Thalassemia

Monday, July 20, 2009
Like Sickle Cell, Thalassemia also causes anemia. Unlike Sickle Cell, which is a problem of hemoglobin quality, Thalassemia is a problem of quantity. In short, there is an underproduction of a globin chain, resulting in the anemic condition. I know...that was alot for me to swallow too!

Whereas Sickle Cell was found historically around on the African continent, the Indian Sub-continent, and parts of northern Middle East, Thalassemia extends all the way through the malaria belt through southeast Asia. If you look at the Berloni Foundation's website, you can see just how extensive Thalassemia's reach is.

Thalassemia protects against malaria, at least in part. Because the cells are degradable, they ironically don't carry malaria as well as healthy, normal blood cells. This is true for both Sickle Cell and Thalassemia.

Here's the kicker for Thalassemia...there are cases where a dominant defective gene caused the disease to take hold in an individual. Those of us familiar with the Autosomal Recessive spectrum will find that surprising, as the very word recessive should protect the offspring of only one carrier, but there are cases, however few, of one deffective gene causing the disease.

Thalassemia could become a major problem in the next 50 years. From the Wiki site on the topic: Countries such as India, Pakistan and Iran are seeing a large increase of thalassemia patients due to lack of genetic counseling and screening. There is growing concern that thalassemia may become a very serious problem in the next 50 years, one that will burden the world's blood bank supplies and the health system in general.

In certain types of the disease, there can be very serious complications, some of those complications even affecting the mother carrying a fetus with the disease. According to the Northern Comprehensive Thalassemia Center, in a fortunate few, a cure can be provided through a bone marrow transplant. However, in many cases, monthly transfusions are needed and the oldest person living with Thalassemia Major is in her 40's. There is still work to be done here.

I started this post thinking that Thalassemia is roughly the same as Sickle Cell Anemia. The research proved me wrong and I am grateful for the information. I hope that we, as fellow autosomal recessive carriers, will see progress made in this disease research.

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