Hey there, 28 male intro with possible HUGE Thal genetic trait

Hey all,

So here's my story. 28 year old Australian, 75kg, 5"10, male. Into fitness and weightlifting. Mediterranean on my father's side (Cyprus)

Was quite active as a child, had nice tan skin like dad (who is a Type 1 diabetic) and played sports. I do remember however, that I never had a lot of lung capacity and would lose my breathe quite easily. Not great endurance, especially when running.

By age 18 I was less active, and started getting quite pale. My peers seemed to mature quite ahead of me, with body hair and masculine features, while I still looked young.

By my early 20's, one day randomly I just got hideously sick. Constant nausea, anxiety, constantly tired and looking really really pale and unhealthy. I got blood tests at the time and doctors couldn't explain what it was and passed it off as anxiety and all mental. After a solid 2 months it randomly just passed as quickly as it came, but I never ever felt quite right.

Jump forward to age 25. By now I was weight training, and struggling to find any decent level of endurance. Putting on muscle was extremely hard. I would lose my breathe stupidly quickly. Wake up even more tired than I went to bed, and constantly fatigued to the point where breathing felt like a chore. Always sickly pale. Libido never consistent. Mind was a foggy mess. I pushed through workouts (which I could only manage 3 times a week) and my diet was flawless. Tried all vitamins and supps. Nothing helped, or lasted long enough.

About a year ago I decided to get to the bottom of my fatigue once and for all, so went to an endocrinologist and did a full blood panel. Surprise surprise, my Testosterone levels at age 27 were the levels of an 80 year old. My Leutinizing Hormone was pretty low, so my pituitary wasn't telling my body to make Testosterone. "How long had I been like this?" I wondered. Maybe that's what happened when I got sick years ago - my hormonals were shutting down. The range levels are so outdated that even being in range and getting the A OK from the Doc can still have horrible ill effects at low levels.
I attributed this was most of my problems, so began taking Testosterone therapy. It worked well, but wasn't the gold at the end of the rainbow I had hoped.

By 28 and now on testosterone, my levels are high normal. I have energy, my mood has increased, sex drive is better, anxiety decreased, more confident and I've put on about 6.5kg and am getting buff due to my good diet and weight lifting. Beard is growing in well. Although I could still probably pass for a baby faced 17 year old! Haha.

However, I still lack endurance, am sickly pale and get really short of breathe. I figured naturally it could be a type of anemia, surely. But my iron tests all check out quite well.

So I dug deeper, and read about Mediterranean anemia. Then I asked mum about it (my parents are divorced), and her answer shocked the crap out of me.

"Oh yeah," she said. "That's what all those kids on your dad's side died from!!!!!!!!!"

It turns out that my father's mother (grandmother) was 1 of 10 children, the other 9 of which died from Thalassemia.

The plot thickens.

I suddenly realized that my dad is also one of 10 children himself. And although he and one of his brothers are healthily tanned skin, most of his siblings all have sickly white skin just like me. Could it be they are all carriers and don't even realize it? All signs point to probably.

So now, here I am at work having found this forum and that's where I'm currently situated. I have blood work as of 1 week ago for my Testosterone checkup(Doctor was not concerned with values) but only found this out yesterday so he wasn't told to look for anything unremarkable concerning Thal.

Blood Stats are:
MCV, MCHC and MCH all below or borderline low scale. (will grab these values when I get home).
Low B12 (Now dosing at x4 times. Regular dose did nothing)
Lowish Vitamin D (Now dosing 4000iu daily. It's winter time here as well.)
Iron in scale - seemed OK as far as I remember. Will check as well.

