DNA Carrier Testing for Thalassemia
Thalassemia
When most people think of DNA testing, Thalassemia is probably not the first thing that comes to mind. However, even for those that do not exhibit any symptoms, DNA carrier testing for Thalassemia is an important way to ensure that you do not unwittingly pass on this severe illness. But what is all of the fuss about? What is Thalassemia?
Thalassemia
Thalassemia is a genetic blood disorder that causes the blood to make an odd kind of hemoglobin. Hemoglobin is the protein in red blood cells that allows for oxygen to be carried throughout your body. With Thalassemia, a large percentage of red blood cells are destroyed by the abnormal hemoglobin. This destruction of blood cells often leads to anemia.
That is how it works, but what about the symptoms? The most severe symptom of Thalassemia is a stillbirth, but there are other symptoms that those with Thalassemia may display. These includes:
- Facial bone deformities
- Failure for bones to grow properly
- Exhaustion
- Shortness of breath
- Jaundice
This illness is clearly a severe one, so who should consider DNA carrier testing for Thalassemia?
Testing
If you have an interest in any of the following categories, it is important that you be tested for the Thalassemia carrier gene.
Family Planning
- If both you and your partner are carriers for Thalassemia, you may pass on the disease to your unborn child.
- If you have the carrier gene but your partner does not, you may pass it on to your child. Knowing this is essential for family planning through the generations.
Pregnancy
- Pregnant women with the carrier gene are at an increased risk to develop anemia. It is important that you and your doctor be aware of this.
Personal Health
- If you have the carrier gene, your red blood cells may be smaller than normal. Knowing that you have the carrier gene will allow you to avoid unnecessary medical tests in the future.
- A doctor can easily mistake Thalassemia carrier symptoms for symptoms of anemia and will likely prescribe iron supplements. This will lead to an excess of iron in the body, which can cause organ damage.
The good news is that testing is simple. Any doctor can perform a test with only one blood sample. However, it is important that the test examines three areas: complete blood count, iron studies, and hemoglobin electrophoresis. If all of these conditions are meant, it is a simple matter to determine if you possess the carrier gene.
Be Informed
It is incredibly easy to protect yourself and your family from this serious illness so long as you get tested. With such a simple testing procedure, there is no reason to not know your Thalassemia status. After all, who would want to sit in the dark about an illness like this?