Posted a bit before... but heres my intro :) Apologies for the length....

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Heya all :)
Im Gemma, im 28yrs old, and im from Australia. I dont know anyone else with Thalassemia at all, so am stoked to be able to tell my story.

I was diagnosed as having a thalassemia trait Sept 2010 after more than 4 years of Haematological tests and queries after i tried to give blood for the first time in 2006. This opened a whole new door up after my gp couldnt work out why my anaemia didnt improve on iron tablets.

I was asked repeatedly if i had mediterranian in my background and i repeated that, no i did not. Ive got atleast 7 generations scottish/english on one side and atleast 4 of english/welsh on the other. Prelim tests by the gp were sought after - including Thlassemia studies, reticulocyte count, Vit B12, Folate, Iron studies, ESR, LDH,TSH.

Retic % was normal ( 1.5 with a lab range of 0.5-2.0) but the absolute count was high- 93% ( lab range 20-80)

Generally my blood work has been like this:

Hb - between 110-130g/L
RBC - over 6....always a bit high.
Hct - 0.30-0.45g/L
MCH- 19 or 20
MCHC 297-325 ( but it is always higher with a lower Hb/high RBC )
Plt - 290-260
RDW - fluctuates.... sometimes its in the upper end of normal... some times its below the bottom range of normal.

So i got sent to Haematology at RNS hospital - which is also my local public hospital. After stalling because a Haematologist wanted to do a bone marrow aspirate and trephine on me, i finally went back, and they had relooked at my symptoms and stuff and then started on a battery of tests again, decided to rule everything out before bone marrow stuff. At this point they were suspecting Sideroblastic Anaemia as the Haem studies didnt indicate Alpha thal trait - which they were suspecting.

So all sorts of tests were had over the months, all coming back without being the cause. My blood films still showed high pikocytosis, anisocytosis. I had done Haem at uni, and got to look at my blood under a microscope.... and it was only then that my dubious lecturer understood why they wanted to do tests on my bone marrow cos blood film had lots of different shaped RBCs and rouleux ( sp?) and although the film looked microcytic and hypochromic, my RBC was still high.
Had the bone marrow biopsy and trephine..... and there was no sideroblastic anaemia.There was something on it - i think it was minor extramedullary something.... i didnt catch all of the page. i should of gotten a copy.

More tests - Copper levels were double normal so i got a 24h urine test for copper. No issues there.
They tested for every cause of anaemia in the book, and came up with nothing. They even took my case before their peers to try and work it out, and the haem registrars boss came in and thought i might of had Elhers Danlos Syndrome cos im quite hyperflexible. Have hight BP (135/90 on a good day), and a fast hb..... but that went no where either. Test for porphyria came back neg.

So after exhausting every other avenue, they sent away 2 blood samples to another hospital to test for alpha thalassemia genetic testing. This was the first time the technician had ever taken these samples, adn they had to call 3 people to go and find out what they needed to do etc. This day they had taken other samples for all the other tests so it was 12 tubes in total.

I waited for months and then got a call they had to run another test still.... so waited.

And finally it came back that i have ( wait for the mouthful) epsilon gamma delta beta zero thalassemia. i have a deletion 1.12M bp upstream and 9k bp downstream from the Beta globin gene. This was done by MLPA assay.

Haem registrar said she was going to write up my case to submit for a journal, but i havent seen it yet hehe.

Ive been told to take Folic Acid and get blood work checked regularly cos they know next ot nothing about it. No one else in family was tested on a dna level cos their regular bloodwork was fine and blood films were normal.

The one article ive been given is from 1990. And the deletion is still smaller than mine :P

And this is on top of my asthma, allergies, excema, ADHD, GAD, IBS, screwed menstral cycle etc etc.... fun fun.

( sorry for the essay, i just started and couldnt stop hehe)


Offline Zaini

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Hi Gemma.

:welcomewagon on the forum ,i am sorry to hear that you had to go through so much trouble to get your diagnosis,silent thal traits are often hard to detect,doctors even miss carrier status by just trying to treat it with iron,which is not really helpful,but your case seem to be much more difficult to diagnose,i am not the expert on gene deletions,that would be our Andy the Awesome :) so wait for his reply.

And talk as much as you want,we are here to listen. :hugfriend



Offline Manal

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  • mother of thal intermedia child
Hello Snowygem and welcome to the site :wink



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