Thalassemia is a disease that occurs due to mutations that occur in the DNA of the cells that are responsible for producing hemoglobin. The mutations are passed down from the parents to their children.
Hemoglobin is made of two strands or chains – alpha and beta. Depending on the type of mutation inherited and the part of the hemoglobin molecule affected, there are different types of thalassemia.
Alpha thalassemia is the condition which is caused when the alpha-chain of the hemoglobin molecule is affected, and beta thalassemia when the beta-chain is affected.
Alpha Thalassemia – The alpha chain of hemoglobin is made up of 4 genes in total, 2 each is received from the parents.
- If you receive only one mutated gene, you will have no signs and symptoms. You will remain a carrier of the disease and will pass it onto your children.
- If you receive 2 mutated genes, your condition will be called as alpha thalassemia minor and the symptoms will be mild.
- Receiving 3 mutated genes will make your symptoms to range from moderate to severe. The condition is called hemoglobin H disease.
- Receiving all 4 mutated genes leads to alpha thalassemia major. The condition is also called hydrops fetalis. The condition usually causes the fetus to die in-utero or shortly after birth.
Beta Thalassemia – Beta thalassemia is made of 2 genes in total. You receive one each from your parents.
- If you receive one mutated gene, you will have mild symptoms and the condition is called as beta thalassemia minor.
- If you receive 2 mutated genes, the condition is called as beta thalassemia major or Cooley’s anemia. The signs and symptoms are normally manifested after 2 years of normal life after birth.
Signs and Symptoms of Thalassemia
The signs and symptoms are related to low oxygen supply to the various tissues and organs. They include:
- Fatigue.
- Dizziness.
- Yellow discoloration of skin and eyes.
- Slow growth.
- Swollen abdomen.
- Dark yellow urine.
Thalassemia is usually diagnosed by a complete blood count where the amount of hemoglobin and the morphology of the red blood cells are assessed.
Prenatal testing includes chorionic villus sampling done at 11 weeks and amniocentesis done at 16 weeks.
Complications of Thalassemia
Children suffering from thalassemia have complications due to iron overload. This overload is either due to the disease itself or due to the frequent blood transfusions. Too much iron can damage the liver, kidneys, and spleen.
In cases of severe Thalassemia, bone deformities and splenomegaly are commonly seen.
Thalassemia causes the bone marrow to expand leading to abnormally shaped and large bones. The malformed red cells are sent to the spleen to be disposed off and since the spleen works overtime in thalassemia, it leads to an abnormally enlarged spleen.
Thalassemia is managed with the help of frequent blood transfusions. However, this too has its side-effect of iron overload. This has to be further managed with drugs that help the body get rid of the excess iron.
Bone marrow transplant or stem cell therapy remain an option in treating thalassemia, but they remain extremely risky and are reserved for extreme cases.
