Undiagnosed adult seeking advice....

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Undiagnosed adult seeking advice....
« on: July 10, 2012, 03:28:27 PM »
I am a 53 year old man of southern Italian decent who has yet to confirm that I have beta thalassemia trait.  I did not know the condition existed until recently.  I’ve spent my life suffering debilitating chronic fatigue and other health issues.  Recently the condition of thalassemia came to my attention and I began reading about it, then I found this message board and spent a few hours reading every post on your board. All the most commonly repeated symptoms spoken about are my symptoms to a T (chronic fatigue, low immune function, low thyroid function, low stamina, early hair loss, brain fog, cold feet, etc.).  My mother is the only other member of my immediate family who shares my fatigue and compromised immune system issues (my father and 3 siblings are healthy and normal).  I spoke to her about thalassemia and she shared that she remembers a cousin of hers in Calabria, Italy dying at a young age from Cooley Syndrome. Fatigue issues aside, I’m a type A personality and didn’t waste any time getting proactive about looking for the right doctor to help me get a diagnosis.  I found a hospital in New York that purports to be a CDC thalassemia care center.  I called yesterday and talked to the director. When she learned that I’m 53 years old and not a diagnosed thalassemia patient I could practically hear her rolling her eyes. She was dismissive and discouraging and I think I need to look elsewhere for help. As to my blood work – I had labs done just a couple of months ago.  My iron levels weren’t checked, but my blood counts were.  My red blood count and hemoglobin were both on the low end of normal; my neutrophils were outside the normal range (high).  If indeed I have any measure of actual anemia, it’s subtle.  I would really appreciate feedback from this board, and especially Andy, as to how likely you feel it is that I’m an undiagnosed thalassemia sufferer. If you think that I may be, how do I go about getting a diagnosis if there are few conventional doctors who might believe I could be an undiagnosed sufferer?  Can any doctor give me a script for DNA testing or do I need to convince a hematologist that I should have a thalassemia workup done? 

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Offline Andy Battaglia

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Re: Undiagnosed adult seeking advice....
« Reply #1 on: July 11, 2012, 11:40:49 PM »
If you have access to your blood test report, I would like to see these values.

Hb or HCT
RBC
RDW
MCV
MCH

Also, before DNA testing is needed, a hemoglobin electrophoresis test needs to be done. Higher than normal values for HbA2 and HbF are indicative of thal minor.
Andy

All we are saying is give thals a chance.

Re: Undiagnosed adult seeking advice....
« Reply #2 on: August 21, 2012, 12:07:34 AM »
Hi Andy.  Sorry I disappeared. Distracted with business travel.  I found bloodwork results from a number of years ago.  All the relevant values are within the normal range.

Results from labs taken in 1997:
HCT = 50.8
RBC = 4.59
RDW = 12.8
MCV = 87
MCH = 29.5

I also learned from older family members on my mother’s side that there were other Thalassemia sufferers in our family tree back in the old country (Calabria).  If I get a hemoglobin electrophoresis test done, I’d be paying for it out-of-pocket, so before I pursue that I would like to know if I could indeed have Thalassemia minor, suffer the classic symptoms associated with TM (which I do) and yet have normal blood values and no evidence of anemia?  Thanks Andy.  I look forward to your response.

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Offline Andy Battaglia

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Re: Undiagnosed adult seeking advice....
« Reply #3 on: August 21, 2012, 12:22:26 AM »
Hi Rocco,

Your numbers are all normal. It does not appear to be thal minor. Have you had your thyroid checked? I had many of the same symptoms and mine are thyroid related.
Andy

All we are saying is give thals a chance.

 

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