BTT and spells of short breath & chest pain

Hello Thalpals,

My wife has Beta Thalassemia Minor and has, throughout her life, always been symptomatic despite the insistence of doctors to the contrary. Usually this meant brief spells of aneamia with shortness of breath & fatigue leading to a day of rest. Afterwards, she would be back to normal. This changed last month. She had two sudden episodes of shortness of breath in the middle of the night, accompanied by chest pain and pain in her arms. Being only 35 and otherwise healthy we deemed the possibility of cardiac problems unlikely --- but nonetheless went to the local ER. They performed an ECG and blood oxygen level test and concluded she was not presenting with cardiac symptoms; referred us to our GP. GP ordered chests x-ray to check the lungs and full haematology & iron studies. These take days to receive full results. Meanwhile, my wife is too weak to move about, too weak to pick up minor household items; sleeps for days, eventually weeks.  Pain in the chest travels to arms and back. I pushed the GP for a referral to a cardiologist who performed the full battery of stress electro cardio, echo cardio plus lung tomography scan using argon gas and injected contrast medium. These too are normal. Haematology comes back with the usual suspects noting microcytic hypochromic anaemia: slightly low Hb (112 g/L out of a nominal 115-165), MCV of 63 out of a nominal (79-99), MCH of 20 (nominal 27-34) & MCHC of 315 of a nominal (320-360). While low, none of these are in the extreme. Indeed these values are far better than they used to be. Yet the symptoms of anaemia would indeed appear extreme, all other obvious mechanical complications ruled out. My wife has not been receiving iron supplements or transfusions. Iron studies are normal too - only transferrin being on the low bound: 24 umol/L out of 32-48.

My question is: has anyone else experienced similarly severe episodes of anaemia while officially being diagnosed only as BTT ? If so, what was the conclusion, if any? I am tempted to not pin this on BTT exclusively but possibly an interaction with something otherwise undiagnosed.

Best Regards

Geronimox

P.S. We live in Australia but recently travelled to Tibet and therefore higher altitudes. I don't know if this is relevant.

Hi geronimox,

The altitude may be very relevant, depending on how long ago you were at high altitude and for how long you were there. When was this and how long were you there?

High altitude greatly affects Hb. After about 3 weeks, a noticeable change in Hb occurs as the body reacts to low oxygen levels at high altitude and raises the Hb. Once one returns to low altitude, the Hb will again begin to drop back to the normal range for that person. If this trip was recent, it may have had an effect on her.

One other important piece of information is whether she been ruled out as a sickle cell carrier, as this can cause all sorts of issues at high altitude, especially heart problems.

How was she feeling when she was in Tibet?

Hello Andy,

Thank you very much for writing in. As for the altitude, my wife was at about 2000 meters for about 5 weeks. Out of this we went to about 3000 and 3800 meters for about four days. We then returned to Sydney in the space of a few days - on the 21st of June. So it's been a while. I think her condition surfaced about 2-3 weeks after coming home.

> One other important piece of information is whether she been ruled out as a sickle cell carrier,
> as this can cause all sorts of issues at high altitude, especially heart problems.

Incidentally, I don't think this has been looked at. Yet I think she would not be in a risk group for this, being Asian herself.

> How was she feeling when she was in Tibet?

She did on one occasion complain of chest pain while we were there, which might point at something. I will ask the GP to check for sickle cell carrier.

Is there anything else relating to BTT that might cause an otherwise benign condition to flare up like this ?

Best Regards

Geronimox

Updating this with quantifiable data from blood work:

" Hb -      112 g/L
RCC -     5.7 x10^12 / L
Hct -      0.36
MCV -    63 fL
MCH -    20 pg
MCHC -  315 g/L
RDW -   15.5  x10^9 /L

Red cells : Microcytosis++, Ovalocytotis+, Hypochromia+, Fragmented Cells+
White cells: normal
Platelets: normal "

My Comments:

Microcytosis essentially means the red blood cells are too small. This is symptomatic of BTT and expressed in the mean corpuscular volume count.
Ovalocytotis means that the red blood cells are oval instead of round. Not sure how to quantify one (+) vs (++). Meant to be asymtomatic. Not an indicator for anything else.
Hypochromia: Paleness of red blood cells. Probably in range with expectation given BTT.
Fragmented Cells (Schistocytes): Indicative of haemolytic anemia.  Corroborated by Bilirubin of 15 umol/L. It should be below 15 umol / L.

Now this is an interesting one in that it would complicate matters where BTT leads to lowered red blood cell formation. If on top of that they break down faster, then this would certainly amplify complications. Yet, it would be nice to have a baseline here. I don't have comparative results for prior to the onset of complications so find this difficult to quantify. Does anyone else here know if  Schistocytes is simply something that accompanies BTT or if it is entirely separate?

Ok Thalassemia is one of the intrinsic causes of Schistocytes... so this would appear to be within range of expectation.

Her numbers are typical for thal minor and show nothing unusual. Her chest pains at high altitude may just be a result of her low Hb and the lower oxygen supply available. Since there is no explanation that makes sense in terms of thal, I think it may be something else, possibly a virus she contracted while traveling.

Dear Geronimox,

I have been reading this post for a while because I have similar problems too until yesterday I went to an gastroentrologist at my local hospital.  I was actually jumping queue bypass the normal haematology referral system to the clinic which irritates the consultant's nurse(at first, maybe its in the early morning I asked her to get my file as instructed by the consultant).   I am seeing this gastroentrologist because the consultant happens to be my husband's friend.  I was having a bad gastric problem, together with other problems, chest pains included.  As he went through my file, he saw the endoscopy procedure done back in January 2013.  I was discharged from the clinic because the junior consultant (he's the senior consultant) told me to live with the gastric problems.  The consultant saw that there is a hiatus hernia in my stomach besides bad inflammation to the whole stomach lining, which was not highlighted to me when before I was discharged so he took me back into the clinic.  Bless him!

I was doing a bit of background research, chest pains would be an explainable if this is what your wife is experiencing.  I had a run to the emergency last week with chest pain to be told I am not having chest pain problem because the ECG was fine to be put down as someone who is "attention seeker" and being seen by a doctor who do not know what is HBH which irritates me.  I am due for another endoscopy next week, and the consultant said he will do it for me because I told I nearly "died" of suffocation the last time.  As a matter of laugh, he told me I will suffer if you do it with his "boys".  I hope there is a solution to this problem because I am at a point I was so frustrated the antacids and the proton pump is no longer working. The acid was too great a suffering, it was a distress to sleep at night even because that is when the chest pain normally is the greatest. 

Maybe you can check this out, it may be a puzzle that you may want to look into.

I've had similar symptoms. Did she get B12, folate, and Vit D levels checked?