Thalassemia is a genetically inherited disorder which affects the Hemoglobin and the red blood cell count in an individual. Since, it is a genetically inherited disorder it cannot be prevented completely, but awareness among the general population about the same can help in reducing the incidence of the disease.
What is thalassaemia ?
In scientific terms Thalassemia is a genetically transmitted/inherited disorder where in the hemoglobin proteins are defective, thereby affecting the red blood cells and the blood. Because of this, the patients suffering from Thalassemia develop Anemia and other associated symptoms. Seen in the children of 1-2 years of age (the age at which it is usually diagnosed). Affected individual’s life can be affected depending on the type of Thalassemia and the severity of the same.
What are the types of thalassaemia ?
Thalassemia can be classified mainly into two types, depending upon the type of globin protein which is affected or mutated.
- Alpha Thalassemia: Alpha globin protein is absent or mutated
- Beta Thalassemia: Beta globin protein is absent or mutated
Another rare form is Delta Thalassemia which has an elevated level of fetal hemoglobin.
Depending upon the type of inheritance Thalassemia is also classified as follows.
- Thalassemia Major: When the Thalassemia gene is inherited form both the parents
- Thalassemia Minor: When the Thalassemia gene is inherited from one parent.
Both the Alpha and Beta types can have Major and Minor inheritance.
Thalassemia can also be classified as mild, moderate and severe depending on the symptoms.
What are the symptoms of thalassaemia ?
Thalassemia can present from mild anemia to severe anemia or even stillbirth (a newborn who is born still due to Thalassemia . Few other common symptoms are mentioned below.
- Fatigue
- Weakness
- Affected bones of the face
- Breathlessness
- Jaundice
- Retarded or abnormal growth
You can ask your physician to brief you about the signs and symptoms of Thalassemia in detail.
How is thalassaemia diagnosed ?
Thalassemia can be diagnosed by a Complete Blood Count (CBC), Hemoglobin electrophoresis, examination of red blood cells microscopically (red blood cells are smaller in thalassemia patients) and a Mutation analysis test.
Is thalassaemia treatable ?
It is a genetically transmitted disease which can be treated by iron supplements, folate supplements, blood transfusions and bone marrow transplant. The treatment depends on the type of Thalassemia and its severity. Severe cases of thalassemia can also cause early death.
Why awareness about thalassaemia is important ?
Thalassemia is an inherited disorder hence not much can be done to prevent the disease but one can be aware of the disease and a genetic counselling before planning a child can help save a life. Thalassemic counselling can be done prior to marriage and before planning a child as preventive measure in the society. Awareness can help in supporting patients who are affected with Thalassemia and the to encourage them to seek medical help to reduce the global incidence and the morbidity and mortality associated with Thalassemia.
Disclaimer: The content provided here is meant for general informational purposes only and hence SHOULD NOT be relied upon as a substitute for sound professional medical advice, care or evaluation by a qualified doctor/physician or other relevantly qualified healthcare provider.
