and clinical parameters in children with sickle cell anaemia.

Sickle cell anaemia (SCA; HbSS) is characterised by its clinical variability, which is only partly explained by known genetic factors. Environmental factors are known to contribute to acute problems but their importance in chronic complications has not been analysed. We have studied 93 children with SCA in a single institution, who underwent transcranial Doppler scanning and steady-state blood tests in 2006.

A simple index using age, hemoglobin, and aspartate transaminase predicts increased intracerebral blood velocity as measured by transcranial Doppler scanning in children with sickle cell anemia.

Objective: Increased intracerebral blood velocity measured by transcranial Doppler scanning identifies children with sickle cell anemia who are at increased risk of stroke. We have tried to develop an index based on routine clinical measurements that also predicts increased intracerebral blood flow.

Method: Routinely collected clinical and laboratory data were correlated with transcranial Doppler measurements on children with sickle cell anemia seen in a single institution in 2006.

Serum lactate dehydrogenase activity as a biomarker in children with sickle cell disease.

Serum lactate dehydrogenase (LDH) levels were studied in children with HbSS and HbSC in a single institution, and their relationship to cerebral vasculopathy as assessed by transcranial Doppler scanning (TCD). All children with HbSS (n = 97) and HbSC (n = 18) who underwent a TCD scan in 2006 were studied. LDH levels were higher in HbSS patients than HbSC (581 IU/l vs.

Transcranial Doppler scanning and the assessment of stroke risk in children with HbSC [corrected] disease.

Objective: To assess the role of transcranial Doppler (TCD) scanning in assessing the risk of stroke in children with haemoglobin SC (HbSC) disease. TCD scanning has an established role in primary stroke prevention in sickle cell anaemia but its value in HbSC is unknown.

Design: A retrospective audit of routinely performed TCD scans and routinely collected clinical data.

The associations between air quality and the number of hospital admissions for acute pain and sickle-cell disease in an urban environment.

The clinical severity of sickle-cell disease (SCD) is dependent on genetic and environmental variables. Environmental factors have been poorly studied. We have investigated possible links between air pollution and acute pain in SCD.

Windy weather and low humidity are associated with an increased number of hospital admissions for acute pain and sickle cell disease in an urban environment with a maritime temperate climate.

Sickle cell disease (SCD) is characterised by intermittent episodes of acute severe pain, related to vaso-occlusion. Environmental factors are thought to play an important role, and studies in tropical countries have suggested that cold and rainy seasons are associated with increased episodes of acute pain. We have studied retrospectively the number of admissions with acute pain and SCD to King's College Hospital, London, together with daily meteorological records collected locally.

Ischaemic cholangiopathy and sickle cell disease.

We report a case of a 6-year-old girl of Afro-Caribbean origin, known to have sickle cell disease (SCD), with recurrent history of jaundice and abdominal pain. She was extensively investigated, including endoscopic retrograde cholangiopancreatography (ERCP), which revealed diffuse cholangiopathy of both extrahepatic and intrahepatic bile ducts. A pigtail stent was placed and balloon dilatation was performed for stricture of the extrahepatic duct.

The measurement of urinary hydroxyurea in sickle cell anaemia.

Hydroxyurea is increasingly used in the treatment of sickle cell disease (SCD) although there is little evidence on how best to monitor treatment and compliance. It is also not known why 10-50% patients do not benefit from the drug and whether some of this resistance is because of pharmacokinetic factors. We have developed an assay using mass spectrometry (MS) to measure urinary concentrations of hydroxyurea.

Psychosocial and Neurocognitive Aspects of Sickle Cell Disease.

Sickle cell disease (SCD) comprises a group of recessively inherited blood disorders and is the most common genetic disorder in the world (Embury et al., 1994). It is a chronic condition of variable severity that mainly affects people of African and African-Caribbean heritage.

The comprehensiveness care of sickle cell disease.

Millions of people across the world have sickle cell disease (SCD). Although the true prevalence of SCD in Europe is not certain, London (UK) alone had an estimated 9000 people with the disorder in 1997. People affected by SCD are best managed by a multidisciplinary team of professionals who deliver comprehensive care: a model of healthcare based on interaction of medical and non-medical services with the affected persons.