Thalassemia is a genetic blood disorder which leads to abnormal production of haemoglobin and red blood cells. The red blood cells in our bodies are responsible for the transportation of oxygen throughout the body. The red blood cells contain a protein molecule known as, Haemoglobin. The haemoglobin present in the red blood cells carries oxygen from the lungs and circulate it rest of our body. Haemoglobin also gives red colour to blood cells, that is why, they are known as red blood cells. Thalassemia disease destroys the large amount of healthy red blood cells in your bodies, which causes the shortage of oxygen in the body. Thalassemia may also give birth to anaemia, which is another life threatening disorder. There are two main types of thalasseima- alpha thalassemia and beta thalassemia.
Causes of Thalassemia
Since thalassemia is an inherited disorder there are high chances that one or both of the parents are carrying a gene that causes thalassemia. The defect or alteration in one of the genes, which is responsible for the production of haemoglobin, can lead to thalassemia. If, both mother and father are carriers of thalassemia, the chances of developing this disease by a child increase significantly. At present there are more than 6 million cases of thalassemia in India.
The symptoms of thalassemia are visible before a child is two years old. The symptoms of thalassemia are somewhat same as anemia.
Diagnosis of Thalassemia
- Colourless skin
- Restricted growth
- Numbness in hands and feet
- Lack of appetite
- Enlarged organs
Initially, a doctor will do a thorough physical examination, which may include checking pulse and blood pressure. After that a doctor will order a diagnostic test. The diagnosis for thalassemia may include:
These tests will help in measuring the amount of haemoglobin, shape of blood cells, checking the deficiency of iron, and reveal if parents are its carrier or not.
The type of treatment for thalassemia depends upon the severity of the condition. Some treatments of thalassemia are:
Blood transfusion- It is the process of transferring healthy blood or blood plasma into a vein or an artery, to revive the hemoglobin and red blood cell level in the body. Blood transfusion is repeated every four months or depending upon the patient.
Bone marrow transplant- When a bone marrow of a person is not able to function properly it results in the lack of production of essential blood cells needed by the body. Therefore, a bone marrow transplant is, done so that body can continue its function to produce healthy blood cells. The bone marrow transplant is a medical procedure done to replace the damaged bone marrow with a healthy bone marrow.