1737.1 – Newborn bloodspot screening for Sickle Cell Disease

Inclusion in NBS

Newborn bloodspot screening (NBS) aims to identify babies at risk of developing certain rare conditions and metabolic disorders where early intervention can improve health outcomes. More information is available on the Department of Health webpage for the newborn bloodspot screening program.

Sickle Cell Disease is an inherited blood disorder caused by gene mutation. Screening for this condition can be performed by methods such as mass spectrometry, High-Performance Liquid Chromatography (HPLC) / Isoelectric Focusing (IEF) or other combination of biochemical detection techniques such as Capillary Electrophoresis(CE)/HPLC or IEF/HPLC as first and/or second line testing followed by molecular (genetic) confirmation testing.

Methods used for newborn bloodspot screening for Sickle Cell Disease can also detect other haemoglobinopathies such as beta-thalassemia as non-target conditions.

Type: Investigative technology

Sickle Cell Disease is an inherited, autosomal recessive blood disorder caused by a defect in a gene that causes red blood cells to become sickle/crescent shaped. SCD is a multisystem disease associated with episodes of acute illness and progressive organ damage.

Complications of a SCD diagnosis include frequent hospitalisation for treatment, which is burdensome for health care systems. Sickle cell anaemia, the most common form of SCD, is characterised by chronic anaemia, bone and chest pain, organ damage, failure to thrive, repeated infections and painful swelling of the hands and feet.

Asthma, acute chest syndrome and infections (Invasive pneumococcal disease) and parasitic disease are the most prevalent co-morbidities.

• PASC consultation: Not applicable 
• MSAC consultation: Not applicable

• PASC meeting: Expedited – bypassing PASC
• ESC meeting: Expedited – bypassing ESC
• MSAC meeting: 23–24 November 2023