You Could Have a Genetic Condition Without Even Knowing It

When most people think of genetic diseases, they imagine someone who has obvious symptoms or has known about their condition since birth. However, that isn’t always the case. According to a study conducted at a blood transfusion center in Madagascar, some completely healthy blood donors were found to have sickle cell trait without even knowing it.

What Is Sickle Cell Trait?

To understand the study, it’s important to know the difference between sickle cell disease and sickle cell trait.

People with sickle cell disease inherit two copies of the sickle cell gene, which causes red blood cells to become sickle-shaped. These misshapen blood cells do not move through the body as easily and can lead to pain, anemia, and other serious health problems.

People with sickle cell trait, however, inherit only one copy of the gene. Most have no symptoms and live completely normal lives. Because of this, many people never realize they have the trait.

What Did the Researchers Do?

The researchers wanted to determine how common sickle cell trait was among healthy blood donors.

Over a four month period, they studied 427 blood donors between the ages of 18 and 64 at a regional blood transfusion center in Madagascar.

Each donor first received an Emmel test, which is used to screen for sickle cell trait. If the screening test came back positive, the researchers confirmed the result using hemoglobin electrophoresis, a laboratory test that identifies the type of hemoglobin, the oxygen carrying protein in a person’s blood.

Results

Out of the 427 blood donors, five people tested positive for sickle cell trait. This means that about 1.17% of the donors carried the gene. The most surprising finding was that none of these donors knew they had sickle cell trait before participating in the study. Even though they felt healthy enough to donate blood, they had been carrying the gene their entire lives without realizing it.

The Takeaway

Although people with sickle cell trait are usually healthy, knowing whether you carry the gene is still important. If two parents both have sickle cell trait, they have a chance of having a child with sickle cell disease, which is much more serious. Learning your genetic status can help families make informed healthcare decisions. The researchers also explained that screening blood donors helps improve the overall safety and quality of the blood supply while giving donors valuable information about their own health.

This study shows that you do not always have to feel sick to carry a genetic condition. In this study, about 1 out of every 100 healthy blood donors was found to have sickle cell trait without knowing it beforehand. While sickle cell trait usually does not cause health problems, knowing your status can help both you and future generations make informed medical decisions.

Fenomanana, J., Rakotoniaina, I., Manantsoa, S. N., Randriamahenina, H., & Randriamanantany, Z. A. (2020). Prévalence du trait drépanocytaire chez les donneurs de sang au centre régional de transfusion sanguine de la région Haute Matsiatra Madagascar. Pan African Medical Journal, 36, 329. https://doi.org/10.11604/pamj.2020.36.329.21478