Autosomal dominant beta thel

Hi

Great group by the way!

I've known I've had Minor for a long time and experienced symptoms for a while.  Really interesting reading some posts on here as they sound very familiar!

I've been regularly visiting a consultant who discovered my spleen was slightly larger than it should be. I had a number of scans over the last couple of years and the inflammation is consistent and staying the same.  My blood levels are essentially stable, lower in some area but most in line with minors.

Just started taking folic acid (5mg) and waiting to see what impact that has. 

I have just been informed that I have a rare beta thal trait called autosomal dominant beta thel which apparently causes more symptoms then usual with beta trait. I'm scheduled to see a Dr who looks after patients with inherited red cell problems who will hopefully provide a bit more advice.

Just wondering if anyone else on here has been diagnosed with this?  I will of course update this group with anything useful I find out.

Keep up the great work on the group.

John










 

I am seeing this diagnosed more and more thse days. Years ago, we had a single member who had dominant beta trait, but I have run into  several more on Facebook in the past couple years. It usually should not be considered in the context of thal minor, as it is quite often a more intermedia outcome, with some patients requiring blood transfusions. As far as folic acid, L-methylfolate is far more effective than folic acid. I've been using sublingual B-12 daily, too to help overcome thyroid related fatigue. the enlarged spleen is typical in all forms of thalassemia, as the bone marrow is overactive and much of what is produced are defective red blood cells that are filtered out by the spleen.