©Pregnancy bliss 2008

Pregnancy and Childbirth: The answers
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It is not unusual for a carrier of the defective gene (i.e. a Thalassemia minor individual) not to be aware of his or her status.

 

Occasionally, two individual carriers who are partners could find out for the first time about their status when the woman becomes pregnant and when tell-tale findings in routine blood tests lead to specific diagnostic tests.

 

In many countries, including the UK, the screening for hemoglobinopathies such as Thalassemia is done routinely for all pregnant women.

 

The gender distribution of Thalassemia

Both sexes are affected equally. If the two parents are carriers, the baby will have a one in four chance of ending up with the full-blown condition: that is, Thalassemia major.

 

What are the chances that the baby will be completely unaffected (if both parents are carriers)?

Again, the chance of the offspring being completely unaffected is one in four. This leaves two in four or a 50% chance of the offspring being a carrier.

If such a couple had four children, mathematically, they should expect one completely healthy child, two children who would be relatively healthy but carrying the beta-­Thalassemia gene, and one sick child with the condition Thalassemia major.

Of course, it does not work that way in real life. They could end up with four completely healthy children, four sick children or any mix, depending on the throw of the dice.

Health prospects for a Thalassemia major child

This is a difficult condition to control and treatment is life-­long. In years gone by, these children were lucky to get to the age of ten. Things have improved markedly in the last three decades or so.

 

The mainstay for the majority remains repeated blood transfusion. With this, Thalassemia Major patients commonly make it to their twenties, occasionally beyond.

 

Challenges of frequent blood transfusion

Infection risks in modem blood transfusion have been severely minimized but not eliminated altogether.

 

However, the main problem in this condition is the iron overload which is inevitable with repeated transfusions. Excess iron is deposited in major vital organs - including the heart, liver and pancreas - slowly damaging them.

 

Eventual failure of these organs, especially the heart, leads to death.

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