About Beta Thalassemia Disease

Beta thalassemia, also known as erythroblastic anemia or Mediterranean anemia, is a hereditary blood disorder that belongs to the group of blood disorders called thalassemias. Thalassemias are characterized by an imbalance in the production of hemoglobin, which is the protein that facilitates the transmission of oxygen and carbon dioxide though red blood cells. Beta thalassemia is the most common type of thalassemia and predominantly occurs in people from Southeast Asia, Africa and the Mediterranean. An estimated 2 million people in the U.S. may suffer from some type of thalassemia.

Definition

• There are many different types of thalassemia, depending upon the defect they cause in the hemoglobin. The hemoglobin protein is made up of two each of the alpha and the beta chains. Beta thalassemia occurs when the beta globin chains are either produced inadequately or not at all. A person suffers from beta thalassemia when he inherits one defected beta globin chain from each parent.

Types

• There are two types of beta thalassemia: major and minor. Beta thalassemia minor occurs when only one of the beta chains is defected. This results in low levels of hemoglobin production in the blood. It has the same effects on the body as that of mild anemia caused by an iron deficiency; although the levels of iron in the blood appear normal. Thalassemia major, also called Cooley's anemia, occurs when both beta chains are defected, which results in no production of hemoglobin. Beta thalassemia major is a serious life-threatening condition.

Symptoms

• The symptoms of beta thalassemia are not immediately evident in babies at birth. The anemic symptoms become severe after six months. The main symptom of beta thalassemia major is that it affects normal growth in babies. They may also become irritable and have difficulty feeding. Other symptoms of beta thalassemia include: fever, headaches, fatigue, diarrhea, intestinal problems, paleness, breathlessness, jaundice and an enlarged spleen. In babies, it can also cause deformities of the skull because of stunted growth.

Treatment

• Beta thalassemia minor does not require any treatment, but iron supplements can be taken if the iron deficiency becomes severe. The main treatment method for beta thalassemia major is regular blood transfusions. The side effect of blood transfusion is excess iron in the blood, which can harm the liver and the heart. Patients undergoing blood transfusions also have to undergo therapy that removes excess amounts of iron from the blood. A supplement of folic acid is usually given to control the levels of iron.

Complications

• The disease can cause severe anemia, resulting in heart failure and infection of the liver. People who need to have an enlarged spleen removed are also at a risk of infection. Increased levels of iron due to blood transfusions can cause other conditions, such as hepatitis and cholelithiasis.