How Was Your Intermedia Diagnosed?

Zadkhi,

If you can see no reason in your life why you feel depressed it does increase the likelihood that it is caused by your low hemoglobin level. Have you ever tried anything to raise your Hb? The most common drug used is hydroxyurea and raises the fetal Hb. One other thing often mentioned is wheatgrass. The tablet and extract forms are the most palatable. Many thals have tried wheatgrass and some do get an increase in fetal Hb and some who don't say that it makes them feel better in general. More energy, less headaches and better health. The tablets are fairly cheap and I think are worth trying for awhile, although those who have researched wheatgrass say the full effects are not felt until it's been used for one year.

I am glad to see you and Jean communicating because I think you can benefit much from her experience and that is the whole point to this group.  :smile2

Hi you all,

Just wanna know of what to ask the doctor to know my son's gene mution? I have yet to know in detail about his gene mutation!  Maybe once i have the result, only then i can put it in this group for discussions and opinions of others.

On what test should i ask for the result for HB electrophoresis test , DNA test or any other tetss besides these?

Really appreciate it

Later

You will need a DNA test if you want to determine which mutations your son has.

Andy,

I was diagnosed Intermedia a age of 27. My Hb level at that was 9. I had been anemic all thru my life but never transfused as by good diet I managed to be on Hb around 9. The lowest I went was 7 when I was a kid so my GP gave me some Iron tablets. That time no one realised I could be intermedia.

Last year I went to a haematologist and then was diagnosed Intermedia. He prescribed me Folic acid which I take regularly.

I have the reports but not sure how he diagnosed me as Intermedia. 

Thanks

Manu,

The diagnosis may have been based on your low Hb along with the results of a hemoglobin electrophoresis test. If you have the test results, I can take a look at them. Good diet and some supplements may be enough but as you grow older you will need to watch your Hb levels. Some intermedias do require transfusions as they age.

Andy could u tell me what n where to chk in the report for the figures.
I would be more than happy if u want to take a look at my reports.

The following values would help:
MCV
MCH
MCHC
HbA
HbA2
HbF

A DNA analysis would be the ultimate confirmation.

Dctr did'nt ask me to go for DNA test.

Here are the results when I first met him last year Oct. He used to see me every two weeks. Its been 5 months I have'nt seen a haemotologist. Will be seeing one soon. The last test results I had are also included.  I do not have results for HbA, HbA2 and HbF.

      Initial        Latest
MCV   63.8           64
MCH   20.4           20.3
MCHC   31.3          31.6
HbA   92.8   
HbA2   6.2
HbF   <1

Thanks in advance Andy.
Manu

Hi Manu,

Now I am curious also how the intermedia diagnosis was reached. The low level of HbF does not indicate intermedia. Normally, an intermedia would have a higher HbF level, usually over 20%. These levels of HbA, HbA2 and HbF would more likely indicate thal minor. The only level that is unusual for minor is your hemoglobin level and even that is on the high side for intermedia at 9, although a drop to 7 would be more like intermedia.

Have you ever had iron studies done? These would be able to confirm or rule out co-existing iron deficiency. Iron deficiency along with beta thal minor could cause these test results. Another possibility is that you are a beta zero minor. This would mean that one of your beta hemoglobin genes is totally useless and produces no hemoglobin at all. When this is severe, some patients have had to take transfusions even though technically, they have only one beta thal gene. This would be considered intermedia, since intermedia is a symptom based diagnosis and not based on whether one or two genes are mutated or deleted. So, in your case, if your low Hb is caused by thalassemia alone, you could be diagnosed as intermedia, even though it may not be exactly the same as most intermedias who have two hemoglobin genes affected.

DNA analysis would most likely sort this out. If iron studies have never been done, these should be done before thinking about DNA analysis.

Thanks for interpreting the results Andy.

I never had any Iron studies done but in my report I do see following figures ..... Hope it might help

Iron and Iron Binding cap
                                                         Ref range   
Iron, Total                    101                 40-175 mcg/dL
TIBC                            432                 250-450 mcg/ dL
Transferrin Saturation     23                   15-50%
Ferritin                         11                   0-20 mm/hr

When I see the dctr then I will ask him to do Iron studies and possibility of DNA analysis.

Hi Manu,

Those are the iron studies results. I think the reference range for the ferritin is not for ferritin. The reference of mm/hr is actually for the Erythrocyte sedimentation rate, which isn't relevant here. Ferritin is measured in units that look like this for the normal range for women. 15 - 49 yr: 12 - 156 ng/mL
your level of 11 is low and would indicate iron deficiency. Your TIBC is in the high range which also indicates iron deficiency. Your transferrin is also in the low end of normal which also would mean low iron. However, your serum iron is normal. It is a bit confusing. Do you know what your Hb level was when you had these tests done?

From your various test results I would think you are a thal minor with possible iron deficiency. The minor is most likely beta zero, if you are a minor. I really think the diagnosis of intermedia is based on your symptoms. Depending on how old these iron tests are, you may want to have another set done. If that isn't conclusive, DNA analysis should be able to sort out what thalassemia mutation(s) you have.

This sounds like a ray of hope for me 
Thank you for correcting the wrong reference range. Yeah its ng/ mL.
so my Ferritin result was 11ng/mL.

These tests were done in Oct 2007 and that time my Hb was 9.6. This is the first time ever I have gone for such extensive blood work.
After taking Folic acid and iron tablet prescribed to me by my doctor my Hb did go up to 10.3. Not sure what its right now so I am really looking forward me meeting the dctr soon and will ask him to do all these tests again. Will Keep you posted as to what the results are now.

Andy really appreciate your help for my correct diagnosis. 

Hello Andy,

With reference to our previous conversation, I wanted to update you that recently I got my blood work results and my new heamotologist says that my results show that I am a Beta Thal Minor and not an intermediate as to what my previous dctr had told me. So here it confirms what you had said previously after seeing my results..

I will keep you updated if there are any further changes/ updates. Now I see my heamotologist only once a month for regular checkups.


Manu

Manu,

Good to hear that. You might want to test your partner for thal(minor) so that you both can plan accordingly for children. If your partner also carries a thal gene, there is a 25% chance of having a thal(major) child

Hello Narendra,

Yes, as I am pregnant right now, so we got my husband also checked for Thalassemia and his results came out normal. Thank God
So the dctr says that at maximum our child can be a minor. He is regularly checking my blood results. Though I came to know that my HB level have dropped from 10.6 to 8.8 but dctr says thats bcz of dilution of blood but my RBC count have same nbrs as before.

So hoping for the best and will keep all posted abt the progress.

Manu