What is Thalassemia?
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Thalassemia is a genetic disorder that affects the production of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. Individuals with thalassemia produce fewer healthy red blood cells and have anemia, a condition in which there are not enough red blood cells to carry oxygen to the body’s tissues.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. It’s caused by either a genetic mutation or a deletion of certain key gene fragments. Thalassemia minor is a less serious form of the disorder.
Thalassemia Type
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There are several types of thalassemia, which are classified based on which part of the hemoglobin molecule is affected and how many genes are involved. The two main types of thalassemia are alpha thalassemia and beta thalassemia.
Alpha thalassemia occurs when there are mutations in the genes that produce alpha globin, which is a component of the hemoglobin molecule. There are four alpha globin genes, two of which are inherited from each parent. Depending on how many of these genes are mutated, alpha thalassemia can be classified as follows:
- Silent carrier: One mutated gene, no symptoms.
- Alpha thalassemia trait: Two mutated genes, mild anemia.
- Hemoglobin H disease: Three mutated genes, moderate to severe anemia and other symptoms.
- Alpha thalassemia major: All four genes mutated, usually fatal in utero or shortly after birth.
Beta thalassemia occurs when there are mutations in the genes that produce beta globin, another component of the hemoglobin molecule. There are two beta globin genes, one inherited from each parent. Depending on how many of these genes are mutated, beta thalassemia can be classified as follows:
- Beta thalassemia minor: One mutated gene, mild or no symptoms.
- Beta thalassemia intermedia: Two mutated genes, moderate to severe anemia and other symptoms.
- Beta thalassemia major (also known as Cooley’s anemia): Both genes mutated, severe anemia and other symptoms that require lifelong medical treatment.
There are also other less common types of thalassemia, including delta beta thalassemia and gamma delta beta thalassemia. The severity and symptoms of thalassemia can vary widely depending on the type and number of genes affected. It is important to work closely with a healthcare provider to manage symptoms and receive appropriate treatment.
Symptoms of Thalassemia
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The symptoms of thalassemia can vary depending on the type and severity of the condition. Some people may have mild symptoms, while others may experience severe symptoms that require medical intervention. Common symptoms of thalassemia include:
- Fatigue and weakness
- Pale or yellowish skin
- Shortness of breath
- Delayed growth and development
- Abdominal swelling and discomfort
- Dark urine
- Jaundice
- Bone deformities (in severe cases)
Infants with thalassemia may show signs of the condition within the first two years of life. These symptoms may include:
- Poor appetite and slow growth
- Fatigue and weakness
- Abdominal swelling and discomfort
- Jaundice
It’s important to note that some people with thalassemia may not have any symptoms, or may have only mild symptoms that do not require treatment. If you are concerned that you or someone you know may have thalassemia, it’s important to speak with a healthcare provider to discuss testing and diagnosis.
Causes of Thalassemia
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Thalassemia is a genetic disorder, which means that it is caused by changes (mutations) in one or more genes that are involved in the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen from the lungs to the body’s tissues. There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Alpha thalassemia is caused by mutations in the genes that produce alpha globin, while beta thalassemia is caused by mutations in the genes that produce beta globin. In order to develop thalassemia, a person must inherit a mutated gene from one or both parents. The severity of thalassemia depends on how many mutated genes a person has inherited.
If a person inherits one mutated gene, they may have mild or no symptoms and are said to be carriers of the condition. If a person inherits two mutated genes, one from each parent, they will have thalassemia and are at risk for more severe symptoms. Thalassemia is most commonly found in people of Mediterranean, Middle Eastern, and Southeast Asian descent. However, it can occur in people of any race or ethnicity. If you are concerned that you or someone you know may be at risk for thalassemia, it’s important to speak with a healthcare provider to discuss genetic testing and diagnosis.