Sickle cell disease affects millions worldwide, yet isn’t talked about often enough. This inherited haemoglobin/red blood cell disorder can be caught early and managed better with a little more awareness of the condition.

What Is Sickle Cell Disease?

Sickle Cell disease affects the haemoglobin in the red blood cells of the body, causing the cells to appear C or sickle-shaped. These red blood cells are sticky and hard. They struggle to pass through narrow blood vessels causing blood flow to be affected. People with the condition also experience a constant shortfall since these cells die early (in 10 to 20 days, compared to 90 to 120 days of normal cells). As a result, there are a host of issues that you may need to learn to cope with.

Living With Sickle Cell Disease: The Challenges

Sickle cell disease if left undiagnosed or untreated could cause complications you’re best off avoiding. Thankfully, treatments exist that can reduce the risk of more severe complications and/or ease symptoms when they do occur. Bone marrow and blood transplants are the only cures for this condition. However, medicines can help manage pain and lower the risk of infections, among other things.

Sickle cell disease is more common in certain populations, including individuals of Indian, Middle Eastern, African, Asian, Mediterranean, and Hispanic ancestry. In these groups, or when there is a family history of the condition, carrier screening and genetic testing can help assess the risk of inheriting or passing on the disease. Prenatal testing can also be performed using placental tissue or amniotic fluid samples. Young children may be tested for early diagnosis, while adults can undergo a simple blood test to determine whether they carry the sickle cell trait or an abnormal haemoglobin gene.

Genetic Testing for Sickle Cell

Sickle cell disease runs in families and is an inherited trait. This makes genetic testing a vital piece of the puzzle.

MedGenome offers simple hassle-free testing for sickle cell disease. The Sickle cell anemia (HBB) gene analysis (exon 1) – and the HPLC- Sickle Cell Anemia test(to check the type of haemoglobin present in your blood) can tell you whether you are at risk of passing on the condition to your future children and if you have sickle cell disease yourself. Optional genetic counselling can be invaluable in charting those next steps before you work out the best way forward in consultation with your doctor.

As with many genetic conditions, early awareness can make a significant difference. Whether you are considering carrier screening before starting a family or newborn screening after your baby is born, timely testing can provide valuable information to support informed healthcare decisions.