Thalassemia major, what is it?

Question

Ok, I have researched and researched on Thalassemia major for my sister but I still can't understand what they are trying to say? Basically all I am getting from this is a hereditary blood disorder. I am trying to find out more that way I can at least get a idea of what my sister is fighting.
She is terribly sick and in the hospital right now. She vomits alot, pratically everytime she eats, always seems dehydrated, and is always cold. She gets dizzy, sometimes faints, and has to get regular blood transfusions with that Caleptopen.

If anyone has information that is more indepth I would really appreciate it.

Answer 1

Well, to try to put it into plain English, when her body makes red blood cells, it makes them abnormally. One of the parts of hemoglobin can't be manufactured right.

Hemoglobin is the compound that allows the blood cells to carry oxygen to the body, so you can imagine how it would be a bad thing to have abnormal hemoglobin. When she gets dizzy, it's probably because of her brain not getting enough oxygen.

The other problem is that the abnormal red blood cells don't live very long, so she has a shortage of them.

There are two big treatments. One is regular blood transfusions of normal cells, like she's doing now, and that usually works pretty well for a while, but it will tend to cause iron to build up in the organs over time, which can cause damage, so it's not always a permanent solution.

The other option is a bone marrow transplant. it's a pretty tough treatment, takes a lot of time, and it's pretty miserable for the patient. (It's not so bad for the donor, though, so if it comes to taht and you're a match, consider it.)

I can go into a lot greater detail about it, but it requires a pretty deep understanding of hemoglobin formation and red blood cell maturation. :) Wikipedia has a great page on it if you want that kind of thing.

Answer 2

It seems I have it minor, so have the symptoms less severe and have survived over 60 now as major they can pass away before age of 30. It can also be googled and much found out on there. It is a Mediterranean genetic disorder found among Greeks and Italians. I have recently found out I am Greek and seem to have it minor from information...