The Sickle cell gene can be detected by a simple blood test called hemoglobin electrophoresis.
The test can be performed during the first 10 weeks of a pregnancy or as part of routine newborn screening. Older children and adults can also be screened.
In adults, a blood sample is drawn from a vein in the arm. In young children and babies, the blood sample is usually collected from a finger or heel prick. The sample is then sent to a laboratory, where it’s screened for Haemoglobin S.
If the screening test is negative, there is no sickle cell gene present. If the screening test is positive, more tests will be done to determine whether one or two sickle cell genes are present.
Further testing
If you or your child has Sickle Cell Anaemia, a blood test to check for a low red blood cell count (anaemia) will be done. Your doctor might suggest additional tests to check for possible complications of the disease.
If you or your child carries the sickle cell gene, you will be referred to a genetic counsellor.
Tests to detect sickle cell genes before birth
The Sickle Cell Disease can be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother’s womb (amniotic fluid) to look for the sickle cell gene. If you or your partner has been diagnosed with Sickle Cell Anaemia or the sickle cell trait, ask your doctor about whether you should consider this screening. Ask for a referral to a genetic counsellor who can help you understand the risk to your baby.
Australian Sickle Cell Advocacy Inc (ASCA) is a patient advocacy group supporting the rights of people living with Sickle Cell Disease (SCD) as they navigate the healthcare system in Australia. ASCA is a non-profit organisation started in 2014 and officially registered in October 2018. An advocacy group formed to fill the gap of highlighting the rising numbers of sickle cell disease in Australia. Although rare in some part of the world like Australia, sickle cell disease is affecting a lot of people.