Victoria has become the first Australian jurisdiction to include sickle cell disease in its newborn health screening program. This expansion brings the total number of rare but serious conditions covered by the state’s routine testing to 35. The screening process is conducted via a blood sample typically taken from a baby’s heel between 36 and 72 hours after birth.
Sickle cell disease is a genetic blood disorder that alters the structure of haemoglobin, the protein responsible for transporting oxygen throughout the body. In individuals with this condition, red blood cells can become rigid and shaped like a crescent or sickle.
These abnormally shaped cells have difficulty moving through small blood vessels and can cause blockages that restrict blood flow.
When the condition is left undiagnosed and untreated, it can result in significant medical issues.
These complications include bouts of intense pain known as sickle cell crises, chronic anaemia, an increased vulnerability to severe infections, and a higher risk of stroke. Over time, the lack of consistent oxygen delivery can also lead to permanent damage to vital organs.
The decision to add this specific disorder to the screening panel follows data indicating that while the disease currently affects a relatively small portion of the Australian population, its prevalence has been steadily increasing. By identifying the condition in the first days of life, medical professionals can begin management strategies immediately.
Treatment primarily focuses on the management of symptoms and the prevention of the more debilitating aspects of the disease, which generally leads to a higher quality of life for the child.
Victoria’s newborn bloodspot screening program has a long history, having first launched in 1966. In the decades since its inception, the program has screened more than 3.6 million infants.
Statistical records show that approximately one in every 1000 babies screened is found to have one of the rare conditions included in the test. In the 2025 calendar year, the program reached more than 74,000 Victorian newborns.
The inclusion of sickle cell disease follows other recent additions to the testing panel.
Other conditions recently integrated into the routine screening include spinal muscular atrophy, which affects muscle strength and movement; severe combined immunodeficiency, which impacts the immune system’s ability to fight infection; and congenital adrenal hyperplasia, a group of genetic disorders affecting the adrenal glands.
