Newbie looking for answers - Chronic Fatigue

Hi Everyone,

I am new to this site and I really tried to make this as short as possible...really I tried

I have always had general ongoing fatigue and when I was 20 approx. 14 years ago my doctor said my blood tests showed I most likely have beta thalassemia minor. My mom says I was tested when I was a child and was told that I did not carry the thalassemia gene. Regardless, over the years nothing else has ever showed up on my blood test to explain the fatigue and I am constantly told that the thalassemia does NOT cause any health problems. Yet, my mother who has beta thalassemia minor has struggled with fatigue most of her life as well. To this day she remembers how good she felt when she received a blood transfusion prior to a surgery she was getting.
About 3 years ago my general fatigue has become chronic. I started to get this pressure in my head, tension in my neck and mild hand tremors. I saw a neurologists to rule out any auto immume disease. I started IV therapy (magnesium, calcium, gluthathione, B12 & Folic Acid etc.) which to my amazement I felt 100% better, WOW you don't have to feel like you are dragging your body around everyday! I would notice that they started wearing off after 3 weeks and would go in for another treatment but for some reason after about 5 months they just stopped working. It has been over 1 1/2 years since I was doing the IV therapy and my health has slowly declined. I have been on sick leave for 6 months now with no improvement or diagnosis. Doctors are always commenting on my high heart rate (which I think is common for thalassemia) resting is probably 90-110. I also notice that when I eat a it is worse. I was tested for glutton intolerance (negative) and I was on no glutton, no dairy, and no sugar diet for a while but did not help.

Growing up I was so active, I played and excelled in many sports. Now, it's an accomplishment if I walk to the store. :0 I would definitely appreciate any feedback or comments and here are a few questions I have:

1. I have only been diagnosed with beta thalassemia minor through standard hemotology tests. Should I request to be specifically tested for Thalassemia?
2. Are there any common misdiagnosis? Could this be something other than thalassemia
3. Here are some recent test results. Anything stand out?

WBC 6.7
RBC 5.86 (abnormal)
HGB 130
MCV 68.3 (abnormal)
MCH 22.2 (abnormal)
RDW 0.141
Platelet 182
Neutrophil 0.47 (abnormal)

THANK YOU

Hi jenethier,

Your MCV, MCH, RBC and RDW all suggest thal minor. However, your Hb is normal. You would not be considered anemic by that, but you do exhibit symptoms of anemia. The doctor that originally mentioned thal minor may have also had other information regarding the physical appearance of your red blood cells, which can also aid the diagnosis. A hemoglobin electrophoresis test can help to determine if thal minor is present. It will show the levels of the various types of hemoglobin. If HbF and HbA2 both are higher than normal, it will probably confirm thal minor.

Since the IV therapy did help, was any conclusion made about why you would be deficient? The causes would include poor nutrition or poor absorption. How has your diet been? Do you regularly eat a variety of fruit and vegetables? Whole grains vs processed? If your diet has been adequate, it would point towards poor absorption, but celiac disease has apparently been ruled out. Have you tried taking oral magnesium supplements? Again, if you have and don't get the same value as from IV it would point to absorption issues.

There is still a possibility of coeliac disease with a negative blood test.

The follow comment appear on my daughter recent screen:-

''Futhermore, no serological tests demonstrate 100% sensitivity and where a high index of suspician of coliac disease persists and serology is negative, consideration should be given to coeliac gene testing and/or endoscopy and biopsy."

A negative gene testing for coeliac rules coeliac disease.

But a positive test doesn't mean who have coeliac disease.

The advantage of the gene test is that you don't need to have gluten in the diet.

Catherine

Thanks for the info, Catherine. This may be relevant to many members who are dealing with digestive or absorption issues.

