What is Thalassemia? Thalassemia is an inherited genetic blood disorder that affects the normal production of hemoglobin – the protein in red blood cells that carries oxygen throughout the body.
The most common form is Beta-Thalassemia, which is caused by mutations in the HBB (Hemoglobin Beta gene). This gene is responsible for producing the beta chain of hemoglobin.
How is Thalassemia inherited? Thalassemia is inherited in an autosomal recessive manner, which means:
Types of Thalassemia
Main Symptoms Symptoms vary depending on the form of the disease and may include:
How is the genetic test (HBB) performed? The Thalassemia test is a precise molecular analysis that in our laboratory is performed using only a blood sample:
Who should take this test? Testing is recommended for:
Yes, because you may be a carrier without having symptoms and could pass it on to your child.
The mild form usually does not, while the severe form requires ongoing treatment.
No. They are different conditions, although both can cause anemia.
In most cases, it is managed, while in some rare cases it may be treated with a bone marrow transplant.
The doctor may recommend additional tests such as a complete blood count or hemoglobin electrophoresis.
Yes, it can be performed at any age.
Yes, especially if both parents are carriers – genetic counseling is recommended.
Yes, all results are handled with complete confidentiality.
A consultation with a doctor or genetics specialist is recommended.
Genetic tests are highly accurate, but the results should be interpreted by specialists.
Usually not, but it is important for family planning.
Yes, with proper monitoring and treatment, many patients live active lives.
Not always – it depends on the genetic status of both parents.
It is usually performed once, as DNA does not change.
