23andMe Updates Carrier Status Report on Sickle Cell Anemia

23andMe updated its Carrier Status report on sickle cell anemia, an inherited red blood cell disease caused by the HbS variant in the HBB gene.

With this update, 23andMe’s Sickle Cell Anemia Carrier Status report can now tell customers if they have two copies of the HbS variant, including what that may mean for their own health and the health of their children. Specifically, the report will inform these customers that they are at risk of developing symptoms of sickle cell anemia, and that they will pass one copy of the HbS variant on to each or their children.

“23andMe is making genetic testing more accessible anyone wanting to find out more information about their carrier status,” said Dr. Jason Payne, pediatric hematologist and sickle cell doctor at Morehouse School of Medicine.

What is sickle cell anemia?

Sickle cell anemia is a genetic condition caused by a specific genetic variant called HbS in a gene called HBB. The HBB gene contains instructions for making part of the hemoglobin protein, which is found in red blood cells and transports oxygen through the body. Inheritance of two copies of the HbS variant can lead to changes in the structure of hemoglobin, uncertain situation.

This can cause the hemoglobin to stick together and form long, rigid molecules that distort red blood cells into a sickle (crescent) shape. These sickled cells get destroyed prematurely, leading to anemia and symptoms such as fatigue. These cells can also get stuck in small blood vessels, which can lead to pain crisis, frequent infections, and complications including kidney damage, acute chest syndrome, and stroke.

Who is impacted by sickle cell anemia?

Sickle cell anemia affects people around the world. It is most common in people of African descent, but it also impacts people of Middle Eastern and South Asian descent, and people from the Caribbean, the Mediterranean, and parts of Central and South America. 

The HbS variant that causes sickle cell anemia is most common among people with ancestry from places where malaria is endemic, as having one copy of the HbS variant (also known as having sickle cell trait) provides significant protection against severe malaria. 

23andMe’s updated Sickle Cell Anemia report can now inform customers with two copies of the HbS variant that they are at risk of developing symptoms of sickle cell anemia. These customers will also receive information about how their result may be relevant for their children and for other relatives. 

How sickle cell anemia is inherited

In order to have sickle cell anemia, a person must inherit two copies of the HbS variant – one from each biological parent. People with just one copy of the of the HbS variant are called carriers; they’re also said to have sickle cell trait. They’re not expected to have sickle cell anemia themselves, and they typically do not experience any health complications. 

But they could pass their variant on to their future children. If their partner has the HbS variant or another variant in the HBB gene, there’s a 25 percent chance that each child may have sickle cell anemia or a related blood disorder.

Why its important to learn about sickle cell anemia

About 1 in 13 African Americans and ~300 million people worldwide are carriers for sickle cell anemia. But individual and community awareness of sickle cell anemia and how it’s inherited is often limited. 

For example, although all 50 U.S. states include newborn screenings for sickle cell trait and sickle cell disease, many people with sickle cell trait do not know their status, in part because it’s up to individual state health departments to follow-up with those families, leading to variability in who recipes their results, how they are notified, and how much follow-up and counseling is provided. 

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