2015 IRON TEST
Iron                    19.3 umol/L    (5.0 - 30.0)
Transferrin            2.5  g/L          (2.0 - 3.2)
TIBC (Calculated)   56  umol/L      (46 - 70)
Saturation            34  %             (10 - 45)
Ferritin                101 ug/L         (30 - 300)

2016 IRON TEST
Iron                    10.0 umol/L    (5.0 - 30.0)
Transferrin            31  umol/L      (27 - 46)
Saturation            16  %             (10 - 45)
Ferritin                141 ug/L         (30 - 300)

2015/2016 HAEMATOLOGY - LITERALLY IDENTICAL EACH TIME
Hb      155   g/L  (130 - 180)
Hct      0.49         (0.40 - 0.54)
RCC      6.2  x10^12 / L (4.5 - 6.5)
MCV     79   fL      (80 - 99)
MCH     25   pg     (27 - 34)
MCHC   317  g/L    (320 - 360)
RDW    14.4  %     (10.0 - 17.0)


Symptons:
Sickly pale skin
Baby faced/young features
Poor endurance/easily fatigued
Shortness of breathe/unsatisfying deep breathes
Unsatisfying sleep
Strange pins and needles sensations in feet and hands at times
Still inconsistent libido at times/could be better.

I have a number of questions but will update later with my values. Most pertinent of which is, wondering whether Thal can show no of few symptoms when young, and then excarcerbate when older?
Cheers

Updated with bloods

Without ruling anything out: You are not in the slightest anemic.

Could you tell me what dosage of testosterone you are given?

Hey there,

200mg of Testosterone Enanthate a week. Total Test is exactly 1,000ng/dL.

Your MCV and MCH are borderline low. Your Red cell count is high. Ask for a hemoglobin electrophoresis test. If the HbA2 is high, it is almost certainly beta thal minor. Symptoms do get worse with age, but I would have to think that something besides thal minor is involved to have such bad T levels.

I wonder what causes the symptoms and especially the pale skin. I mean, he said other family members had a tanned skin and his hemoglobin and RBC count are both in range. What exactly causes the paleness? 

Your MCV and MCH are borderline low. Your Red cell count is high. Ask for a hemoglobin electrophoresis test. If the HbA2 is high, it is almost certainly beta thal minor. Symptoms do get worse with age, but I would have to think that something besides thal minor is involved to have such bad T levels.

Hey thanks Andy, I'll put that onto the To Do list. Is this something a GP could take care of, or rather a dedicated haematologist? Yeah the low T was a strange one, but alas, sometimes it just happens.

So, say it is BTMinor. Can anything be done besides diet and supplements? Would getting some of my other levels (B12 etc) in check, to help absorb the iron and minerals, vitamins etc that I do have, improve the symptoms?

When I started my testosterone, I used to get hung up on Red Cell count and thought that was beyond important, and why I was feeling so drained. As said, now I feel better, but still not great.

Outwardly thinking, I notice a lot of athletes and fitness folk use a steroid such as Boldenone - which increases hematocrit - to greatly improve endurance and cardiovascular function. What would happen if a Thal used something like this? Obviously still having poorly formed cells - but just a lot more of them? Naturally, not a long term solution.

I wonder what causes the symptoms and especially the pale skin. I mean, he said other family members had a tanned skin and his hemoglobin and RBC count are both in range. What exactly causes the paleness? 

Basically my understanding is the lack of haemoglobin in each cell, and poorly formed cells at that, even though the number of them is still sufficient. They can't carry oxygen and its the exact lack of oxyhaemoglobin that causes the pale skin.

I've had people tell me my paleness is genetic, which is BS (well, if it's from Thal that's exactly right I suppose - haha) but what I mean is I WAS a tan kid. I know that's how I should and could be. They try to say I'm genetically pale, as in British, or something.

I guess I had enough haemo to suffice the needs of a child, and as I grew older, that lack continues to exemplify itself.

Another interesting thing is that my father has Diabetes - which I believe can be caused by Thal in some form, and most likely what those children died from. Apparently they all got to a certain age and then just deceased. This was with 'old medicine' so no-one knew what was wrong until quite too late. But back to the point.

Perhaps the Diabetes suggests my father is also a carrier IF it was caused by Thal. Don't know. But he and his brother who are both tan, have never been short of energy either, and both have worked manual jobs all their lives. Played football, etc etc. Carriers with few symptoms or carriers with no symptoms, it's hard to say.

But the rest of my father's siblings who all share my sickly pale skin are all desk jockeys - successful people at that - but very reserved, sluggish and anti-sporting is what I would describe them as.

I find this intriguing, I just wish we knew more about it.

Basically my understanding is the lack of haemoglobin in each cell, and poorly formed cells at that, even though the number of them is still sufficient. They can't carry oxygen and its the exact lack of oxyhaemoglobin that causes the pale skin.

The total amount of hemoglobin per unit of blood doesn't change and in your case it is high, so your theoretical oxygen transport capacity should be the same as a non-Thals if you had something like Thal Minor. This confuses me because I am also very pale (while the rest of my family is not) but had rather normal hemoglobin levels in my last blood test. Maybe it has something to do with a secondary effect of Thalassemia, decomposition products of the hemolysis or anything like that?  

Don,

Your GP can order a hemoglobin electrophoresis. It's usually definitive if beta thal minor is involved.

I will mention that other male thal minors have mentioned low T, but again I don't know if there is a relationship to thal or just coincidence as some percentage of the population has that issue anyway.

And a couple things about thal minor. Being in range for a nutrient may not be enough. Thal minors should strive for a vitamin D level over 50 and a B-12 level at the high end of normal (800-900).

The total amount of hemoglobin per unit of blood doesn't change and in your case it is high, so your theoretical oxygen transport capacity should be the same as a non-Thals if you had something like Thal Minor. This confuses me because I am also very pale (while the rest of my family is not) but had rather normal hemoglobin levels in my last blood test. Maybe it has something to do with a secondary effect of Thalassemia, decomposition products of the hemolysis or anything like that?  

Ahhhh I see. Perhaps it has something to do with absorption of nutrients responsible for melanin etc despite having sufficient levels. As in the body just cannot use them. Above all else this is something I'd like to get to the bottom of, if possible. I absolutely despise looking sick. And it's not a healthy or natural pale, but that gray, colourless walking dead kind of unhealthy pale.

Don,

Your GP can order a hemoglobin electrophoresis. It's usually definitive if beta thal minor is involved.

I will mention that other male thal minors have mentioned low T, but again I don't know if there is a relationship to thal or just coincidence as some percentage of the population has that issue anyway.

And a couple things about thal minor. Being in range for a nutrient may not be enough. Thal minors should strive for a vitamin D level over 50 and a B-12 level at the high end of normal (800-900).

Thanks Andy! Right now I'm doing double daily recommended B12 dose and 4000IU D3 daily. Will follow up in a month and get the other test to see what's what, and if it's working.
There was a point where I was literally on a steak and eggs type of diet, and still showing up low B12, so it may be that injections are the answer.
The Doc has also mentioned testing for celiac with the "stomach test", for a potential look at a lack of absorption as well. But as that's quite confronting and invasive, best left as a last resort, so he says.
Cheers.

If you haven't tried sublingual (tabs that dissolve under the tongue) B-12, try that before resorting to injections.

Got my electrophoresis test. Results were so far inconclusive, so they're doing a gene test for full assessment.

My heamatology numbers were down yet again. Red Cell count up a bit from the testosterone therapy, all concentrations and volumes down even further.

400 micrograms (x4 daily dose 100) took my B12 from 296 to 412, so switching to sublingual 1000mcg to aim for 750 top of range.

And Vitamin D3 did not move at all from 63 taking 5000IU a day (5x1000). Top of range there is 250, with 51 being the low limit. Will try to find 5000IU tablets and take 3 or 4 of them.

It's interesting that your doctors are willing to do so many tests. Mine could clearly see my low MCV and I told him I had thalassemia and he just said everything is fine. He probably had no clue because he asked me if I drank a lot of alcohol (I don't) since my GPT was very high.

Edit: Were you able to let your GP do all the tests, including hormones? Or did you also meet with an endocrinologist? I'm not sure what I can expect from my GP.