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Thalassemia Minor / Re: Serum ferritin test - what should I expect?
« Last post by AlecF on Today at 10:46:14 AM »
I decided to call the test results line at my local GP surgery, to ask for more detailed information, and I should have done that before as they were extremely helpful. The following morning I received a 7-page printout, with 37 results in all.

The first one was as expected for a BT carrier - the standard full blood count showing the red blood cell count and their distribution width to be "above the high reference limit", and the mean cell volume and cell haemoglobin level to be below it. There followed a bone profile, serum C reactive protein level, urea and electrolytes and liver test levels - a full page of seeming normality.

Next, serum ferritin level 187, serum prostate specific antigen level 1.9 and TDSH level 1.43, all within normal limits. Serum B12 was 266, so I guess no need for a supplement here. Hopefully the same with Serum vitamin B12 at 266?  Serum B12/foliate level was 6.5. Haemoglobin A1c level 36.6, HbA1c level 5.5%.

Finally, on a subsequent separate test, Transferrin saturation index was 34%, serum transferrin level2.3g/l,Serum iron level 19.9, saturation of iron binding capacity 57.7, and UIBC 37.8.

That sounds quite comprehensive to me, although I have nothing to compare it with. Is there any important test which they may have missed?
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Hello,

Odd question here. My wife was diagnosed a long time ago with Beta Thal Minor. We recently got pregnant, and to my surprise I was notified that, because I have either a triplicated or quadruplicated alpha chain, our child is at increased risk of developing Beta Thal Intermedia (BTI).

From our genetecist there are a few things that will determine whether our child does end up developing BTI (I hope this information helps someone in the future):
  • If my wife has the more severe mutation (Beta0) or less severe (Beta+). If less severe, chances are lower that the child will experience major BTI symptoms. We're currently waiting for genetic results to determine whether my wife has the Beta+ or Beta0 gene. In the meantime, is there a way to determine which one she might be based on her HPLC (blood test) results or even from her symptoms (of which she has had none. Was slightly anemic once but could have been caused by her vegetarian diet?)?
  • If I have the alpha homozygous triplication gene (aaa/aaa) or heterozygous quadruplication (aaaa/aa). With the homozygous triplication gene, I have a 50% chance of passing it on, whereas it drops to a 25% chance of I have heterozygous quadruplication. What are the chances of one vs. the other?
Thanks for your help and guidance!
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Thalassemia Minor / Re: Serum ferritin test - what should I expect?
« Last post by AlecF on September 19, 2021, 02:49:53 PM »
Many thanks, Andy. that gives me a better idea as to what to ask about my test results, especially whether that complete iron panel is covered.
Alec.
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Thalassemia Minor / Re: Serum ferritin test - what should I expect?
« Last post by Andy Battaglia on September 18, 2021, 07:41:14 PM »
AlecF,

Iron deficiency and thal minor are not related. One can have thal minor and perfectly normal iron stores. The anemia of thal minor is caused by the underproduction of healthy red blood cells and the hemoglobin deficiency that is a result of the thal minor. Iron deficiency can be present, along with thal minor, but your normal ferritin suggest that isn't a problem. Quite often, the anemia can improve if vitamin B-12 and L-methylfolate supplements are taken.

As far as any test of iron, as with all thal minors, a complete iron panel is best for determining if your iron levels are normal. This may have already been done. Tests should include serum iron, serum ferritin and total iron binding capacity. Together, a good picture of the iron situation can be seen.
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Thalassemia Minor / Re: Serum ferritin test - what should I expect?
« Last post by AlecF on September 13, 2021, 10:03:22 AM »
Many thanks for that tip, Melissa. To be honest I have never been given the complete test result, only the comment that it was "normal", whatever that might be. Regarding other deficiencies, I do have a particularly well-balanced diet following the usual recommendations, and spend much of my time outdoors during the summer.

I can easily find out more, because the GP's surgery has a special line for test results, so I will ask for the complete analysis. Are there any guidelines as to what levels I should expect to find?
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Thalassemia Minor / Re: Serum ferritin test - what should I expect?
« Last post by Melissa A Tan on September 10, 2021, 12:46:18 AM »
Hi Alec,

Did the doctor just run ferritin? Iron studies would have been preferable. There can be other nutritional deficiencies that also contribute to anaemia.

Was 25-hydroxyvitamin D tested?
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Thalassemia Minor / Drop in hb
« Last post by Melissa A Tan on September 10, 2021, 12:40:10 AM »
Thank you for replying Andy.

I went to check the time at which the complete blood count was done, it was five hours apart.

As you said, a 1.9g/dL drop seems extreme.

I was also discussing this with Laurice.

The dear daughter doesn’t want to take her supplements now. (Gotta love teenagers 😉) She was recently telling us how sick and tired she is of being poked by needles and being on IVs 😅

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Thalassemia Minor / Re: Potential thalassemia minor and looking for support...
« Last post by AlecF on September 07, 2021, 03:17:04 PM »
Melissa mentioned DNA testing. I have a full printout of mine, from an interest in family history - but how can I identify the gene that's responsible? Is there any place I can forward the file to?

My trait was confirmed by the central laboratory in a regional group of hospitals, and they issued me with a "Haemoglobinopathy Card" 30 years ago. I have no idea what special tests may have been carried out on my blood sample, but my GP gave the impression that it was detected purely from the very small red corpuscles.

Alec.
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Thalassemia Minor / Re: My dizziness and symptoms went away thanks to this forum
« Last post by AlecF on September 07, 2021, 03:04:16 PM »
Hi Ludo,

Don't get discouraged by your performance in sports. Maybe we thals can't be top athletes but for sure we can enjoy a lot of physical activity. We do have to be extra careful not to overdo it though. I learned this the hard way because I wouldn't listen to my doctor who told me that overtraining, sleep deprivation and binge drinking do not go well with a thal person.

My son also has the trait and - unlike myself - he is very sporty indeed. He has an Open Water Scuba certificate, regularly ran in marathons, graduated to triathlons and eventually Ironman. Normally he suffered no ill effects, although occasionally he did end up on a drip after the finish. He is also a keen mountaineer and tackled Kilimanjaro solo, with the obligatory guide; the guide suffered badly from altitude sickness and my son had to help him down afterwards! So don't be discouraged from taking part in sports, as long as you get to know your limits.
Alec
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Thalassemia Minor / Serum ferritin test - what should I expect?
« Last post by AlecF on September 07, 2021, 02:48:04 PM »
I have the beta-thalassemia trait and in fact it has been passed on to more than the expected 50% of my children.

I have had numerous blood tests over the years and in each case it concludes that I am slightly anaemic, until I show them the carrier card I was given after the initial diagnosis many years ago. Then, in each case, I am told that I must be OK, without any suggestion of further investigation.
 
Recently I had problems associated with anaemia - a noticeable lack of energy and unsteadiness in particular - and so my GP arranged a normal blood test. The result was the same as expected, and then I reminded my GP about my BTT and he told me to disregard the conclusion. It seems to me that this is quite usual - there seems to be an assumption in every case that BTT carriers aren’t ever truly anaemic.

However, this time, after considering this situation, my GP suggested that I take a further test, for ferritin in my blood serum. When the result came through, I was told by the surgery that the result was “normal”, but nobody seems to have compared the two tests. It may have been normal for someone with “normal” blood, but should I not be expecting a slightly higher level of ferritin that would help to balance out my iron deficiency?

Incidentally, I once took a DNA test for family history reasons and this showed no evidence of any distant ancestors coming from the usual “thalassemia zone”.

Thanks for your advice,
Alec.
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