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Thalassemia Patients and Friends and thalpal Ā© A. Battaglia 2019





55375 Posts in 5922 Topics by 6232 Members
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A message for all  parents who are thals. Keeping your iron load under control is an absolute obligation to your children.
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Author Topic: Unknown Thalassemia until in 30's!? w/ Bloodwork  (Read 588 times)
AirJordan
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« on: May 06, 2020, 12:33:38 PM »

Hello all

Im so glad I found this forum as my life is finally making sense. First Ive listed my CBC to even see if anyone confirms my Dr. that this is Thal. My Doc is honestly a genius to catch this in my mid 30's. It seems this going undiagnosed has literally guided my entire life. Is this consistent with Thal Minor or Immediate? im pretty sure its minor but have wait until my next blood work

RBC 6.51
Hemoglobin 15.7
Hemocrit 47.7
MCV 73
MCH 24.1
MCHC 32.9
RDW 16.8


All my Iron was normal and vitamins etc. Im due to get another CBC because this was done over a year ago.
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Andy Battaglia
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Will thal rule you or will you rule thal?


« Reply #1 on: May 14, 2020, 11:01:00 AM »

Your RBC is quite high, which is an indicator of thal minor. Your MCV and MCH are low, which also indicates possible thal minor. Your Hb is quite high and that would not indicate a typical thal minor, but putting it altogether, it may very likely be a more benign thalassemia trait, that does cause overactive bone marrow, but is not causing anemia. If this is the case, even with a normal hemoglobin level, you may experience some of the effects of the overactive bone marrow (the high RBC confirms the bone marrow is overactive). A hemoglobin electrophoresis test might tell you if you carry thal minor, but if it is one of the more mild traits, that may not show in the electrophoresis. You should have the electrophoresis test done and if that shows nothing, a DNA test may be needed to confirm. The only reason to do this would be to learn if you do carry any type of thalassemia, so that you would know that any partner should be tested for thal before deciding to have children.

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Andy

All we are saying is give thals a chance.
Slade
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« Reply #2 on: August 19, 2020, 01:31:02 PM »

Dear Andy,

I'm a thal minor diagnosed in my twenties (I'm 39 now). It caught my attention that you mentioned about overactive bone marrow as I like AirJordan have RBC above 6 on my CBCs.
Could you please elaborate on the overactive bone marrow and what can I expect as a thal minor?

Cheers,
Mart
« Last Edit: August 19, 2020, 01:37:26 PM by Slade » Logged

Hb Lepore variant
Andy Battaglia
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Will thal rule you or will you rule thal?


« Reply #3 on: August 29, 2020, 01:56:00 PM »

Hi Slade,

Bone marrow is overactive in thals, because they produce many defective red blood cells, RBCs, and those are filtered out, mostly by the spleen (this is the cause of enlarged spleens in thals). In response to producing defective RBCs, the body works harder to produce more RBCs, trying to provide enough good RBCs to carry hemoglobin and its oxygen throughout the body. Many patients will still have anemia, as the body cannot produce enough hemoglobin to fill the body's needs, regardless of how many RBCs it tries to pump out. One other observation I have made is that minors who have normal Hb levels almost always have RBC levels that are quite high, indicating that the added bone marrow activity is sufficient to raise the Hb to normal. However, these patients still report health issues and this is the result of all the defective red blood cells breaking down, along with the imbalance of alpha to beta globin, which basically wreaks havoc on the body. The creation of free radicals and oxidation caused by this process should be addressed with a diet and supplements high in antioxidants.
The problems of thalassemia are a combination of not enough hemoglobin and the problems that the unmatched globin chains cause. This second part is understood by very few doctors.
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Andy

All we are saying is give thals a chance.
Slade
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« Reply #4 on: September 22, 2020, 04:26:35 PM »

Thank you Andy, this information is very helpful. I agree about the doctors not understanding the second part of the problem - none of them ever gave me any advice on how to address the potential damage caused by those free radicals and stuff.
I'm not sure if I can blame them because it took me more than 15 years since diagnosis to begin to figure it out and this is thanks to you and this forum. I should have taken measures years ago - supplements with antioxidants, change of diet, etc.
I think I aged pretty badly in just a few years, I can see it in the mirror. I suspect as I age further my bone marrow may not be able to overcompensate so well and my Hb may go down. I just hope I'm not right about that...
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Hb Lepore variant
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