Hi Andy,
Since nothing was standing out on my blood tests I paid for some private nutritional evaluation which showed some Dysbiosis, Protein Malabsorbtion Mitochondrial Dysfunction and lower vitamin/minerals but never out of range on my blood tests. That is when I started a no gluten, dairy & sugar diet and started the IVs. But since the IVs stopped working and I felt horrible even on the diet so I have no restrictions at the moment. That being said though I do eat a healthy foods, vegetables and fruit etc. I take oral supplements on and off as I don't see them working esp. if they didn't help through IV. I have however just started L-Carnitine, fingers crossed

My doctor is at a loss, thinks maybe to do with metabolism but there are so many possibilities and no real tests.

I guess I thought I would investigate further the only thing that has ever showed up on my tests which is Thal. minor. And since my mom has it with fatigue issues, seems like a likely culprit! She is sure I was tested when I was younger and it was negative. Does the abnormal blood results develop/worsen over time or would it show up on your hematolgy from the beginning?

Thanks again! 

Hi Marcy,

Most of the blood values will stay in the same range, but the hemoglobin level itself can change. Some of the values relate to the size of the red blood cells and this won't change. The percentages of various hemoglobins detected in a hemoglobin electrophoresis test won't change much, if at all. When the Hb level is normal and tiredness is a chronic issue, I always suggest a vitamin D test. It can make a big difference if you are low. My doctor wants to see a minimum of 35. A few years ago, the docs said 20. New research shows that is too low and above 50 is optimum.

Thanks Andy. Yes, In March my Vitamin D was at 27. I started taking Liquid D3 1000-3000 IU per day and 6 weeks later my level was up to 151 but despite the increase in my Vit. D I did not feel any better.
I am curious about what you meant by "some of the values relate to the size of red blood cells & this won't change"
Do u mean values I mentioned above because most of mine changed. For example 6 months ago (RDW: 15.1, MCV: 68 HGB: 120).

Hi there,

I have always been tired, and seem to feel it all the time now. The other issue being daily migraines, towards the evening/night.

My D, b12 levels are normal, I dont seem to have celiac or malabsorption at this time, I even gained 2 kilos with a basic pediatric weight gain supplement. My hb is 9.6 and I am not iron deficient.

The doctors are clueless... I am at my wits end where I am keen ready to try an anti depressant, in case my fatigue is 'imaginary'.

If at all anything helps, it for a short duration only. Will I always be tired to a point I can barely function?

Marcy,

The Hb and RDW are two that will change and are interconnected. You notice the higher RDW when the Hb is lower. This is typical of anemia. The MCV and MCH however, won't change much if at all. A hemoglobin electrophoresis test might shine some light on your situation. I would be interested in what percentage your HbF is.

Hi Pretty,

I can't recall if you have mentioned this but have you ever had a hemoglobin electrophoresis test? I'm reading so many reports from minors about unexplained fatigue and am wondering if fetal hemoglobin is part of the answer, because HbF has a high affinity for oxygen, which means it does not release it as readily as normal adult hemoglobin. With an Hb under 10, I am prone to believe that is is mostly a lack of oxygen that is causing the fatigue, but I am curious about whether HbF plays a role in this also.

Thanks Andy. I am going to request a hemoglobin electrophoresis test and will keep you posted.

1. Any thoughts on why some people do not see abnormalities in standard blood test until later in life? As I mentioned my mother was diagnosed in her late 20's at which point I was also tested but to her recollection they said I was negative. I had many blood test afterwards (ie. hospitalized for pneumonia) with no mention of Thalassemia until my early 20's
2. Is there a research group/thal group to email/contact and keep them aware of the as you mention increase in Thal Minor with health issues/fatigue and push for further research? 
 

Marcy,

The physical attributes of red blood cells seen in thal minor, small pale red cells mixed in with the healthy cells should be noted in any examination of the blood. This can be seen during the first year of life and on. In addition, the results of a CBC will give evidence of thal trait all through life. The MCV and MCH will be lower than normal and this also should be noted. I would say lack of experience with thalassemia is why it is not seen in earlier tests. Both the techs running the test and the doctors usually have little to no experience with thal, so it is often missed.

