Know Your Genes, Protect Your Future: Sickle Cell Anemia Testing Benefits

Everything you need to know about sickle cell anemia testing and how to diagnose this genetic disease.

3 min read

Sickle cell anemia is a blood illness that is passed down through genes. The oxygen-carrying protein hemoglobin in the red blood cells is defective, leading to the condition.

What are the causes of Sickle Cell Anemia?

People with sickle cell anemia have abnormal hemoglobin that makes their red blood cells take on a circular, or “sickle,” form. This can cause a number of problems. These crooked cells can block blood vessels and stop oxygen from getting to tissues and organs as it should. A defective gene that develops in parents who have it is the cause of sickle cell anemia.

What exactly is the genetic mutation?

The issue is due to a change in the HBB gene, which causes the body to produce abnormal hemoglobin S (HbS). Normal red blood cells are round and bendy, which makes it easy for them to move through the blood vessels. With the mutated gene, red blood cells become stiff and take on the sickle shape when they have HbS, making it difficult to move naturally through the body.

Complications and Management of Sickle Cell Anemia

Reduced oxygen supply to tissues results from their inability to freely circulate through blood vessels due to their abnormal form. Pain, organ failure, and an increased risk of infection are among the consequences. Although there is currently no known cure for sickle cell anemia, its symptoms and consequences may be managed with a number of different medications and procedures. Treatments such as bone marrow transplants, blood transfusions, and medicines are all examples.

Why get tested?

There are a number of reasons why people who are part of populations at increased risk for Sickle Cell Anemia should be checked. Here are some potential benefits of testing for sickle cell anemia:

Early Detection and Treatment: The earlier a disease is identified, the sooner it may be treated. The quality of life for people with this disorder may be greatly enhanced with prompt diagnosis and treatment of any consequences or symptoms.
Informed Family Planning: Because it’s passed down from parents, knowing your carrier status may help you make educated choices regarding family planning if you’re trying to conceive or are currently pregnant. It is possible for a kid to get the condition if both parents are carriers, since the child would inherit two copies of the faulty gene.
Preventative Measures: A genetic counselor can help you weigh the pros and cons of different treatment choices if you learn that you have the Sickle Cell Anemia gene. You and your doctor may also make preventive efforts to control and lower these risks if you know your status.
Educational and Support Resources: In the event of a positive test, more research into the disease, its symptoms, and treatment options could be pursued. Helpful advice and services are available from a wide variety of sources.

Do you belong to a vulnerable group?

Africans, Mediterraneans, Middle Easterners, and South Asians have an increased risk of having sickle cell anemia. Getting a sickle cell anemia test may be especially important if you fit into one of these ethnic groups.

Keep in mind that LabFinder was created to streamline your access to any and all medical laboratory testing, including sickle cell anemia testing. Direct access to testing services and streamlined contact with healthcare specialists put you in charge of your own health. If you’re thinking about getting a medical test done, you should always talk to your doctor first to figure out what’s best for your health.