Symptoms and treatment of Thalassemia

Thalassemia is a kind of genetic haemoglobin disorder. When the haemoglobin molecules are abnormal it does not allow the red blood cells to survive and so it leads to acute anaemia.

There are 2 types of Thalassemia. One is Beta Thalassemia which occurs when the gene for beta globins chains of the molecules are defective. There are basically 2 chains. If one is defective then it is called Thalassemia minor but if both the genes are defective then it is known as Thalassemia major.

Thalassemia major is a very severe disorder and the child can develop the symptoms after 6 to 8 months after birth. There can be enlargement of spleen and liver and also some change it facial bones. One needs red blood cell transfusions to sustain life.

On the other hand, Thalassemia intermedia have both the genes defective but it is less acute and one can see the symptoms only after 2 to 3 years of life. Here, one needs occasional transfusions to sustain life.

Now when is the high risk of having Thalassemia? It mainly occurs in a child if both the parents are carrying it in them. The Thalassemia major is suspected in those children who have reduced haemoglobin at the early age of 6 months and also have enlarged livers. One can perform a blood test in the child and in the parents to be sure about it. There are many doctors who rely on genetic or molecular testing to find the exact mutations and the defect in the genes. In case of Thalassemia intermedia the symptoms become prominent after 2 or 3 years and then similar blood tests are done to find the problem. In case of Thalassemia minor, elevated blood tests can be performed.

Children who are suffering from Thalassemia major are not able to gain weight and look pale. Also there is a lot of irritability. But for Thalassemia intermedia the anaemia is less severe. Thalassemia minor children have no major symptoms as such but one has to be sure by getting a blood test done.

The Thalassemia treatment cost in India depends on what kind of Thalassemia it is. The child who is suffering from Thalassemia major, need almost weekly packed red cell transfusions to survive. They also need an iron therapy to remove the excess irons that accumulates the red cell transfusions in body. But if one can get a matched donor, then they can be saved as well.

There are also some complications when it comes to the treatment. These include endocrine diseases such as diabetes mellitus, growth retardation, thyroid abnormalities and delayed puberty. Bone diseases like osteoporosis soon set in if they are not monitored and treated early. They also have deposition of iron in the heart, which needs special attention and monitoring. There is also a risk of transfusion transmitted infection that can lead to Hepatitis B and C.

One needs to keep these side effects in mind and then do proper course of treatment for the disease as monitoring it regularly is a must.

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