How is genetic testing done for thalassemia?

To check for it, all you need is a blood test. Your test results can help you make choices about having children. If you test positive, your partner should be tested too. You can have a child with the disease even if you don’t have signs of it.

What are the test for thalassemia?

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.

Can thalassemia be inherited?

Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells.

What type of genetic disorder is thalassemia?

Thalassemia is an inherited autosomal recessive disease resulting from mutations in the α- and β-globin gene clusters on chromosome 16 and chromosome 11, respectively. It is characterized by the absence or reduced synthesis of globin chains of hemoglobin and includes two main types, α- and β- thalassemia (1, 2).

How do I prove I have thalassemia?

Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests.

1. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood.
2. Hemoglobin tests measure the types of hemoglobin in a blood sample.

What is the genetic change that causes thalassemia?

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Can thalassemia be diagnosed in adulthood?

It is only thalassemia minor/trait which may be diagnosed in adulthood and does not carry a great clinical significance being asymptomatic in majority of individuals.

What is the life expectancy of someone with thalassemia?

Persons with the thalassemia trait have a normal life expectancy. Persons with beta thalassemia major often die from cardiac complications of iron overload by 30 years of age.

What gender is thalassemia most common in?

You are at risk for thalassemia if you have a family history of it. Thalassemia can affect both men and women. Certain ethnic groups are at greater risk: Alpha thalassemia most often affects people who are of Southeast Asian, Indian, Chinese, or Filipino descent.