Thalassemia

Thalassemia is a recessive trait inherited disease of the red blood cells. Thalassemia is the most common, inherited single gene disorder in the world. The more severe form of the disease is thalassemia major, also called Cooley's Anemia. It is a serious disease that requires regular blood transfusions and extensive medical care.

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. It mainly affects people of Mediterranean or Asian ancestry. It usually appears during the first two years of life. Severe thalassemia is treated with blood transfusions and treatment to remove excess iron in the blood.

A person who inherits a thalassemia gene or genes from one parent and normal genes from the other parent is a carrier (thalassemia trait). Carriers often have no signs of illness other than mild anemia, but they can pass the variant genes on to their children. Many possible combinations of variant genes cause the various types of thalassemia.

The two main types of thalassemia, alpha and beta.Alpha thalassemia occurs when one or more of the four genes needed for making the alpha globin chain of hemoglobin are variant or missing. Moderate to severe anemia results when more than two genes are affected.

The most severe form of alpha thalassemia is known as alpha thalassemia major. It can result in miscarriage. Beta thalassemia occurs when one or both of the two genes needed for making the beta globin chain of hemoglobin are variant. The severity of illness depends on whether one or both genes are affected and the nature of the abnormality.

Most individuals with alpha thalassemia have milder forms of the disease, with varying degrees of anemia. The most severe form of alpha thalassemia, which affects mainly individuals of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn death.

Causes of Thalassemia

Common causes of Thalassemia

• Genetic blood disorders(Hemoglobin).
• Anemia(Cooley's anemia).
• Endocrine systems(parathyroid, hypothalamus and pineal).

Symptoms of Thalassemia

Common Symptoms of Thalassemia

• Fatigue.
• Jaundice.
• Abnormal facial bones and poor growth.
• Shortness of breath.
• Bone deformities in the face.
• Weakness.
• Dark urine.

Treatment of Thalassemia

Common Treatment of Thalassemia

• Severe forms of thalassemia are treated by regular blood transfusions. A blood transfusion, given through a needle in a vein, provides blood containing normal red blood cells from healthy donors.
• Iron chelation therapy uses medicine to remove the excess iron that builds up in the body when a person has frequent blood transfusions.
• Folic acid is a B vitamin that helps build red blood cells. People with thalassemia should take folic acid supplements.
• Surgery may be needed if body organs, such as the spleen or gall bladder, are affected.
• Bone marrow or stem cell transplants have been used successfully in some children with severe thalassemia.

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