Thalassemia Testing in UK - Where, How, Cost?

Hi,

I have recently found out that my wife is more than likely to be a carrier, since her identical twin has been diagnosed with having the gene. However, I'm currently unsure of which type (alpha or beta, or how many if alpha).

We plan on both being tested in case we are both carriers, in order to plan for the future so we know what the risks and options are for having kids.

I think when she (the sister) first told us she said it was beta, but I'm not certain as this was before I started reading up on the subject, as I had not previously heard of the condition. (p.s. this site has been great for gaining info).

As we are both of chinese ethnicity, I believe the gene is more common than in Europeans, however from what I've read it seems that the Alpha version is more prevailent amongst Asian and Chinese races?

We will be visiting the GP soon (in UK) to arrange tests, however I have some concerns which I'm hoping may be answered.

- If we simply ask the GP for a test to determine whether we are carriers, what type of test would this be?

From what I've read on here from Andy, it sounds like the only 100% accurate test is DNA analysis, but this sounds like something that wouldn't be available for free from the NHS, or at least not readily dished out upon request. Can we insist on this?

- If the DNA analysis is paid for only, do you know roughly how much it would cost in the UK and how available it is? (e.g. in all major cities, or only in London).

- Is it something I could get through private medical insurance? (I have corporate cover provided through work). Also, would it be worth being referred privately for the whole process (not just DNA part)?

- Is DNA analysis essential in all situations? If so what does the standard test show, and what is the point of it?


If anyone is able to share any experiences or knowledge, it would be much appreciated, especially Andy, as he seems to be a real expert on this.

Thanks in advance.

How you proceed will depend on your own blood work. A CBC and a hemoglobin electrophoresis test should indicate whether or not further testing is advised. Knowing your wife's status is also essential, as the advice will be different for alpha than for beta. If your wife is beta minor, and your electrophoresis does not show beta characteristics, there will be no chance of problems in children. However, since alpha trait is not as easy to detect, if she is alpha, then you may need a DNA analysis to determine if you are also a carrier.

Hi Andy,

Thanks for replying.

Does that mean it is possible for the blood work to completely eliminate any possibility of being a carrier of either, or will it only work for beta?

E.g., would it be possible to determine whether my wife is "only" a carrier of beta and not alpha, purely from this blood test? Or is DNA testing the only way?

Reason I ask is, hypotethetically if wife's blood test came back as Beta Thal Minor, but no Alpha at all, then it would mean that I only have to worry whether I also carry the Beta Thal Minor Gene, and not worry about Alpha?

Hope that makes sense, I will also be making an appointment for next week hopefully.

Any advice on how to ask for the test and whether I should specify a test? Some of the other posts regarding the attitude and lack of relevant knowledge amongst GP's are quite concerning.

Thank you.

The hemoglobin electrophoresis test will help to determine if more testing is required. Beta minor is fairly easy to diagnose from the electrophoresis and a CBC. If the fetal hemoglobin (HbF) level of your wife is higher than normal and the HbA2 level is also high, then beta minor will be the likely diagnosis. If alpha trait was also present, these numbers will not be high, as the alpha deficiency will balance the beta deficiency. If she is beta only, then the only concern you would have is if you are also a beta minor.

I would suggest getting your wife's test done so you can decide if you need to proceed with any further testing.

Ok so we've had the blood tests after going to the doctor to request screening and explaining our situation.

I called up today to ask for the results as it's been a few days and was told that my blood count was fine and hemoglobin levels were normal so I'm fine. I asked if this was definitive and if it meant I'm 100% safe of not having Thalassemia trait. There was slight hesitation but I was reassured (by the receptionist albeit) that yes this is what the results show.

However, when my wife then called up for her results she was also told that her results were fine... surely this can't be right if her genetically identical twin has already been confirmed as Beta Thal Minor?

I've now re-arranged another appointment with the doc to discuss further, but it has not filled me with confidence since I feel as though there will still be slight doubt if they confirm me as non-carrier.

Can you get copies of the test results? If the MCV and MCH are normal, along with normal hemoglobin levels, that trait is unlikely. Did you ever find out if the twin is alpha or beta? Alpha won't necessarily be diagnosed by routine blood tests in adults. Get copies of your test results and I will look at them. Can you also find how how the twin was diagnosed? It would be helpful to know what test was used and what was found.

I will ask for copies of the results when I go for my appointment later, and hopefully they'll be ok with that (although I once asked to take a photo of an on-screen x-ray image of my teeth and was told no due to copyright/confidentiality or something like that..).

At the very least, I'll try and make a note of some key measures, including the MCV and MCH as mentioned.

Her twin was diagnosed as Beta trait due to the red blood cells being smaller than normal, which was picked up as part of some routine blood tests since she's pregnant (probably around 2-2.5 months at time of diagnosis).

I went through the test results with the doctor (different one this time, much more helpful) and feel much better about it.

I was happy to find my levels appear normal and do not suggest thal trait, although my red blood cell count and haemocrit are slightly low. So I will look into what this may be caused by, what it could mean, and whether I should do anything about it..

However, as originally expecgted, the doctor also confirmed that my wife's results clearly show Beta Thal trait (high RBC count, low MCV & MCH, high A2 & F), and was quite surprised and worried that the receptionist had told her the results were normal.

I also managed to get prints of both results (he was happy to do so) which are as follows:

Measure                   Me        Her
      
White Blood count      5.55          6.25
RBC count                  4.46         5.49
Hb concentration         13.8         12.3
Haemocrit                  0.407        0.381
MCV                         91.3          69.4
MCH                          30.9         22.4
MCHC                        33.9          32.3
RBC Distribution Width 12.4%     17.3%
      
Hb electrophoresis   No abnormal Hb bands detected (both)
Sickle solubility test   Not indicated   Not indicated
Hb A2 level               2.8%      6.1%
Hb F level                 0.6%       7.1%

There were also other measures like platelet counts, lymphocite, monocyte, nucleated RBC, etc which I have ommitted (all within the quoted norms) but can add if it's relevant?

Thanks