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Author Topic: *Urgent please* Advice needed about beta thalassemia DNA test results  (Read 2451 times)
xAssal93
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« on: August 19, 2017, 01:05:09 PM »

Dear forum users, I joined the forum because I'm in a tough and heart breaking situation, I only have a small ray of hope left and I really hope that it would work out, I would really appreciate if any user can answer this question or if any user knows a genetic counsellor or a hematologist to whom he can show the test results, it would really be of great help.

My spouse and I know that we are thalassemia carriers, we have done the genetic DNA test for beta thalassemia and the lab doctor sent us the results, he informed us that since our mutated genes are different, we may have a chance of a healthy marriage without the consequence of giving birth to a thalassemia major child, however he told us we need to consult a hematologist, attached are the test results and I would highly appreciate if you can tell us what to do and if what we heard is right or not.
We know that there are solutions for our problem like prenatal diagnosis and IVF with PGD, however we would like to know if we can live a normal life without the risk of being unable to conceive due to financial problems or having to do an abortion.

Thanks in advance, we would really appreciate your help.
« Last Edit: August 20, 2017, 08:39:53 AM by xAssal93 » Logged
Andy Battaglia
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« Reply #1 on: August 26, 2017, 02:01:20 PM »

The report says the male is homozygous for IVS-2. This would mean the male is thal intermedia. Is this the case? Is the male anemic?
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xAssal93
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« Reply #2 on: September 02, 2017, 02:41:36 AM »

Thank you for your reply,

I am the male and as far as I know I have no symptoms of being anemic, I'm 183 cm 93KG and fairly active, I go to the gym 3-5 times a week and I consider myself a healthy individual, I don't get sick often and eat quite a lot, I'm confused with the test results as well.

I would really appreciate any additional input as well as answers regarding the original question of whether can we get married normally without the chance of conceiving a thal major child.

Thank you,
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Andy Battaglia
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« Reply #3 on: September 02, 2017, 07:15:20 PM »

I would suggest getting re-tested through a different lab. You should have some effects from these mutations of the beta globin genes if that test is accurate. You should also be tested for the XmnI polymorphism if this first test was accurate. Carrying the XmnI polymorphism can ameliorate many of the problems of thalassemia in an intermedia patient. If you do carry it, there is no guarantee it would be passed onto children. A genetic counselor will probably be required to tell you if to safe to have children.
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Andy

All we are saying is give thals a chance.
xAssal93
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« Reply #4 on: August 26, 2019, 11:16:26 AM »

*BUMP*

If anyone can reply to my original question I would highly appreciate it. This story has been going on for more than 3 years. Your input is highly needed.

Thank you!
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Andy Battaglia
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« Reply #5 on: August 27, 2019, 06:21:13 PM »

IVS-2-745 is considered a mild beta + mutation. There is some dispute about the accuracy of the PSU gene database on the severity of the variant. It is quite likely an innocuous variant that causes little to no harm. Your wife's thal mutation is also considered very mild. There is no variant called simply IVS-2. It needs to be something like IVS-2-1 or IVS-2-745.
The question I gave is why your report says you are homozygous for IVS-2 and IVS-2-745? That would actually be heterozygous as it would be two different variants, so if you are homozygous, it would mean you and your wife carry very mild thalassemia mutations. Homozygous patients have fairly normal Hb levels.

I would suggest that you have a simple hemoglobin electrophoresis test done if you haven't already had one. I would like to know the level of HbF measured before commenting further. A higher than normal level for a thal would be a good indication that it is indeed a very mild thalassemia that you carry. I am leaning towards the side where any children you have would have a mild thalassemia even if they do acquire two mutations from the parents, but it would really help to know your HbF level.
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xAssal93
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« Reply #6 on: August 28, 2019, 10:46:43 AM »

First of all, I am really glad that you took the time to give your input!

However, right now I am very confused, your previous reply indicated that according to the test results, I should be a thal intermedia and I should be experiencing anemic symptoms but now you are suggesting that it is a mild beta + mutation.

I will be doing an electrophoresis as per your suggestion and it should take around 10 working days to be done (it will be sent to another country to be tested accurately) and then I will share it here.

I would really appreciate your further input regarding my question in this post, also, I would like to point out that I have done an electrophoresis  before and the results suggested that I am a beta thal carrier if that can help you rule out anything. I really want to know if we have a chance of living a normal life.


Thank you again <3 
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« Reply #7 on: August 29, 2019, 05:32:21 PM »

As I mentioned, I found an article that stated that the PSU genome database has incorrect information for the severity of the IVS-2-745 mutation.
I would like to see the percentage of HbF, fetal hemoglobin in your electrophoresis. Typically, those with higher HbF who carry that variant have a mild condition and that would explain your normal Hb level.
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All we are saying is give thals a chance.
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