Beta-Thalassemia Test

This test is used for carrier testing, prenatal diagnosis, and prognosis to predict clinical severity for proper treatment of ß-thalassemia.

ß-thalassemia (Cooley's anemia) is an autosomal recessive hemoglobinopathy caused by mutations in the ß-globin (HBB) gene Unbalanced production of a- and ß-globin molecules impairs erythropoiesis, leading to microcytic hypochromic anemia. Severely affected individuals (thalassemia major, beta zero) exhibits severe anemia, poor growth and hepatosplenomegaly in early life, and require regular transfusions and treatment to extend lifespan. Mildly affected patients (thalassemia intermedia, beta plus) have a later onset, require less aggressive treatment, but may experience iron overload and perhaps cirrhosis. This disorder is common in Mediterranean, Indian, and Southeast Asian populations. ß-thalassemia carriers (thalassemia minor) are not expected to have adverse health effects beyond mild anemia. When both parents are carriers of a ß-globin gene defect (S, C, E, ß-thalassemia, or other ß-hemoglobinopathies), there is a 25% chance with each pregnancy for disease to occur.

The coinheritance of ß-thalassemia mutations with either alpha-thalassemia or sickle cell anemia mutations is not uncommon. Since disease severity is related to such complex genotypes, testing for these two related disorders may be considered.

A significant deviation from the normal range may require further evaluation by your physician.

Private MD Lab Services offers the following test for diagnosing ß-thalassemia: