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Q: What is a Thalassemia?

Thalassemia is a blood disorder inherited from the parents. If either of the parents is a thalassemia carrier, the genes are passed on to the offspring leading to mild to severe disease.
Normally, haemoglobin present in the red blood cells carries oxygen to the different parts of the body for proper functioning.
In thalassemia, the normal haemoglobin production is hampered and the body either produces less haemoglobin or an abnormal form of it. This results in anaemia and poor oxygen supply to body tissues.

Q: What are the symptoms of Thalassemia?

Thalassemia minor may not produce any symptoms in some cases. However, symptoms may include:
  1. Anaemia
  2. Pale Skin
  3. Dark Urine
  4. Fatigue
  5. Poor Growth
  6. Bone deformities especially on the face
  7. Shortness of breath
  8. Enlarged Spleen
  9. Stillbirth

Complications include heart failure, liver damage, iron overload or fertility issues.

Q What are the causes of Thalassemia?

It is a DNA- mutation of the haemoglobin chain and is a hereditary disorder that runs in a family.
As haemoglobin constitutes of two proteins-alpha and beta, the genetic defect related to these proteins leads to thalassemia alpha and thalassemia beta respectively.
There are various subtypes to these defects that determine the severity of disease. Four genes make up the alpha haemoglobin chain while two make the beta one. Higher the number of mutated genes, the more severe will be the disease.
The severity of disease also, depends on the level of inheritance i.e. if both the parents are carriers of thalassemia, chances of developing a serious form of disease (thalassemia major) is high. On the contrary, if only one of the parents is a carrier, a much milder form of disease (thalassemia minor) may develop.

Q What are the prevention of Thalassemia?

Being a genetic disorder, prevention is not possible for it. However, diet and exercise may help prevent complications associated with it. A low fat, low iron diet and more of Vitamin D and calcium is recommended for people with thalassemia for better management of disease..

Q What are the diagnosis of Thalassemia?

As it is a blood disorder, a blood test is the first step to detect the abnormally shaped haemoglobin. It can be followed up by a genetic DNA mutational analysis or physical examination for enlarged spleen.
A prenatal screening is essential to prevent complications of pregnancy such as stillbirth, severe anaemia, heart problems etc.

Q What are the treatment of Thalassemia?

Mild to moderate anaemia can be treated by folic acid supplements. Severe forms may require repeated blood transfusions or surgery to remove enlarged spleen or a bone marrow transplant.