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Thalassemia is an inherited blood disorder (i.e., passed from parents to children through abnormal genes). This is meant to say that at least one parent must be a carrier of the disease in order for it to be passed down.) This condition happens whereby the body doesn’t make enough of a hemoglobin (a protein that carries oxygen in the red blood cells).
When there is an insufficient amount of hemoglobin, the body’s red blood cells do not function properly and they last shorter periods of time. As a result, there are fewer healthy red blood cells traveling in the bloodstream, thus, there is also not enough oxygen delivered to all the other cells of the body.
When our body cells do not receive enough oxygen, the person might:
Getting short of breath
These symptoms lead to a condition called anemia. There are other symptoms, depending on the types and severity of thalassemia.
Our hemoglobin consists of 2 chains—alpha and beta chains. When there is a gene mutation, either in alpha chain or beta chain, the production of the alpha or beta chain will be reduced, hence leading to alpha thalassemia, or beta thalassemia, respectively.
There are four genes involved in making the alpha chain. You get two from each of your parents. The severity of the condition depends on the amount of alpha-gene that is deleted.
One deleted gene: Almost has no signs or symptoms of thalassemia, but you are a carrier of the disease and can pass it on to your children.
Two deleted genes: Shows mild signs and symptoms.
Three deleted genes: Shows moderate to severe signs and symptoms.
Four deleted genes: The most severe form of alpha thalassemia and usually results in stillbirth or dies shortly after birth.
There are two genes involved in making the beta chain. You get one from each of your parents. The severity of the condition depends on the amount of beta-gene that is mutated.
One mutated gene: Shows mild signs and symptoms (thalassemia minor).
Two mutated genes: Shows moderate to severe signs and symptoms (thalassemia major). Babies born with thalassemia major are usually healthy at birth, but disease starts to manifest after 6 months.
People with moderate and severe forms of thalassemia usually find out about their condition in childhood, since they have symptoms of severe anemia early in life. People with mild forms of thalassemia may only find out because they are having symptoms of anemia, or due to an incidental finding of anemia on a routine blood test or a test done for another reason such as pre-mearital screening.
Because thalassemias are inherited, this condition sometimes runs in families. Some people find out and test themselves for thalassemia because they have first or second relatives diagnosed with a similar condition.
People who have family members from certain parts of the world such as the Middle East and Southeast Asia have a higher risk for having thalassemia. If you have anemia and you also have family members from these areas, your doctor might do further blood workup to find out if you have thalassemia.
Again, thalassemia is treated depending on the type and severity of the disease.
Mild thalassemia (hemoglobin level is within 6 - 10 g/dL)
Most of the time, patients diagnosed with mild symptoms do not require treatment. Occasionally, these individuals might need a blood transfusion, especially after surgery, following childbirth, or to help manage thalassemia complications.
Moderate to severe thalassemia (hemoglobin level is less than 5 - 6 g/dL)
Individuals with moderate to severe thalassemia require need frequent blood transfusions up to once monthly in severe conditions. However with frequent blood transfusion, it is also important to ensure that iron levels in the body are maintained within the normal range by chelation therapy. Any excessive iron will need to be removed from your blood, which otherwise can get deposited in various organs in our body.
Some individuals might also need bone marrow transplant, which can eliminate the need for lifelong blood transfusions. Individuals with thalassemia major who require frequent blood transfusion, complicated with iron overload often undergo a surgical procedure to remove the spleen (splenectomy). Splenectomy helps to decrease red blood consumption and reduces blood transfusion requirements.
Because thalassemia is passed from parents to children, it is almost impossible to prevent it completely.
However, if you are diagnosed with thalassemia, there are few things you can do to stay healthy with despite having this condition:
Avoid excess iron
Unless the doctor instructs you, individuals with thlassemia should avoid multivitamins or other supplements that contain iron at all cost. During your routine blood test, if the levels of iron in the body is high, medications (iron chelators) will be given to remove extra iron from the body.
Drinking tea aids in reducing iron absorption. So, individuals with thalassemia are encouraged to drink tea regularly. Vitamin C helps in iron excretion from the body, particularly when taken together with iron chelators. However, there is a high risk of fatal arrhythmias (a fatal condition where your heart beats faster than normal times) when large quantities of vitamin C is consumed. Therefore, it is recommended to take the recommended dose of vitamin C, after discussing with you treating doctor.
Eat a healthy diet
Eating a balanced diet that contains plenty of nutritious foods can help you feel better and boost your energy. Doctors sometimes also recommend taking a folic acid supplement to help make new red blood cells.
Individuals should try to protect themselves as best as possible from infections, especially following a splenectomy. An annual flu shot, vaccination to protect against meningitis, pneumococcal, and hepatitis B are recommended to prevent infections.
Read about vaccination schedule.
When one of your parents is thalassemic or a carrier of thalassemia, there is a small chance of you being tested positive for thalassemia as well. If you are exhibiting any of thalassemia symptoms, do get your blood checked to know your condition better. Remember to always talk to your doctor or any healthcare professionals first if you have any questions or require guidance regarding your condition.
Medically reviewed by Ashwini Nair, MB BCh BAO.
1. Bajwa H, Basit H. Thalassemia. In: StatPearls. StatPearls Publishing; 2022. Accessed May 2, 2022. http://www.ncbi.nlm.nih.gov/books/NBK545151/
2. CDC. What is Thalassemia? | CDC. Centers for Disease Control and Prevention. Published May 14, 2020. Accessed May 2, 2022. https://www.cdc.gov/ncbddd/thalassemia/facts.html
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