Thalassemia Information

There are many different disorders with defective hemoglobin synthesis and, hence, many types of thalassemia. The thalassemias are classified according to which chain of the globin molecule is affected: in a thalassemia, the production of a globin is deficient, while in ß thalassemia the production of ß globin is defective. Thalassemia produces a deficiency of a or ß globin, unlike sickle-cell anemia which produces a specific mutant form of ß globin.

Thalassemia is the name of a group of genetic blood disorders. In thalassemia, the genetic defect results in reduced rate of synthesis of normal globin chains. Thalassemia includes a number of different forms of anemia (red blood cell deficiency). Thalassemia can cause ineffective production of red blood cells, and the destruction of red blood cells. The two main types are called alpha and beta thalassemias, depending on which part of an oxygen-carrying protein (called hemoglobin) is lacking in the red blood cells. It is an inherited disease of the red blood cells. Thalassemia is not a single disorder but a group of related disorders that affect the human body in similar ways. Alpha thalassemia occurs when one or more of the four alpha chain genes fails to function. Beta thalassemias are caused by a mutation in the beta globin chain. The mutated genes must be inherited from both parents to acquire the major form of this disease. Kids who have with different forms of thalassemia have different kinds of health problems resulting from the disorder. The mild form of beta thalassemia produces small red blood cells, with no symptoms. Risk factors include a family history of thalassemia and an ethnic background that has shown susceptibility to the disease.

There are two main types of Alpha thalassemia disease. Alpha thalassemia major is a very serious disease in which severe anemia begins even before birth and survival past the first few hours of life is rare. Many possible combinations of variant genes cause the various types of thalassemia. Thalassemia is always inherited (passed from parents to children). Carriers often have no signs of illness other than mild anemia, but they can pass the variant genes on to their children. Most children with thalassemia major appear healthy at birth, but during the first year or two of life they become pale, listless and fussy, and have a poor appetite. They grow slowly and often develop jaundice. The most severe form of alpha thalassemia, which affects mainly individuals of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn death. Children with thalassemia intermedia may develop some of the same complications, although in most cases, the course of the disease is mild for the first two decades of life. The most common treatment for all major forms of thalassemia is red blood cell transfusions. These transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that the patient's body needs.

Causes of Thalassemia

The common causes and risk factor's of Thalassemia include the following:

• Thalassemia is caused by variant or missing genes that affect how the body makes hemoglobin.
• A family history of thalassemia.
• Mutations in the alpha chain of the hemoglobin molecule.
• Heredity.
• Mutation in the beta globin chain.

Symptoms of Thalassemia

Some sign and symptoms related to Thalassemia are as follows:

• Fatigue.
• Bone deformities in the face.
• Paleness.
• Spleen enlargement.
• Pale skin or jaundice (yellowing of the skin).
• Shortness of breath.
• Headaches.
• Protruding abdomen, with enlarged spleen and liver.
• Dark urine.

Treatment of Thalassemia

Here is list of the methods for treating Thalassemia :

• The most common treatment for all major forms of thalassemia is red blood cell transfusions.
• The use of antibiotics has improved the outlook for children with thalassemia major.
• Thalassemia has been cured using bone marrow transplants. However, this form of treatment is possible only for a small minority of patients who have a suitable bone marrow donor, and the transplant procedure is still risky and can result in death.
• Daily doses of folic acid.
• Patients who receive significant numbers of blood transfusions require treatment to remove iron from the body (chelation therapy).
• Surgery may be needed if body organs, such as the spleen or gall bladder, are affected.