People with moderate and severe forms of thalassemia usually find out about their condition in childhood, since they have symptoms of severe anemia early in life. People with less severe forms of thalassemia may only find out because they are having symptoms of anemia, or maybe because a doctor finds anemia on a routine blood test or a test done for another reason.
Because thalassemias are inherited, the condition sometimes runs in families. Some people find out about their thalassemia because they have relatives with a similar condition. People who have family members from certain parts of the world have a higher risk for having thalassemia.
Traits for thalassemia are more common in people from Mediterranean countries, like Greece and Turkey, and in people from Asia, Africa, and the Middle East. If you have anemia and you also have family members from these areas, your doctor might test your blood further to find out if you have thalassemia. Because thalassemia is passed from parents to children, it is very hard to prevent. Skip directly to site content Skip directly to page options Skip directly to A-Z link.
Section Navigation. Facebook Twitter LinkedIn Syndicate. What is Thalassemia? Four faulty genes : Alpha thalassemia major is the most severe form of alpha thalassemia. A fetus with four mutated genes cannot produce normal hemoglobin and is unlikely to survive, even with blood transfusions.
We need two globin genes to make beta-globin chains, one from each parent. If one or both genes are faulty, beta thalassemia will occur.
Two faulty genes : There may be moderate or severe symptoms. This is known as thalassemia major. Beta thalassemia is more common among people of Mediterranean ancestry. Iron overload raises the risk of hepatitis , swollen liver , fibrosis scarring in the liver , and cirrhosis , or progressive liver damage due to scarring.
The endocrine glands produce hormones. The pituitary gland is particularly sensitive to iron overload. Damage may lead to delayed puberty and restricted growth. Later, there may be a higher risk of developing diabetes and either an underactive or overactive thyroid gland. Iron overload also increases the risk of arrhythmias , or abnormal heart rhythms, and congestive heart failure.
It is important to have the exact blood type match to prevent this kind of problem. The spleen recycles red blood cells. In thalassemia, the red blood cells may have an abnormal shape, making it harder for the spleen to recycle them. The cells accumulate in the spleen, making it grow.
An enlarged spleen can become overactive. It can start to destroy the healthy blood cells the patient receives during transfusions.
Sometimes, a patient may need a splenectomy, or surgical removal of the spleen. This is now less common, because removing the spleen can lead to other complications. Removing the spleen leads to a higher chance of infection, and regular transfusions increase the risk of contracting a blood-borne disease.
In some cases, the bone marrow expands, deforming the bone around it, especially the bones of the skull and face. The bone can become brittle, increasing the risk of fracture. Depending on the type of thalassemia, constant medical care may be necessary to manage the condition effectively. Those receiving transfusions must be sure to follow their transfusion and chelation schedule.
Some foods, such as spinach or iron-enriched cereals, may have to be avoided, to prevent excessive iron buildup. Patients should discuss dietary and exercise options with their doctor. The Centers for Disease Control and Prevention CDC urge people with thalassemia to keep their vaccinations up to date, to prevent illness.
This is especially important for those who receive transfusions, as they have a higher risk of contracting hepatitis A or B. Anyone considering pregnancy should first seek genetic counseling, especially if both partners have or may have thalassemia.
During pregnancy, a woman with thalassemia may have a higher risk of cardiomyopathy and diabetes. There may be fetal growth restriction, too. The mother should be assessed by a cardiologist or hematologist before and during pregnancy, to minimize problems, especially if she has thalassemia beta minor.
During delivery, continuous fetal monitoring may be recommended. A person with the thalassemia trait has a normal life expectancy. Thalassemia minor occurs if you receive the faulty gene from only one parent. People with this form of the disorder are carriers of the disease.
Most of the time, they do not have symptoms. The most severe form of alpha thalassemia major causes stillbirth death of the unborn baby during birth or the late stages of pregnancy. Children born with beta thalassemia major Cooley anemia are normal at birth, but develop severe anemia during the first year of life. People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.
Treatment for thalassemia major often involves regular blood transfusions and folate supplements. If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful. People who receive a lot of blood transfusions need a treatment called chelation therapy. This is done to remove excess iron from the body. Severe thalassemia can cause early death between ages 20 and 30 due to heart failure. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome.
You may want to seek genetic counseling if you have a family history of the condition and are thinking of having children. Untreated, thalassemia major leads to heart failure and liver problems. It also makes a person more likely to develop infections. Blood transfusions can help control some symptoms, but carry a risk of side effects from too much iron.
Cappellini MD. The thalassemias. Goldman-Cecil Medicine. Philadelphia, PA: Elsevier; chap
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