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
Q: What are the symptoms of Thalassemia?
Thalassemia minor may not produce any symptoms in some cases. However, symptoms may include:
Bone deformities especially on the face
Shortness of breath
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.
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