Sickle cell anemia is characterized by the production of abnormal hemoglobin, which affects red blood cells and inhibits the transport of oxygen around the body, leading to severe anemia.
Normal red blood cells have a disc shape that makes them flexible and allows them to easily travel through the blood vessels to deliver oxygen. People with sickle cell disease produce an abnormal sticky hemoglobin that forms stiff rods, giving red blood cells the characteristic crescent or sickle shape.
Take this test to find out if you are a genetic carrier of sickle cell anemia and are at risk of passing the HbS variant to your children. Additional testing for other variants linked to sickle cell disease is also available.
Sickle cell anemia is caused by the HbS variant in the HBB gene. This gene provides instructions for the β-globin part of hemoglobin. The HbS variant results in a sticky hemoglobin, leading to rods forming, and changing the shape of the red blood cells.
Sickle cell anemia is an autosomal recessive disorder, meaning that generally an individual must inherit two copies of the HbS variant for symptoms to occur. People who inherit just one copy are usually unaffected, and are known as carriers of sickle cell anemia (or have the sickle cell trait).
Occasionally carriers may experience muscle pain or other health issues under certain conditions, such as intense exercise, overheating, and exercising at a high altitude.
This test detects the HbS variant in the HBB gene which causes sickle cell anemia. The HbS variant is more common in areas of high malaria incidence, particularly in West Africa (1 in 4 people carry an HbS variant) and those of Afro-Caribbean descent (1 in 10).
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
- Sickle-shaped red blood cells
- Hand-foot syndrome (swelling of hands and feet due to reduced circulation)
- Anemia causing fatigue, weakness, delayed growth, and jaundice
- Vaso-occlusive episodes and pain crises
- Vision problems
- Frequent infections due to damage in the spleen
- High blood pressure in the blood vessels that supply the lungs (which can lead to heart failure)
- Gallstones from the increased breakdown of red
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.