Thalassemia is a group of inherited hematologic disorders that occurs when the body does not have enough hemoglobin, an essential element of the red blood cells. Since there is a low level of hemoglobin, the red blood cells are unable to function optimally and they easily die out. This then results to decrease in the red blood cells present in the bloodstream.

When there is a shortage in the number of healthy red blood cells, the distribution of oxygen to the body is affected. If there is not enough oxygen being delivered to the rest of the cells in the body, the concerned person becomes weak and unwell. This eventually ends up in a condition referred to as anemia. Individuals who are afflicted with thalassemia usually have some form of anemia in their systems.

The estimated annual incidence for this condition has been set at 1 per 100,000 individuals throughout the world, with a higher incidence in the Asian/Mediterranean region.



Thalassemia takes place when the productions of either one of the two proteins (alpha globin and beta globin) that compose hemoglobin are hindered by a defective gene. Based on these two proteins, there are two principal types of thalassemia: alpha thalassemia and beta thalassemia.

Both alpha and beta thalassemias have subtypes, and they always include two forms: thalassemia major and thalassemia minor. For a person to develop thalassemia major, he must inherit the defective gene from both parents; while only one defective gene is needed in order to have thalassemia minor.

The risk factors for this hematologic disorder are family history and the following ethnicities: Mediterranean, Asian or Afro-American.


Signs and Symptoms

People who have thalassemia minor need not manifest the symptoms, but can only be carriers instead. However, they can also have a mild form of anemia.

Beta thalassemia intermedia are a less serious form of beta thalassemia. Affected individuals also manifest signs of anemia, but not the severe kind.

Beta thalassemia major, also known as Cooley’s anemia, do not exhibit signs and symptoms at the moment of birth or during the neonatal period. Instead, it develops during the first or second year of life. Aside from the usual anemia, the following signs and symptoms may appear:

  • Frequent incidence of infections;
  • Pallor or jaundice;
  • Poor appetite or failure to thrive;
  • Enlarged internal organs, especially the spleen; and
  • Easy fatigability.

Alpha thalassemia, as with the beta type, also has two serious forms. Hemoglobin H disease exhibits the same classic signs and symptoms as beta thalassemia, but it also involves issues with the formation of the child’s bones. There can be deformities in the bones of the face, especially on the forehead, the jaws and the cheeks. On the other hand, hydropsfetalis is an exceedingly serious form of alpha thalassemia, wherein the affected individuals can be stillborn or they die immediately after birth.



Treatment for thalassemia is largely case-dependent. Generally, the anemia is addressed first, in an attempt to correct the undernourishment that is evident in the affected child. Treatment for this condition usually involve blood transfusions (whether whole or just some components), bone marrow transplants (to promote production of normal hemoglobin and red blood cells), medications and vita-mineral supplementations, and surgery.


Disability Tax Credits for Thalassemia

If you know someone who has been born with thalassemia, it would really be nice if you could inform them of the benefits they could gain from filing disability claim from the Canadian Revenue Agency. The child with thalassemia can be eligible for a disability savings plan that can help set him up for a life with disability. Make the life of another a little bit easier, call on HandyTax to help you with the task.