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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.

Tackling iron overload in thalassemia

There are various forms of medication used to combat this, so far with mixed success.

Looking for alternatives to blood transfusion in thalassemia Major

To circumvent blood transfusion, bone marrow transplants have been used, occasionally (but not always) with success. The best chance is produced by the availability of a matching donor, especially if it is a sibling. Not all siblings will match.

Gene therapy and Thalassemia

Research is still going on into the possibility of gene replacement therapy in thalassemia. In September 2010, the science journal Nature published a report of a breakthrough in this regard. This was a case report of a teenager who had Thalassemia major and who had been on monthly blood transfusion since the age of three. At 15 he had stem cells extracted from his bone marrow and these cells underwent the very complex process of introducing a normal gene using a lentoviral vector. The modified cells were then transplanted back into his body. A year after the transplant he stopped requiring transfusions with his blood count remaining stable. At the time of publishing the report he had been two years without requiring a transfusion. This was the first success of its kind. Let’s not get carried away. Huge hurdles remain to perfect the technology but this offers real promise and it is, potentially, a pivotal breakthrough in the search for a cure.

Pregnancy for a Thalassemia Major patient

For a young woman with Thalassemia Major, pregnancy is a formidable proposition. The general health of these girls means that they would have difficulty conceiving and the wisest counsel for most of them would be to avoid pregnancy. This is based on the fact that their already compromised vital organs (especially the heart) may fail completely under the added strain of pregnancy. There have only been a handful of reported cases of successful pregnancies in girls with Thalassemia Major.

Does the above imply that most Thalassemia-affected prenatal patients will only be carriers?

Yes. As mentioned earlier, Thalassemia minor is a condition compatible with good general health. However, in pregnancy, there is a tendency to suffer anemia and, if the carrier status was undiagnosed until then, the anemia may trigger the definitive diagnostic tests which will confirm the diagnosis for the first time.

Treatment for anemia in Thalassemia minor

To some degree, the anemia treatment is quite similar to everybody else’s. While in Thalassemia major, the administration of iron supplements is absolutely contraindicated, in Thalassemia minor, iron may be given. This is because these individuals rarely need transfusions and therefore the risk of iron overload is minimal or non-existent. However, as a precaution, many experts advise a test to check the levels of iron reserves in the body.

Injectable Iron in Thalassemia Minor

Iron by injection cannot be used in Thalassemia minor. If the woman is completely unable to tolerate all forms of oral iron supplements, other ways of supplying her with iron - which may be dietary - have to be sought, if definitely required.

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