SWAlexander
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Just look at the multi-target of CNS. What symptoms appear when I go into detail about systhem malfunction.
I feel like we wont know until we both find something odd and then have something that works to treat it and then all the symptoms dissipate, only then will we have conclusive proof of the root of the condition. Until that moment all we have is some theories or treatments for part of the condition. Either that or something that appears in a blood/DNA/scan that conclusively shows a clear problem unique to the condition that could cause everything but for which there is no immediately obvious treament but even then until there is a treatment you can't be sure due to the systemic nature of the condition, it could always end up being a down stream consequence. So far at least neither scenario has happened, research is still moving forward quite slowly.
Have you had a blood test for thalassemia? You'd think it would show up there if you had it.
Thalassemia major (homozygous) is diagnosed early in life due to the very obvious changes on a CBC and the need for blood transfusions and major medical intervention. Thalassemia minor (heterozygous) can be missed until someone is older because people are usually pretty functional, but it will show up on a CBC as extremely low MCV without iron deficiency. Hemoglobin as often low, RBCs are typically normal or even elevated.I have only my DNA that confirms the mutation. Unfortunately, 3 doctors don´t know how to order this test. I´m still trying to find another way to have a blood test.
Yes, I think so. Even if not as extreme as the above, you should see similar trends.Sounds like in thalassemia simple, standard lab tests are out of whack enough that it's unlikely to be a missed diagnosis.
Just look at the multi-target of CNS. What symptoms appear when I go into detail about systhem malfunction.
And on a more meta-level, we currently understand ME/CFS as a multi-system disease. That could be very true- in that it's all over the body and not just in the CNS, even though it's partly in the CNS.
Thalassemia major (homozygous) is diagnosed early in life due to the very obvious changes on a CBC and the need for blood transfusions and major medical intervention. Thalassemia minor (heterozygous) can be missed until someone is older because people are usually pretty functional, but it will show up on a CBC as extremely low MCV without iron deficiency. Hemoglobin as often low, RBCs are typically normal or even elevated.
Here are classic labs for thalassemia minor:
View attachment 45043
@SWAlexander I don't see anything in the labs indicating thalassemia, but if you are thinking about your blood clots, I do remember seeing that many of the antibodies you had elevated on another lab are associated with increased clotting and antiphospholipid syndrome. Something to check in with your doc about if you haven't already.