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Thalassemia

In Thalassemia, the body creates an unusual formation of hemoglobin (protein in red blood cells that carries oxygen). Thalassemia is a blood disorder passed down through families (inherited). The disorder results in excessive destruction of red blood cells, which also leads to anemia. Anemia is a disorder in which your body does not have normal enough, healthy red blood cells.

This disease is inherited, meaning that at least one of your parents must be a carrier of the disease. It caused due to two reasons; either a genetic mutation or a deletion of certain key genes.

The two main types of thalassemia are alpha thalassemia and beta thalassemia. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are the ones affected.

Both of the above-mentioned types of thalassemia has various distinguished types. The particular type that you have will determine your prognosis and the severity of your symptoms also.

How does it happen?

Thalassemia occurs when there is an abnormality or mutation in one of the genes involved in hemoglobin production. This genetic defect is inherited from parents.

When one of the parents is a carrier for thalassemia, the child may develop the disease called “thalassemia minor.” And when this occurs, the child will probably not have symptoms, but he/she will be a carrier of the disease. Some people with thalassemia minor develop minor symptoms.

In another case where of the both parents carry thalassemia, then the child has 25 % possibility of obtaining this more serious form of the disease known as thalassemia major.

Thalassemia is most common in people from South-East and Central Asia, the Mediterranean, the Middle East, India, and North Africa.

What are the symptoms?

The symptoms of thalassemia depend on which type you have.

Thalassemia minor usually does not cause any symptoms. If symptoms occur, it causes only minor anemia.

Beta thalassemia has two serious forms: thalassemia intermedia and thalassemia major (also called Cooley’s anemia).

The symptoms of thalassemia major (Cooley’s anemia) appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other symptoms include:

  • fussiness
  • paleness
  • frequent infections
  • poor appetite
  • failure to thrive
  • jaundice
  • enlarged organs

This type of thalassemia is usually critical that it needs constant blood transfusions.

Thalassemia intermedia is a less severe form of beta thalassemia. While people with this condition still have anemia, they usually do not need blood transfusions.

Alpha thalassemia also has two severe categories: hydrops details and hemoglobin H disease.

How to confirm?

A simple blood test can confirm it. It will be examined for abnormal hemoglobin and anemia by HPLC or hemoglobin electrophoresis. These tests separate out the different molecules in the red blood cells, allowing the abnormal type to be identified.

As determined by the nature and severity of the thalassemia, it is concluded that a physical examination might also help in the diagnosis. For instance, a severely enlarged spleen might suggest to the doctor that the patient has hemoglobin H disease.

What are available treatments?

The treatment for thalassemia depends on the type and severity of disease involved. Usually, no major treatment required for minor thalassemia. But in the case of major thalassemia treatment can be either definitive or supportive.

Supportive treatment

  • Blood transfusions
  • Iron chelation
  • Medications and supplements
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