Medical Forum
Newborn bloodspot screening program expanded
Sickle cell disease has been added to Western Australia’s newborn bloodspot screening program.
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Medical Forum
The group of inherited blood disorders that affect the shape and function of red blood cells is the first of three new conditions to be included in the free program.
About 30,000 WA newborns are screened through the program each year via a routine heel-prick bloodspot test offered to newborns.
Early detection enables timely treatment and improves lifelong health outcomes
Health Minister Meredith Hammat said adding sickle cell disease to the state’s screening program meant affected babies could receive specialist care and treatment as early as possible.
“Giving them the best chance of avoiding serious complications and living healthier lives,” she said.
In people who have sickle cell disease, abnormal cells can block blood flow, causing severe pain and serious complications including stroke, infection, heart disease and lung disease.
The addition of sickle cell disease to WA’s program follows endorsement of a new nationally co-ordinated approach, with all Australian Health Ministers agreeing to include it in newborn screening programs.
The state government anticipates further expanding the program in coming months with the addition of X-linked adrenoleukodystrophy (X-ALD) and Biotinidase deficiency (BTD) to the routine screening.
X-ALD is a genetic disorder that can affect the brain, spinal cord, and adrenal gland, with early detection ensuring treatment can begin at a young age before irreversible neurological damage occurs.
BTD is a rare metabolic disorder that can cause a functional vitamin deficiency, and if left untreated leads to neurological issues such as seizures and developmental delay.