Thalassemia definition

Thalassemia is an inherited blood disorder that affects the production of hemoglobin and red blood cells. Symptoms include jaundice, chest pain, breathing problems, and more. Various complications can arise, and a person may need lifelong treatment. A person with thalassemia will have too few The impact of thalassemia can range from mild to severe and life threatening. Thalassemia is the most common hereditary hemoglobin disorder, occurring in The symptoms of thalassemia vary depending on the type of thalassemia. In infants with beta thalassemia and some types of alpha thalassemia, After 6 months, “normal” hemoglobin starts replacing the fetal type, and symptoms may begin to appear. These include: • • drowsiness and • chest pain • shortness of breath • rapid heartbeat • delayed growth • dizziness and faintness • greater susceptibility to infection Skeletal deformities may result as the body tries to produce more Iron may accumulate from blood transfusions. Excessive iron can harm the spleen, heart, and liver. People with hemoglobin H, a form of alpha thalassemia, are more likely to develop Untreated, the complications of thalassemia can potentially lead to organ failure. Treatment depends on the type and severity of thalassemia. • Blood transfusions: These can replenish hemoglobin and red blood cell levels. People with thalassemia major will need between eight and 12 transfusions a year. Those with less severe thalassemia will need up to eight transfusions each year or mor...

Thalassemia Trait Also known as:alpha thalassemia trait, beta thalassemia trait, silent thalassemia trait. What is thalassemia trait? Thalassemia is a medical condition in which the body makes less hemoglobin than usual. It causes anemia. There are four genes that contribute to the making of hemoglobin. Problems with these genes can cause thalassemia, but when only one of the four genes is affected, the individual has no symptoms and is known as having thalassemia trait. What causes thalassemia trait? Thalassemia is a genetic disease, and the abnormal genes are passed along from parents to their children. A person can develop thalassemia trait when they receive one of the genes from a parent. What are the symptoms of thalassemia trait? People who have thalassemia trait do not have the symptoms related to thalassemia, such as What are thalassemia trait care options? No treatment is necessary for an individual who has a thalassemia trait. Reviewed by: This page was last updated on: September 29, 2020 03:53 PM Learn more about Alpha Thalassemia Alpha thalassemia is an abnormality in the production of alpha chains which causes the red cells to more easily breakdown. Anemia Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Alpha Thalassemia Silent Carrier People who are alpha thalassemia silent carriers do not have the symptoms related to alpha thalassemia, such as anemia.

Diagnosis Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests. Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes. Prenatal testing Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it might be. Tests used to diagnose thalassemia in fetuses include: • Chorionic villus sampling. Usually done around the 11th week of pregnancy, this test involves removing a tiny piece of the placenta for evaluation. • Amniocentesis. Usually done around the 16th week of pregnancy, this test involves examining a sample of the fluid that surrounds the fetus. Treatment Mild forms of thalassemia trait don't need treatment. For moderate to severe thalassemia, treatments might include: • Frequent blood transfusions. More severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs. • Chelation therapy. This is treatment to remove excess iron from your blood. Iron can build up as a result of regular transfusions. Some people with thalassemia who don't have regular transfusions can also develop excess iron. Removing...

What is alpha thalassemia? Thalassemia (thal-uh-SEE-mee-uh) is a blood disorder that is inherited. This means it is passed down from one or both parents through their genes. When you have thalassemia, your body makes less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. There are 2 main types of thalassemia: alpha and beta. Different genes are affected for each type. Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected. What causes alpha thalassemia? Alpha thalassemia occurs when some or all of the 4 genes that make hemoglobin (the alpha-globin genes) are missing or damaged. There are 4 types of alpha thalassemia: • Alpha thalassemia silent carrier. One gene is missing or damaged, and the other 3 are normal. Blood tests are usually normal. Your red blood cells may be smaller than normal. Being a silent carrier means you don’t have signs of the disease, but you can pass the damaged gene on to your child. This is confirmed by DNA tests. • Alpha thalassemia carrier. Two genes are missing. You may have mild anemia. • Hemoglobin H disease. Three genes are missing. This leaves just 1 working gene. You may have moderate to severe anemia. Symptoms can worsen with fever. They can also get worse if you are exposed to certain medicines, chemicals, or infectious agents. ...

What is beta thalassemia? Thalassemia (thal-uh-SEE-mee-uh) is a blood disorder that is inherited. This means it is passed down from one or both parents through their genes. When you have thalassemia, your body makes less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. There are two main types of thalassemia: alpha and beta. Different genes are affected for each type. Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected. What causes beta thalassemia? Beta thalassemia is caused by damaged or missing genes. Two specific genes are involved. There are several types of this disorder: Beta thalassemia major (Cooley’s anemia). There are two damaged genes. This is the most severe form of this disorder. People with this condition will need frequent blood transfusions. They may not live a normal lifespan. Beta thalassemia minor or thalassemia trait. Only one gene is damaged. This causes less severe anemia. People with this type have a 50% chance of passing the gene to their children. If the other parent is not affected, their children will also have this form of the disorder. This type is further divided into: • Thalassemia minima:There are few or no symptoms. • Thalassemia intermedia:This causes moderate to severe anemia. Many people with this disorder are given iron ...