World Thalassemia Day which is commemorated every May 8 is an important moment to increase awareness and support for thalassemia sufferers. This year, the theme is "Empowering Lives, Embracing Progress: Equitable and Accessible Thalassemia Treatment for All".
What is Thalassemia?
Thalassemia is a genetic blood disorder, passed down from parents and causes the body to produce abnormal hemoglobin (oxygen-carrying protein in the blood), so that red blood cells become fragile and easily destroyed. This can result in chronic anemia (lack of blood), fatigue, pale face, stunted growth, enlargement of the spleen and liver, and bone abnormalities.
Causes of Thalassemia?
Thalassemia is caused by mutations in the DNA of cells that produce hemoglobin, which carries oxygen throughout the body. The hemoglobin molecule is made of chains called alpha and beta chains that can be affected by mutations. In thalassemia, the production of alpha or beta chains is reduced, resulting in alpha thalassemia or beta thalassemia.
- Alpha thalassemia
This type of thalassemia has four genes involved in making alpha hemoglobin chains. The severity of alpha thalassemia depends on the number of gene mutations passed down from parents. The more mutated genes, the more severe thalassemia will be.
- Beta thalassemia
This type of thalassemia has two genes involved in making beta hemoglobin chains. The severity of beta thalassemia depends on which part of the hemoglobin molecule is mutated. Babies born with two defective beta hemoglobin beta genes are usually healthy at birth but will experience symptoms within the first two years of life.
Thalassemia Risk Factors
The following are some factors that increase the risk of thalassemia:
- Thalassemia in family history.
Parents can pass thalassemia on to their offspring through mutations in the hemoglobin gene.
- A certain bloodline.
People of Mediterranean and Southeast Asian descent, as well as African Americans, are the most common populations suffering from thalassemia.
Here are the key points we need to know:
1. Impact of Thalassemia
Below are several conditions that can be found in thalassemia sufferers, such as:
- Anemia
One of the main effects of thalassemia is anemia, which is a condition that the body lacks healthy red blood cells. Anemia can cause fatigue, dizziness, shortness of breath, and pale skin.
- Growth Disorders
In children, thalassemia can inhibit growth and development. It is caused by a lack of oxygen reaching the tissues of the body due to anemia. Children with thalassemia may experience stunted growth, delayed puberty, and delays in cognitive development.
- Heart Complications
Thalassemia can cause damage to the heart due to excessive workload. This happens because the heart has to work harder to pump oxygen-deprived blood. In addition, damage to the heart can also be caused due to iron buildup in the body.
- Damage to other organs
Damaged red blood cells and iron buildup due to thalassemia can affect other organs, such as the liver and spleen. This can cause organ damage and interfere with its function.
- Death
In severe cases, thalassemia can be fatal. This usually occurs due to heart complications or severe organ damage.
2. Signs and Symptoms of Thalassemia
Below are several signs and symptoms of thalassemia, such as:
- Excessive fatigue
- Pale or yellowish skin
- Stunted growth
- Deformities of the facial bones
- Abdominal swelling
- Difficulty breathing
3. Thalassemia Treatment
Treatment of thalassemia includes a variety of therapies that can be done based on the severity. Some types of thalassemia treatment, such as:
- Blood Transfusion
Routine blood transfusions are the main treatment for thalassemia. Blood transfusions help increase hemoglobin and red blood cell levels, thereby relieving symptoms of anemia. The frequency of blood transfusions varies depending on the condition of the individual.
- Chelation Therapy
Used to remove excess iron that accumulates in the body due to blood transfusions. Excess iron can cause damage to the liver, heart, and endocrine glands. Chelation therapy can be carried out with oral drugs or injections.
- Bone Marrow Transplant
Is a curative choice for thalassemia. A bone marrow transplant replaces the damaged bone marrow with healthy bone marrow from a donor. This procedure is high-risk and is only performed on certain patients who meet the criteria
- Symptom Management
In addition to the main therapy, thalassemia treatment also includes folate administration to help the formation of new red blood cells, implementation of a healthy lifestyle, including a balanced diet, regular exercise, and avoiding stress. Here are some things to note:
Consumption of tea, can reduce the absorption of iron in the digestive tract, making it beneficial for those who suffer from thalassemia.
Vitamin C, helps the removal of iron, especially when combined with deferoxamine. However, large doses without deferoxamine may increase the risk of arrhythmias.
Individuals suffering from thalassemia, should seek education regarding the prevention and management of their condition, which should include avoiding iron supplements, eating a balanced diet, and preventing infections. Patients should also seek information regarding the genetic characteristics of the disease and the potential transmission of the disease to offspring who have defective beta-globin genes. Iron supplements do not help treat anemia, and if the patient is already receiving blood transfusions, they can worsen iron buildup.
Let's together raise awareness about thalassemia and support efforts to ensure fair and equitable access to treatment for all affected individuals.
Reference:
- Thalassemia International Federation , Staff. International Thalassemia Day | Announcing The 2024 Theme!. thalassaemia.org.cy. Last reviewed April, 2024. Available on: https://thalassaemia.org.cy/news/itd2024-theme/
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- Grentina. Get to know Thalassemia. idai.or.id. Last reviewed December 05, 2016. Available on: https://www.idai.or.id/artikel/seputar-kesehatan-anak/mengenal-thalasemia