Sickle Cell Disease in Australia: Understanding Diagnosis, Symptoms, and Management

Sickle Cell Disease (SCD) is a genetic blood disorder characterised by abnormally shaped red blood cells, leading to various health complications. In Australia, SCD is relatively rare but poses significant challenges for affected individuals and their families.

Diagnosis and Affected Populations

SCD is typically diagnosed through blood tests that identify the presence of sickle-shaped red blood cells or defective hemoglobin. Newborn screening programs can detect SCD early, allowing for prompt management. The disease predominantly affects individuals of African, Middle Eastern, Southern European, Indian, Pakistani, South American, and Caribbean descent. In Australia, the increasing diversity due to migration has led to a rise in SCD cases among these communities.

Symptoms

Common symptoms of SCD include:

• Chronic anemia

• Episodes of pain, known as sickle cell crises

• Fatigue

• Frequent infections

• Delayed growth in children

• Jaundice

These symptoms result from the obstruction of blood flow caused by the sickle-shaped cells, leading to tissue and organ damage.

Treatment and Management

Management of SCD focuses on alleviating symptoms and preventing complications. Treatment options include:

• Medications: Hydroxyurea is commonly prescribed to reduce the frequency of pain episodes and the need for blood transfusions.

• Blood Transfusions: Regular transfusions can manage severe anemia and reduce the risk of stroke.

• Pain Management: Utilising analgesics and other pain-relief strategies during crises.

• Preventative Measures: Vaccinations and antibiotics to prevent infections, along with folic acid supplements to support red blood cell production.

In some cases, a bone marrow or stem cell transplant may offer a potential cure, but this procedure carries significant risks and is not suitable for all patients.