Causes of thalassemia

Causes of thalassemia

Thalassemia is genetic - full stop. It is caused by mutations in the genes that instruct the body to build haemoglobin. Haemoglobin is made of two alpha and two beta chains; faulty alpha-globin genes cause alpha thalassemia, and faulty beta-globin genes cause beta thalassemia (the more common type in India).

How it is inherited. Every child receives one copy of each globin gene from each parent.

• If one parent is a carrier, each child has a 50% chance of being a carrier - healthy, like the parent.
• If both parents are carriers of the same type, each pregnancy carries a 25% chance of thalassemia major (both genes faulty), a 50% chance of carrier status, and a 25% chance of a completely unaffected child.
• Carriers usually have no idea they carry the gene until a blood test or an affected child reveals it. This is why carrier screening matters even in perfectly healthy people.

What does NOT cause thalassemia: poor diet, iron deficiency, infections, blood donation, or anything a mother did or ate during pregnancy. It cannot be caught or spread. Iron deficiency anaemia can look similar on a basic blood count but is a completely different condition - which is why self-treating any anaemia with iron is risky until the cause is tested.

Why it is common in India: carrier states gave some historical protection against malaria, so the genes persist in malaria-endemic regions and certain communities. Consanguineous (within-family) marriages raise the chance of two carriers pairing.

Remember: you are born with thalassemia genes or you are not - nothing causes it later in life, and screening tells you your status.

Ayurvedic view (interpretive)

Classical texts attribute congenital disorders to parental seed factors - conceptually close to heredity, but interpretive. The proven cause is genetic, and diagnosis is by blood test.