Parents are always watchful for the good health of their children. Various blood disorders could affect them, and one such is Thalassemia. Thalassemia is an inherited blood disorder passed down through families in which the body makes an abnormal form of hemoglobin. This blood disorder can cause anemia and may need lifelong treatment. It's important to be aware of the symptoms and get regular checkups done to ensure early diagnosis and effective treatment. In this blog, we will discuss Thalassemia, its symptoms, and treatments in detail.
Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. The abnormal hemoglobin causes the red blood cells to break down prematurely, leading to anemia. Thalassemia can be mild or severe, depending on how many genes are affected. Thalassemia is classified as either alpha or beta thalassemia, depending on which part of the hemoglobin molecule is affected.
There are two types of Thalassemia, depending on which part of the hemoglobin molecule is affected:
Alpha thalassemia occurs when there is a mutation in one of the four alpha-globin genes. Alpha globin genes are found on chromosome 16. A person with alpha thalassemia has two working copies of the alpha-globin gene and two mutated copies. The severity of alpha thalassemia depends on how many working copies of the gene a person has.
If a person has three working copies of the alpha-globin gene, they have mild alpha thalassemia. This type is also called alpha thalassemia minor. People with mild alpha thalassemia may not have any symptoms.
If a person has two working copies of the alpha-globin gene, they have a moderate form of the condition, called hemoglobin H disease. People with this form of alpha thalassemia may have mild anemia and some other blood disorders.
If a person has only one working copy of the alpha-globin gene, they have a severe form of the condition called hydrops fetalis. This is a very rare and serious form of alpha thalassemia. Hydrops fetalis can cause anemia so severe that it leads to heart failure and death in newborn babies.
There are two main types of beta-thalassemia:
Thalassemia minor is the less serious form of the condition. People with Thalassemia minor usually have no symptoms. In some cases, they may have mild anemia.
Thalassemia major is the more serious form of the condition. People with this form of beta-thalassemia have severe anemia. Thalassemia major can lead to life-threatening problems such as heart failure, bone problems, and liver and spleen damage.
A mutation in the HBB gene causes Thalassemia in kids. This gene provides instructions for making a protein called beta-globin. Beta globin is a component of hemoglobin, the protein in red blood cells that carries oxygen from the lungs to the rest of the body. Thalassemia occurs when there is a defect in the HBB gene, leading to reduced or absent production of beta-globin. This, in turn, leads to reduced or absent production of hemoglobin, resulting in anemia.
The symptoms of Thalassemia in kids can vary depending on the type and severity of the condition. In some cases, people with Thalassemia minor may have mild anemia. Thalassemia minor usually doesn't cause any symptoms.
The symptoms of Thalassemia major can be severe. They may include:
People with thalassemia major often feel tired because of anemia.
Thalassemia can cause a decrease in hemoglobin, which can lead to pale skin.
Anemia can cause shortness of breath, especially with activity.
Jaundice is a common symptom of Thalassemia. It occurs when there is a build-up of bilirubin in the blood.
Thalassemia can cause the spleen and liver to become enlarged.
Thalassemia can cause delays in growth and development in children.
Thalassemia can weaken the immune system and make people more susceptible to infections.
Thalassemia can cause the bones to become brittle and deformities to develop.
If you or your child has any of these symptoms, it is important to see a doctor. Thalassemia is diagnosed with a blood test. A doctor may also order x-rays or other imaging tests to look for signs of bone deformities or an enlarged spleen.
There is no cure for Thalassemia in kids, but treatment can help manage the condition and reduce symptoms. Treatment options include:
People with Thalassemia may need regular blood transfusions to maintain hemoglobin levels. Through this treatment, patients can lead relatively normal lives.
This treatment helps remove excess iron from the body. It is often used in conjunction with blood transfusions. Under this therapy, a person takes medication that binds to iron in the blood and is then excreted from the body.
A bone marrow transplant may be an option for people with severe Thalassemia. This treatment is risky and is usually only considered when other treatments have failed.
In some cases, surgery may be needed to remove an enlarged spleen or Thalassemia.
Prenatal diagnosis of Thalassemia can be made through blood tests and genetic testing. Treatments can start before birth if a baby is diagnosed with Thalassemia. It may help prevent or lessen the severity of the condition.
There is no known way to prevent Thalassemia. However, if both parents are carriers of the condition, there is a 25 percent chance that their child will develop thalassemia major. Parents carriers of Thalassemia can consult with a genetic counselor to discuss the risks before conceiving a child. It may also be possible to diagnose Thalassemia during pregnancy with blood tests and genetic testing.
Thalassemia in kids can be prevented to some extent if both parents are carriers of the condition, and they can consult with a genetic counselor. Thalassemia can also be diagnosed during pregnancy which will help start the treatment before birth. However, the condition has no complete cure, and the affected person may have to undergo regular blood transfusions and other treatments for their lifetime.
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