How is thalassemia detected?

How is thalassemia detected?

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.

When does thalassemia appear?

The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia.

Can thalassemia show up later in life?

When the disorder develops later during life, a diagnosis of beta thalassemia intermedia is given; individuals may only require blood transfusions on rare, specific instances. Beta thalassemia major, also known as Cooley’s anemia, is the most severe form of beta thalassemia.

What are the signs and symptoms of alpha thalassemia?

Alpha-thalassemia. But you are a carrier of the disease and can pass it on to your children. 2 mutated genes, your thalassemia signs and symptoms will be mild. This condition may be called alpha-thalassemia trait. 3 mutated genes, your signs and symptoms will be moderate to severe. 4 mutated genes. This type is rare.

When do you know if your child has thalassemia?

Thalassemia symptoms appear generally before a child’s second year of age and severe anaemia concerned with this condition can be fatal. Some of the major signs of thalassemia major include: This kind of thalassemia is so serious that it needs frequent blood transfusions.

What’s the difference between thalassemia trait and major?

When the words “trait,” “minor,” “intermedia,” or “major” are used, these words describe how severe the thalassemia is. A person who has thalassemia trait may not have any symptoms at all or may have only mild anemia, while a person with thalassemia major may have severe symptoms and may need regular blood transfusions.

Can a person with thalassemia have heart problems?

Heart problems. Congestive heart failure and abnormal heart rhythms can be associated with severe thalassemia. In most cases, you can’t prevent thalassemia. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance if you want to have children.

What are the chances of getting thalassemia?

Most carriers lead completely normal, healthy lives. A child who inherits two thalassemia trait genes – one from each parent – will have the disease. A child of two carriers has a 25 percent chance of receiving two trait genes and developing the disease, and a 50 percent chance of being a thalassemia trait carrier.

Do you recognize the symptoms of thalassemia?

In addition to the signs and symptoms seen in intermediate thalassemia, people with severe forms of thalassemia may also experience severe anemia, poor appetite, paleness, dark urine, yellow discoloration of skin ( jaundice ), and enlarged liver or heart. [2] [1] [5]

What gene or chromosome is affected by thalassemia?

The genes responsible for thalassemia are present on chromosome 11 and chromosome 16. Any mutation in these genes causes thalassemia. The severity of disease depends upon the number of genes that gets mutated.

Is thalassemia an autoimmune disease?

The thalassemias cause “intrinsic” anemia, meaning the anemia is due to a problem inside the red blood cells. Lupus is an autoimmune disease and causes “extrinsic” anemia, meaning lupus is acting on the red blood cells from the outside and causing them to be destroyed.