Between five and seven million people in the world have thalassemia, a blood disorder that can affect nearly every organ in the body. The severity of thalassemia depends on the type of mutation an individual has. There is no one-size-fits-all approach to treating thalassemia, as each person’s symptoms will be different. However, there are some general treatments that are used to help manage the condition. This article will outline ten common symptoms of thalassemia and the corresponding treatments.
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What is Thalassemia?
Thalassemia is a blood disorder that is passed down through families (inherited). The most common type of thalassemia happens when there is a problem with the gene that makes beta-globin. Globins are proteins that help make hemoglobin. People with thalassemia can have too little hemoglobin and not enough healthy red blood cells. This can cause anemia. Anemia can make you feel tired and weak. It can also cause problems with growth and development in children.
We have are two types of thalassemia: alpha thalassemia and beta-thalassemia major. Alpha thalassemia happens when there is a problem with the gene that makes alpha-globin. Beta thalassemia happens when there is a problem with the gene that makes beta-globin. There are also two other types of thalassemia: delta beta-thalassemia and hemoglobin H disease. Delta beta-thalassemia happens when there is a problem with both the genes that make alpha-globin and beta-globin. Hemoglobin H disease happens when there is a problem with all three genes that make globin.
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Symptoms of Thalassemia
The symptoms of thalassemia can range from mild to severe. The severity of the symptoms depends on the type of thalassemia an individual has. Some people with thalassemia may not have any symptoms. Others may experience a variety of symptoms, including:
Anemia: This is the most common symptom of thalassemia. Anemia can cause fatigue, pale skin, shortness of breath, and an irregular heartbeat.
Bone deformities: Thalassemia can cause the bones to become thin and fragile. This can lead to deformities such as a crooked nose or an enlarged spleen.
Enlarged spleen: The spleen is an organ in the body that helps to filter the blood. An enlarged spleen can cause a feeling of fullness or pain in the abdomen.
Jaundice: This is a yellowing of the skin and eyes. It is caused by an accumulation of bilirubin in the body. Bilirubin is a yellow pigment that is formed when the liver breaks down red blood cells.
Gallstones: Gallstones are hard deposits that can form in the gallbladder. They are made up of cholesterol, bilirubin, and calcium.
Heart problems: Thalassemia can cause enlargement of the heart or irregular heartbeats. This can lead to heart failure.
Liver problems: Thalassemia can cause an enlarged liver or liver damage. Liver damage can lead to jaundice, fatigue, and weakness.
Pregnancy complications: Thalassemia can cause problems with pregnancy such as premature birth, low birth weight, and stillbirth.
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Treatments for Thalassemia
There is no cure for thalassemia. Treatment focuses on managing the symptoms and preventing complications. Treatment options include:
Blood transfusions: This is the most common treatment for thalassemia. Blood transfusions can help to increase the hemoglobin level in the blood and improve the symptoms of anemia.
Iron chelation therapy: This treatment helps to remove excess iron from the body. Iron can build up in the body as a result of frequent blood transfusions. Iron chelation therapy can help to prevent organ damage from iron overload.
Folic acid supplements: Folic acid is a vitamin that helps to produce red blood cells. Folic acid supplements can help to prevent anemia and other complications of thalassemia.
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Prevention of Thalassemia
Thalassemia is an inherited blood disorder that can cause severe anemia. The disorder is caused by mutations in the genes that produce hemoglobin, the protein in red blood cells that carries oxygen. There are two main types of thalassemia, alpha, and beta. Alpha thalassemia occurs when one or more of the four alpha-globin genes are missing or mutated. Beta thalassemia occurs when there is a mutation in the beta-globin gene.
Severe thalassemia can lead to a variety of health problems, including fatigue, pale skin, dark urine, and shortness of breath. In severe cases, thalassemia can cause heart failure and death. There is no cure for thalassemia, but treatments are available to manage the symptoms and complications. One of the most important things you can do to prevent thalassemia is to get tested for the disorder if you have family members with thalassemia.
A simple blood test can tell you if you are a carrier of the disorder. If you are a carrier, you can take steps to prevent passing the disorder on to your children. There are also some lifestyle changes you can make to reduce your risk of developing thalassemia.
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How to cope with Thalassemia
There is no cure for thalassemia. However, treatment can help to manage the symptoms and prevent complications. Couples who are planning to have children may be able to reduce the risk of having a child with thalassemia through genetic counseling and testing. Genetic counseling can help couples understand the risks of having a child with thalassemia.
Genetic testing can help to identify couples who are at risk of having a child with thalassemia. Couples who are at risk may be able to have a prenatal diagnosis or in vitro fertilization with a preimplantation genetic diagnosis. Prenatal diagnosis can help couples know if their fetus has thalassemia. In vitro fertilization with a preimplantation genetic diagnosis can help couples have a baby that does not have thalassemia.
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Conclusion
Thalassemia is a hereditary blood disorder that is caused by abnormal hemoglobin. Thalassemia can cause anemia, fatigue, weakness, and other complications. There is no cure for thalassemia. Treatment focuses on managing the symptoms and preventing complications. Couples who are planning to have children may be able to reduce the risk of having a child with thalassemia through genetic counseling and testing.
Genetic counseling can help couples understand the risks of having a child with thalassemia. Genetic testing can help to identify couples who are at risk of having a child with thalassemia. Couples who are at risk may be able to have a prenatal diagnosis or in vitro fertilization with a preimplantation genetic diagnosis. Prenatal diagnosis can help couples know if their fetus has thalassemia.
In vitro fertilization with the preimplantation genetic diagnosis can help couples have a baby that does not have thalassemia. Thalassemia is a serious condition, but treatment can help people manage the symptoms and prevent complications. If you have thalassemia, talk to your doctor about the best treatment options for you.
