What is Thalassemia?

Thalassemias are a group of inherited anemias.  Anemias result from either a reduced number of red cells or reduced hemoglobin within the red cells. They are caused by genetic mutations that affect the production of alpha or beta globin proteins. The term thalassemia comes from the Greek word “thalassa,” which means sea. In the past, thalassemia was primarily found in countries around the Mediterranean and the Middle East, as well as in the southeast Asia and the western Pacific [1]. Now, as immigrants from areas where mutations were widespread relocate, thalassemia disorders are also found in the Americas and other parts of the world.

Thalassemia is a mixed (heterogeneous) group of disorders found in varied ethnic groups, with a wide range of clinical symptoms (phenotypes) and features, ranging from asymptomatic to life threatening. . Thalassemias are classified according to the globin chain affected or the abnormal hemoglobin (Hb) produced. Hemoglobin, the iron-containing pigment of the red blood cell that carries oxygen from the lungs to the tissues, consists of four globin chains, two alpha (α] and two beta (β)chains. Depending on the number of Alpha (α)-globin gene mutations present in an individual the features vary from small changes in the size of red cells to a severe anemia that presents even before a child is born with stillbirth or death soon after birth.

Very often Thalassemia is discovered through a routine blood test. A person who has only one gene affected for Thalassemia is called a carrier (thalassemia trait or scientifically as heterozygous for thalassemia) and may have slight anemia but usually small red blood cells. Further specific testing can determine whether they carry α-thlassemia, or beta (β)-globin mutations. If two carriers have a child together, the child may have a severe form of thalassemia.

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