Thalassemia

Thalassemia

Thalassemia

Thalassemia is a medical condition that is described as an inherited genetic blood disorder in which abnormal hemoglobin is formed. If both the parents are diagnosed to be the carriers of thalassemia then the children are at high risk of acquiring a serious form of it. Alpha and beta thalassemia are the two major forms. Due to abnormal hemoglobin formation, there will be destruction of red blood cells which leads to anemia.

Causes of Thalassemia:

The hemoglobin is formed by two major proteins called alpha and beta globin. When there is a defect in the gene that produces these proteins, thalassemia occurs. There are two major types of thalassemia, Alpha thalassemia and Beta thalassemia.

Alpha thalassemia is prevalent in people from south East Asia, Middle East, china and Africa. Beta thalassemia is found among people of Mediterranean origin.

Symptoms of Thalassemia:

The symptoms are according to the type of thalassemia acquired,

  • Thalassemia minor does not show any symptoms and it only causes minor anemia.
  • Beta thalassemia is of two serious types, thalassemia major or Cooley’s anemia and thalassemia intermedia.
  • The symptoms of thalassemia major are shown up before the child attains two years and the anemia can be life threatening and requires blood transfusion. The signs include,
  • Tiredness
  • Having poor or no appetite
  • Recurrent infections
  • Skin becoming pale
  • Failure to thrive
  • Distended organs
  • Infection with jaundice, yellowing of the skin and eyes
  • Thalassemia intermedia are not severe as the thalassemia major and it does not need blood transfusion.
  • Alpha thalassemia also occurs in two major forms and they are Hemoglobin H disease and Hydrops fetalis.
  • Hemoglobin H will cause bone problems and there will be overgrowth of cheeks, forehead and jaw.
  • It also causes jaundice, yellow discoloration of skin and eyes.
  • Inflammation of the spleen
  • Malnourishment
  • Hydrops fetalis is a more severe form and it occurs before a child is born. Most of the babies are born still or die immediately after birth.

Treatment:

The major treatment of thalassemia is blood transfusion and taking folate supplements regularly. When the blood transfusion is done on a regular basis, intake of iron tablets must be stopped because it can cause dangerous effects due to the build-up of too much iron in the blood.

Those people who receive more blood transfusions must need a therapy called ‘Chelation therapy’ in order to remove excess iron. Now a day’s bone marrow transplants are becoming more successful and it is done in severe cases of thalassemia mainly in children’s.

Prognosis:

  • A Severe form of thalassemia will lead to early death between the ages of 20-30 yrs. If a regular blood transfusion is done the life span can be increased and the outcome will be good.
  • Milder forms of thalassemia will not cause much complications and it will lessen the lifespan.
  • If you have a family history of thalassemia and planning to have children, you may need a genetic counseling.