• newborn screening
• sickle cell disease

The importance of newborn screening for sickle haemoglobinopathies is now recognised, and its use has been expanding worldwide in recent years. This crucial blood test, often administered shortly after birth, can accurately diagnose sickle cell disease, allowing early interventions. As more countries adopt sickle cell screening programmes, it becomes essential to have periodic data assessments to determine overall effectiveness and identify areas for improvement. In this context, two timely reviews of the nationwide England programme have now been conducted.

With the possible exception of childhood immunisations, newborn screening can be considered one of the most successful public health programmes ever developed for improving child health. Newborn screening provides the means for early detection of congenital diseases, typically through laboratory testing of blood collected soon after birth. Abnormal screening results should always be confirmed, and then followed by prompt intervention and early disease management, with the specific goal of preventing clinical complications, irreversible organ damage or death.

Over 50 years have passed since Dr Robert Guthrie discovered that dried blood spots could be used to detect phenylketonuria, an inherited metabolic disorder that leads to early mental retardation unless phenylalanine is excluded from the infant’s diet. Soon after his eponymous technique was published, Guthrie recognised that dried blood spots could be used to identify other disorders, writing presciently, ‘Using the phenylketonuria specimens to test also for haemoglobinopathies would therefore avoid the need for collecting specimens usually involved in initiating any large-scale screening programme’.1 At last count, newborn screening panels encompass over 50 genetic disorders, but sickle …