I know of no group working on even collecting information about thal minor. It is sorely needed, but symptomatic thal minor is still denied by most thal organizations. Personally I believe that they are afraid of the scope of the problem and have no wish to get involved in anything that would acknowledge that minors can and do have symptoms.

Andy,

Yes I did.

The first time we checked,

fetal hb   0.9 %      normal < 3%
hb A2     3.3%       normal 1.8 - 3.5 %

They said it as a borderline case that couldn't confirm thal minor.

The second time
fetal hb   0.8 %,  
hb A2   2.5%

The reports said NORMAL electrophoretic pattern.

The third time,

hb A      93.6    (94.3 - 98.5)
hb A2     5.5     (1.5-3.7)
And some unknown unidentified peak.

% Tsat  43 (14.8 - 32)

RBC morphology - abnormal-

anisocytosis,        1+
poikilocytosis,      1+
hypochromsia,     1+
micro,                1+
elliptocytes,        1+
ovalocytes,         1+

'Suggestive' of thalassemia trait.


I was always anemic, but it took about 20 long years to get that last report of thal trait.  Till then i was forced to take iron.

I think there are multiple factors for fatigue - oxygen deprivation, low electrolytes, low BP, low sugar, hidden infections, And maybe poor physical fitness too. When one is always tired, who exercises? My metabolism is also high, so i feel I burn out very fast. 

Specifically for my problems, I blame iron - maybe its absence will now let me improve.

Hi Pretty,

I can't recall if you have mentioned this but have you ever had a hemoglobin electrophoresis test? I'm reading so many reports from minors about unexplained fatigue and am wondering if fetal hemoglobin is part of the answer, because HbF has a high affinity for oxygen, which means it does not release it as readily as normal adult hemoglobin. With an Hb under 10, I am prone to believe that is is mostly a lack of oxygen that is causing the fatigue, but I am curious about whether HbF plays a role in this also.

Pretty,

I've been reading about HbA2 testing and it is easy to make errors. However, it is not understandable why the physical characteristics of the RBCs were not noted in earlier reports, as the small and pale RBCs should have raised some possibility of thal minor. "RBC morphology - abnormal- " this should have been noted and investigated. The slightly high TSAT is also a clue that either hemolysis and/or high iron is present. The current high HbA2 seems to rule out any possibility of the previously suspected iron deficiency. Thal minor does seem to be the more likely possibility.

The variation in testing of HbA2, which wouldn't really vary much at all from test to test demonstrates why we should never put too much importance in any single test that seems way out of line. Hemoglobin testing, for example, relies greatly on the expertise and experience of the techs doing the tests. Various types of hemoglobin that occur in small percentages are often missed or misinterpreted. This is also a reminder that if a test doesn't confirm something that you're fairly certain about, a new test, preferably through a different lab should be done for comparison. I must also say on this topic about thal minor that I am troubled by the vast numbers of minors experiencing similar symptoms that cross over into general symptoms of other health issues. Is thal minor a cause or a contributor to some of these ailments, including digestive system issues? The more I read from minors, the more questions I have. There are just far too many similar cases to think it has nothing to do with thal minor.

The CBC reports always mentioned hypo/micro. But any further tests, like iron studies/electrophoresis were borderline. Also thal and iron deficiency are confused by most doctors I met till now. Till one has a report on paper that points to thal, they keep giving iron for anemia.

It was only recently a doctor told me that as a rule, thal minors must avoid iron. Another friend was told to bed rest if hemoglobin drops below 9. Probably it helps, I also feel better - the more rest i take.  Even mild work burns me up fast, I start feeling like i'm in a furnace, and I take days to recover.

Another thing I noticed - when I was on iron supplements and had iron studies done, the %tsat was high. While off iron and fasting overnight, The % tsat would be low. Especially in my case, either way my Ferritin is low, about 9-20.  That is another thumb rule to be prescribed iron.

Whether I am a unique case or there are others like me, I dont know. For now I avoid iron and I feel better, but the Fatigue persists. Migraines too.