Thalassemia Causes Symptoms And Treatment Pdf
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Thalassemia is a blood disorder passed down through families inherited in which the body makes an abnormal form or inadequate amount of hemoglobin.
Everything You Need to Know About Thalassemia
Please understand that our phone lines must be clear for urgent medical care needs. When this changes, we will update this web site. Please know that our vaccine supply is extremely small. 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. Beta thalassemia is caused by damaged or missing genes. Two specific genes are involved. There are several types of this disorder:. 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. If the other parent is not affected, their children will also have this form of the disorder. This type is further divided into:. Many people with this disorder are given iron replacement by mistake. This happens when a lack of iron is believed to cause their anemia.
Too much iron can be harmful. So it is important to get the right diagnosis. You may need to see a blood disorder specialist, called a hematologist. Beta thalassemia is a genetic disease inherited from one or both parents. The only risk factor is having a family history of the disease. Children born with this type will have symptoms early in life that include:.
Without treatment, the spleen, liver, and heart become enlarged. Bones can also become thin, brittle, and deformed. People with this condition will need frequent blood transfusions and may not live a normal lifespan. Iron builds up in the heart and other organs from blood transfusions. This can cause heart failure as early as the teens or early 20s.
Beta thalassemia is most often found in people who are from Greek, Italian, African, or Asian origin. The diagnosis is most often made between 6 and 12 years old. These tests may be able to tell if you are a carrier, and can pass the disorder on to your children:. Complete blood count CBC : This test checks the size, number, and maturity of different blood cells in a set volume of blood.
Hemoglobin electrophoresis with hemoglobin F and A2 quantitation: A lab test that differentiates the types of hemoglobin. All of these studies can be done from a single blood sample. In a pregnant woman, the baby is diagnosed using CVS chorionic villus sampling or amniocentesis.
Thalassemia minima is mild and causes no problems. But you will be a carrier of the disorder. Thalassemia intermedia can cause problems based on the severity of the anemia.
These problems include delayed growth, weak bones, and enlarged spleen. Beta thalassemia major causes major problems and can result in early death. Complications may include delayed growth, bone problems causing facial changes, liver and gall bladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems. If you have beta thalassemia major or intermedia, living with the disorder may be challenging. Work with your healthcare provider to make a treatment plan that includes blood transfusions.
Your plan may also include treatment to remove extra iron from your body iron chelation therapy. You will also have regular blood tests and physical exams. It is important to avoid infections. Wash your hands often and avoid others who are sick. You may also need emotional support.
Talk with your provider. He or she can help you find support. Different people will have different symptoms, based on which type of beta thalassemia is inherited. Health Home Conditions and Diseases.
What causes beta thalassemia? Who is at risk for beta thalassemia? What are the symptoms of beta thalassemia? Different people will have different symptoms, based on which type of the disorder is inherited. Children born with this type will have symptoms early in life that include: Pale skin Fussy Having a poor appetite Having many infections Over time more symptoms will appear, including: Slowed growth Belly abdominal swelling Yellowish skin jaundice Without treatment, the spleen, liver, and heart become enlarged.
Thalassemia minima: This type often causes no symptoms. These tests may be able to tell if you are a carrier, and can pass the disorder on to your children: Complete blood count CBC : This test checks the size, number, and maturity of different blood cells in a set volume of blood.
How is beta thalassemia treated? Your healthcare provider will figure out the best treatment based on: Your age, overall health, and medical history How sick you are How well you can handle certain medicines, procedures, or therapies How long the condition is expected to last Your opinion or preference Treatment may include: Regular blood transfusions Medicines to reduce extra iron from your body called iron chelation therapy Surgery to remove the spleen, if needed Daily folic acid Surgery to remove the gallbladder Regular checks of heart and liver function Genetic tests Bone marrow transplant Note: Do not take any iron supplements.
What are the complications of beta thalassemia? Complications of beta thalassemia vary depending on the type: Thalassemia minima is mild and causes no problems. Living with beta thalassemia If you have beta thalassemia major or intermedia, living with the disorder may be challenging. Key points about beta thalassemia Thalassemia is an inherited blood disorder.
It causes the body to make less hemoglobin. There are several types of beta thalassemia. Treatment of beta thalassemia may include medicines and regular blood transfusions. Work with your healthcare provider to stay healthy and reduce complications of the disease.
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Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. Thalassemia minor is a less serious form of the disorder. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality.
An overview of the causes, symptoms and treatment of this blood disorder caused by a defect in the gene that controls the production of hemoglobin. Thalassemia is a group of blood diseases caused by production of abnormal hemoglobin. Hemoglobin is a protein found in red blood cells that carries oxygen to the body. Thalassemia is an inherited form of anemia. It most commonly affects children of Mediterranean, African and Asian descent.
Causes. The protein hemoglobin transports oxygen around the body in blood cells. Bone marrow uses the iron we get from food to make.
Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. Alpha-thalassemia is particularly common among people of African, Mediterranean, or Southeast Asian ancestry. Symptoms and signs result from anemia, hemolysis, splenomegaly, bone marrow hyperplasia, and, if there have been multiple transfusions, iron overload.
A person with thalassemia will have too few red blood cells and too little hemoglobin, and the red blood cells may be too small. Around , newborns are delivered each year with severe forms of thalassemia. It is most common with Mediterranean, South Asian, and African ancestry. Symptoms will not show until the age of 6 months in most infants with beta thalassemia and some types of alpha thalassemia. This is because neonates have a different type of hemoglobin, called fetal hemoglobin.
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Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in , throughout the world and 1 in 10, people in the European Union.
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