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Knowledge Centre - Care of Thalassaemics - Diagnosis

Detection of Thalassaemia Major

Thalassaemia Major children remain normal till the first  4 to 6 months of life. They start looking pale between the ages of 6 months to 18 months. In a typical situation, when this happens, they are taken to the doctor by the parents. The Doctor after advising a Blood Test, notices a drop in the haemoglobin count.

In the normal course ‘foetal haemoglobin’ is produced during the foetal stage, which enables delivery of oxygen to the various tissues and cells of the body. This foetal hemoglobin starts to deplete after birth and simultaneously ‘adult haemoglobin’ is produced. The foetal haemoglobin depletes completely between 4 to 6 months of age, at which stage ‘adult haemoglobin’ takes over the role of delivery of oxygen.

In the case of Thalassaemia Major children ‘adult haemoglobin’ does not get produced. Therefore, after depletion of foetal haemoglobin, delivery of oxygen does not take place. As a result, children begin to look pale, and are low on energy.

Blood tests carried out on High Performance Liquid Chromatography (HPLC) machine can detect Thalassaemia Major. This can also be established by DNA tests. A further confirmation can be carried out by checking and establishing that both the parents are Thalassaemia Minor.

If not treated

Red Blood Cells are produced in the bone marrow. Unfortunately, in the case of a Thalassaemia Major, the RBCs that are produced die prematurely. The bone marrow realizes that there are no RBCs, and starts producing more RBCs, all of which die prematurely again. This cycle continues even more furiously, resulting in a bone marrow, which is hyperactive.

The Spleen plays the role of removing the dead blood cells. The continuous stream of dead RBCs activates the Spleen on a continuous basis. The Spleen, as a result, becomes hyperactive resulting in its enlargement. In this situation, the children will need an increased level of transfusion.

The children do not grow well, look very pale and become irritable and lethargic. Gradually they show various other signs and symptoms like enlargement of spleen, liver; and prominence of bones particularly the skull bones, causing ‘frontal bossing’ (prominence of anterior bone of the skull, ‘parietal bossing’ (prominence of lateral bone of the skull) and ‘occipital bossing’ (prominence of bones on the back of the skull). There may also be prominence of bones of the cheeks and of the upper jaw, leading to protrusion and malocclusion of the teeth. Children with Thalassaemia major, if left untreated, succumb to the disease by the 3rd to 4th year of life.

Conventional Treatment

The conventional treatment for Thalassaemia Major does not change the genetic status of the patient. The treatment is aimed at managing the disorder, and ensuring normalcy and happiness in the life of the patient. The conventional treatment comprises of:

  1. Blood Transfusion
    Patients of Thalassaemia Major produce Red Blood Cells which die prematurely. The most important aspect of the treatment is delivery of healthy Red Blood Cells, which is effected through regular, lifelong blood transfusions. This ensures that the Haemoglobin level is maintained at a healthy level.
  2. Iron Chelation
    Repeated blood transfusions result in a build-up of undesirable iron. This iron overload can prove fatal if not removed. The process of removal of excess iron is called ‘Iron Chelation’. Blood Transfusion and Iron Chelation form the main pillars in the treatment of Thalassaemia Major.
  3. Periodic Follow-up for Managing Complication
    The nature of the disorder and its treatment puts a lot of pressure on the entire body, calling for constant monitoring. Follow-up has to be carried out for Transfusion Transmitted Diseases, Cardiac complications, Hepatic complications, Bone Diseases, Endocrine complications and Hypersplenism.