1737.1 – Newborn bloodspot screening for Sickle Cell Disease

Page last updated: 09 February 2024

Application Detail

Description of Medical Service

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.

Description of Medical Condition

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.

Reason for Application

Inclusion in NBS

Medical Service Type

Investigative technology

Previous Application Number/s


Associated Documentation

Newborn Bloodspot Screening Program Nomination Form

Nomination Form (PDF 339 KB)
Nomination Form (Word 40 KB)

Consultation Survey

PASC Consultation
Not applicable

MSAC Consultation
Not applicable

For further information please refer to PASC, ESC, MSAC Key Dates
For further information on the consultation process please refer to MSAC Consultation Process

PICO Confirmation

See application 1737

Assessment Report


Public Summary Document

Public Summary Document (PDF 802 KB)
Public Summary Document (Word 244 KB)

Meetings for this Application


Expedited – Bypassing PASC


Expedited – Bypassing ESC


23-24 November 2023