Thalassemia also known as Mediterranean anemia is a type of anemia inherited by birth. The body produces abnormal hemoglobin substance which results in destruction of red blood cells causing anemia.Hemoglobin normally has 4 protein counterparts namely 2 alpha globin and 2 beta globin. Two types of thalassemia are recognized. One is alpha thalassemia in which instead of 4 genes only 2 or 3 genes of alpha protein chain are available. This type of disorder creates anemia severely. In alpha variety there is one more type called alpha major thalassemia in which the affected baby will not survive after birth.

In the beta type of thalassemia, there is alteration of the two genes in the beta protein chain of red blood cells.

The intensity of the disease depends on the rate on which the genes are affected or lost in the cell. Thalassemia is seen in both males and females.

This disorder is entirely different from that of regular anemia (iron deficiency) in which the body may not have required amount of iron in blood to prepare hemoglobin. But in thalassemia, the genes are mutated or missing causing abnormal red blood cells.

Causes :

Thalessemia is hereditary and hence this disorder is inherited by birth. It is caused by the defective genes present in the alpha protein or beta globin of red blood cells. It is the genes (chromosomes) that determine the body shape, structure, color and trait. When these genes are missing or altered (mutated) it results in severe anemic condition.

Either one of the parent or both of them may have defective genes which is passed over to the offspring (child) causing mild to severe form of anemia.

Who are at Risk ?

People who have family history of thalassemia affected parents are prone to get this disorder. There is increased chance for the child to get thalassemia sooner or later in life.

People belonging to certain race like Greek, Italian, Southern Asian and Middle Eastern countries are at risk of getting this disorder.

Symptoms :

Some of the common signs of this disorder are severe anemia by birth which is reflected in various forms during the development stage of the child. There may be excess of fatigue and retarded growth of the child. For some children, there may be deformity in the bone structure and shape. In addition, shortness of breath is also observed in some children.

In severe case of major thalassemia (alpha type) the child may die soon after birth or it would cause stillbirth of the child. This is the worst type of thalassemia recognized. In case of cooley’s anemia the child may look normal at birth but will develop symptoms during his first or second year. The color of their skin may turn yellow causing jaundice.

Some children with small sized red blood cells will not show any symptoms at all. They are called “silent carriers” of this disorder.

People born with beta intermediate thalassemia will not show any symptoms till puberty but it may cause delayed puberty for them. They may also have problems in bone development and will have bones that are fragile causing more fractures. Further there may be enlargement of spleen indicating the body’s defense mechanism to fight against infection.

Diagnoses :

The medical practitioner will look at the symptoms for identifying the disorder in childhood. If needed, blood profile is taken for checking the condition of red blood cells.

Treatment :

Blood transfusion and iron chelation therapy are the two methods of treatment available for thalassemia. First the doctor will examine the intensity of the disorder and health condition of the patient. For children who are silent carriers without any symptoms, no treatment is required.

Moderate to severe types of thalassemia are managed with blood transfusion. A needle is inserted into the vein which directly connects into the blood vessel through which healthy blood is injected and the procedure may take up to 4 hours. The patient may need to repeat the transfusion regularly for having healthy blood cells.

People with beta thalassemia major will need transfusion of blood for every 2-3 weeks for staying healthy. For beta thalassemia intermediary blood transfusion is done in case the person falls sick or the anemia gets severe.

Iron chelation therapy is done to remove the extra iron content from the body, because frequent blood transfusion may cause excess of iron in blood. Deferoxamine or deferasirox is given for removing the extra iron from the blood.

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