Thalassemia is a fairly common genetic blood disorder, especially in Southeast Asia, including Indonesia. According to the Indonesian Health Survey (SKI) 2023 report released by the Ministry of Health, there were a number of cases of congenital disorders in infants or children aged 0-59 months in Indonesia in 2023. Among the various types of congenital disorders detected, thalassemia is the most common with a proportion of 0.56% of the total survey population of 86,231 children. This condition demonstrates the importance of awareness and knowledge about thalassemia to prevent a greater impact on future generations.
What is Thalassemia, and What Causes It?
Thalassemia is a heterogeneous group of genetic disorders that result from decreased synthesis of hemoglobin (Hb) alpha or beta chains. Hemoglobin is the oxygen-carrying component of red blood cells. Hemoglobin consists of two proteins, alpha and beta. If the body does not produce enough of one or both of these proteins, red blood cells do not form properly and cannot carry enough oxygen. Thalassemia is an inherited or autosomal recessive disease, meaning that at least one parent must be a carrier. The disease is caused by genetic mutations or deletions of certain key gene fragments.
What are the Signs and Symptoms of Thalassemia?
There are several types of thalassemia, and the signs and symptoms you experience will depend on the type and severity of your condition. Common signs and symptoms of thalassemia may include:
Fatigue
Weakness
Anemia
Pale or yellowish skin
Facial bone deformities
Slow growth
Swelling of the abdomen
Dark colored urine
Some babies show signs and symptoms of thalassemia at birth, while others develop them during the first two years of life. Some people who have only one affected hemoglobin gene have no thalassemia symptoms. The signs and symptoms of thalassemia are specific to the type of thalassemia.
Types of Thalassemia
Based on the severity, thalassemia is divided into:
1. Thalasemia Minor
Thalassemia minor occurs when a person inherits only one copy of the thalassemia gene from one parent (carrier). People with thalassemia minor usually have no symptoms or only mild symptoms, such as mild anemia.
2. Thalasemia Mayor
People with thalassemia major have more severe symptoms, such as severe anemia, fatigue, enlarged liver and spleen, and stunted growth. They need regular blood transfusions to survive.
Based on the hemoglobin protein chain that undergoes mutation, thalassemia is divided into:
Thalasemia Alpha
Alpha thalassemia is a blood disorder that results from mutations or deletions in the alpha-globin gene. There are four genes involved in the production of alpha hemoglobin chains, and an individual receives two copies of each gene from their parents. Inheritance of alpha thalassemia can occur in one of two ways:
A single mutated gene is insufficient to manifest any signs or symptoms of thalassemia. However, the individual in question is a carrier of the disease and, as a result, is capable of transmitting it to their offspring.
In the event of two mutated genes, the signs and symptoms of thalassemia will be relatively mild. This condition is referred to as alpha thalassemia trait.
The presence of three mutated genes (HbH) will result in the manifestation of moderate to severe signs and symptoms.
A mutation of four genes (Hb Bart's) is typically associated with either stillbirth or hydrops fetalis.
Thalasemia Beta
Beta thalassemia is a genetic blood disorder that is characterized by a reduction in the production of beta globin hemoglobin chains, which ultimately results in the development of anemia. Two genes are involved in the production of the hemoglobin beta chain. Each individual receives one copy from each parent. In the event of inheritance,
A single mutated gene may result in the manifestation of mild signs and symptoms. This condition is referred to as minor thalassemia or beta thalassemia.
In the event of two mutated genes, the signs and symptoms will manifest at a moderate to severe level. This condition is referred to as major thalassemia or Cooley's anemia.
Infants born with two defective beta hemoglobin genes typically exhibit no signs of illness at birth. However, they often develop indications of disease within the first two years of life. A less severe form, designated as thalassemia intermedia, may also arise from the presence of two mutated genes.
What are the Complications of Thalassemia?
Thalassemia can cause a variety of serious complications, including:
Severe anemia: People with thalassemia often have severe anemia, which can lead to fatigue, weakness, and a lower quality of life.
There's also an increased risk of infection. People with thalassemia have a weaker immune system, so they're more likely to get infections.
Stunted Growth and Development: Severe anemia can impact the growth and development of children with thalassemia.
Another thing to be aware of is iron overload. People with thalassemia can have too much iron in their bodies, either because of an illness or because they've had a lot of blood transfusions.
Bone deformities. Thalassemia can cause your bone marrow to expand, which makes your bones wider. This can result in an abnormal bone structure, particularly in the face and skull.
Organ disorders: People with thalassemia can have an enlarged liver and spleen, as well as complications with the heart, liver, and endocrine system.
How to Prevent Thalassemia?
Since thalassemia is an inherited genetic condition, it's not possible to prevent it completely. There are a few things we can do to reduce the risk of thalassemia:
Genetic Counseling: Genetic counseling before marriage or pregnancy can help couples understand the risks of thalassemia and make informed decisions.
Prenatal Screening: Prenatal screening can be done to detect thalassemia in the fetus during pregnancy.
Thalassemia is an inherited genetic disease. If both prospective parents know their genetic status, there's a lower risk of having a child born with thalassemia major. It's really important to get thalassemia screened before marriage as a way of stopping the disease from passing on to future generations. When people have a better understanding of thalassemia types, symptoms, and treatment options, they and their families can lead healthier and higher-quality lives. Don't forget to get your thalassemia screening test done at K-LAB Medical Center. If you'd like more information about this test, you can reach out to our WhatsApp clinic at 081381367915.
Sumber Informasi :
1. NCBI: Thalassemia
2. Mayo Clinic: Thalassemia
3. Kementrian Kesehatan: Thalassemia
4. Medline Plus : Alpha Thalassemia
5. NCBI: Beta Thalassemia
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