What is Thalassemia?

It is important to understand the medical condition first before you go further into understanding its causes, symptoms, and treatment. So, let’s understand what Thalassemia is. Thalassemia is a genetic blood disorder in which the body produces an abnormal form of hemoglobin. What is Haemoglobin? Hemoglobin is the protein in red blood cells that carries oxygen. This blood disorder of producing an inadequate amount of hemoglobin results in the destruction of red blood cells in a large number, which eventually leads to anemia.

Thalassemia is caused due to the mutation of one’s genes that are involved in the production of hemoglobin. This disorder is passed on to you by your parents. If one of the parents is the carrier, then you are likely to get thalassemia minor, but if both the parents are carriers, then you will inherit a serious form of the blood disorder. The symptoms are usually seen within the first two years of the child’s birth, but there are cases where the symptoms are seen soon after the baby is born.

Most of the common symptoms are:

1. Fatigue

2. Weakness

3. Pale or yellow skin tone

4. Delayed growth

5. Bone deformities

6. Dark urine

The diagnosis of Thalassemia can be confirmed with a blood test. The lab technician checks for the number of red blood cells and abnormalities in the size, shape, or color. Blood tests can also help in DNA analysis to look for mutated genes. Prenatal testing is another way to diagnose thalassemia and severity. Tests used to diagnose Thalassemia in fetuses include Chorionic Villus Sampling and Amniocentesis. Chorionic Villus Sampling is done usually in the 11th week of pregnancy. This test involves removing a tiny piece of the placenta for evaluation. And Amniocentesis is usually done in the 16th week of pregnancy. This includes examining a sample of the fluid that surrounds the fetus.

Mild forms of Thalassemia do not need treatment. However, for moderate to severe Thalassemia, treatments include:

Blood Transfusions: Severe forms of Thalassemia require frequent blood transfusions, possibly every few weeks. Blood transfusions cause a build-up of iron in the blood over the course of time, which can cause damage in the heart, liver, and other organs. To avoid this from happening, Chelation Therapy is required.

Chelation Therapy: This treatment is used to remove excess iron from the blood to keep your health in check. Frequent blood transfusions can result in building up the iron in the blood which is dangerous for your health. Having said that, there are chances that you would have excess iron in the blood even without blood transfusion. Thus, it is important to keep a check on your health from time to time.

Stem Cell Transplant: It is also known as bone marrow transplant. It might prove to be beneficial in some cases. For Children with severe Thalassemia, it can eliminate the need for lifelong blood transfusions and drugs to control iron overload.

Some lifestyle changes and home remedies might also work with Thalassemia patients. Avoiding excess iron, eating healthy diets, and avoiding getting infections can also help the patients.
You can’t skip from inheriting thalassemia from your parents, but it surely can be treated. If you carry a Thalassemia gene or have Thalassemia, consider talking to a genetic counselor for guidance when you are planning to have children.

  1. https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001
  2. https://www.hoacny.com/patient-resources/blood-disorders/what-thalassemias/other-names-thalassemias/treatment-thalassemias
  3. https://my.clevelandclinic.org/health/diseases/14508-thalassemias/management-and-treatment

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