Thalassemia is a blood disorder that leads to your body having an abnormally low amount of haemoglobin. Haemoglobin is a protein in red blood cells that binds oxygen and carries it throughout the body. Thalassemia is inherited from one’s parents and can lead to a lack of proper oxygenation of the body’s tissues. This can cause anaemia and related symptoms like fatigue and chills.
Common signs and symptoms of thalassemia include:
The symptoms of thalassemia will vary based on the type of thalassemia you have and how severe it is. Some children may show symptoms early, others may not until later in life, and some may never experience any symptoms.
Thalassemia is caused by changes in the genes that encode the haemoglobin protein. These changes, or mutations, are received by children from their parents. Haemoglobin protein is made up of alpha chains and beta chains. Individuals either inherit a mutation that affects the alpha chain, leading to alpha-thalassemia, or the beta chain, leading to beta-thalassemia.
If you have alpha-thalassemia, the severity of the disease is affected by how many changed genes you inherit from your parents. Four genes contribute to making an alpha-haemoglobin chain. If one is mutated, you will not have any symptoms of thalassemia. If two are mutated, you’ll have mild signs and symptoms. If three are mutated, you will have moderate to severe symptoms. A baby with four mutated alpha-haemoglobin genes is rare and usually results in stillbirth.
If you have beta-thalassemia, the severity of the disease is determined by what part of the haemoglobin molecule is affected. Only 2 genes contribute to making the beta-haemoglobin genes. If you have one mutated beta-haemoglobin gene, you’ll have mild symptoms. This is called beta-thalassemia or thalassemia minor. You’ll have moderate to severe symptoms if you have two mutated genes. This is called thalassemia major.
Risk factors for thalassemia include a family history of the disease and African American, Southeast Asian, and Mediterranean descent.
If you or your child’s doctor suspects thalassemia, the diagnosis can be confirmed with a blood test. A blood test will show any red blood cell abnormalities and can also be used to run DNA tests to determine if you or your child have any thalassemia-related genetic mutations.
Prenatal testing can be done in pregnant mothers to test for thalassemia.
Complications of thalassemia include:
Working with a comprehensive care team is vital to avoid significant complications and ensure proactive, effective treatment.
Moderate to severe thalassemia does require treatment. This may look like:
Mild forms of thalassemia will not require treatment. Since thalassemia is inherited, it’s impossible to prevent it. Parents trying to conceive may want to undergo genetic counselling or undergo genetic testing in early pregnancy to assess for thalassemia.