The main cause of the disease is genetic mutations affecting hemoglobin production. Hemoglobin is made up of two parts: alpha and beta globin. Patients with thalassemia have either decreased production of these proteins or the formation of defective forms. The disease is passed from parents to children and the risk of developing it depends on heredity.

Patients may experience difficulty breathing due to lack of oxygen. In children with severe disease, development may be delayed. Reduced immunity can make the body more vulnerable to infections.

Diagnosis at MDI Clinic

The doctor performs a general blood test and measures the levels of hemoglobin, red blood cells, and other blood parameters. Patients with the disease usually have reduced hemoglobin and red blood cell counts, which can cause anemia.

Electrophoresis can determine the type and amount of abnormal forms of hemoglobin in the blood. Certain hemoglobin abnormalities may be found in patients with the disease.

Genetic testing can detect the presence of specific mutations associated with the disease. This is especially important when planning a pregnancy and assessing the risk of transmitting the disease to offspring. In rare cases, a bone marrow study may be required to assess the extent of bone marrow damage from thalassemia.

If severe disease is suspected in the fetus during pregnancy, amniotic fluid studies or chorionic biopsies are performed for diagnosis.

If a parent has a disease or genetic risk, family screening is recommended to assess the likelihood of passing the disease to offspring.