Molecular diagnosis of thalassemia in Taiwan

Thalassemia is an autosomal recessive disease characterized by absent or decreased synthesis of the globin chain. This disease is very common in Taiwan area. It mainly consists of alpha- and beta-thalassemia. The diagnosis of these entities depends on hemoglobin electrophoresis, mean corpuscular volume (MCV), or mean hemoglobin concentration of red blood cell and excludes the disease of iron deficiency anemia. However, these tests are not reliable. The definite diagnosis is to check the hemoglobin genes directly. In recent years, we have developed several molecular techniques to solve these problems. This review focuses on the techniques which are used recently in Taiwan area.