Pregnant daughter and thalassaemia

Is it possible for you to go with her to a next appointment and " demand" some further tests Am I right that it's a inherited disease from a Mediterranian ethnic background would it be helpful to find a website or group that support thalassaenmia and who may have contacts of where they have found help Sometimes I find support groups have a lot more knowledge and information than doctors who may never have seen it before
Sorry I can't be more help professionally

Might this be of help: www.sctsp.org.uk/ You could at least contact them to find out the state of knowledge on the situation your DD finds herself in; and they might also know specialists who are well-versed in this.

It interests me because I am a cystic fibrosis carrier and so is one of my DDs and GS, and siblings of mine. The accepted wisdom is that carriers are symptom free - but that is not so, as evidenced in our family - evidence is now accumulating that the accepted wisdom is wrong.

Thank you BlueBelle. Yes it is mainly inherited from those with a Mediterranian/Middle Eastern ethnicity. My daughter does 'belong' to thalassaemia groups but it seems that those with a trait have similar problems to her. Those with Thalassaemia Major obviously have far greater problems and are listened to and treated sympathetically.
Her husband is going to her appointment with the obstetrician so hopefully he will be able to emphasise the difficulties she is experiencing.

How awful that no one seems to be listening I hope when her hubby goes with her dr will listen think sometimes it's when they don't have much knowledge regarding condition the tent to ignore it they need to go well armed with facts and demand answers . Hope all goes well

Thank you LuckyGirl
I don't know if my daughter has been on that site but have forwarded her the link. But even on there it states that thalassaemia carriers are symptom free, except during pregnancy when they might be slightly anaemic and need a blood transfusion, which my daughter did in her first pregnancy.
A study has just been completed in Iran which challenges the accepted wisdom of a symptomless condition so hopefully other studies may follow.
I hope your family's symptoms are not too difficult. CF is such a cruel disease.

I think that's awful! I know some things are not listened to but that is quite a serious trait. Could you google names of consultants who deal with thalassaemia and email one of them? Sometimes you get info that way. Poor girl!

Grandmac my dil also has Thallassaemia Trait. Oddly enough, it wasn't picked up until she was an adult when a GP in rural Scotland, of all places, suspected it.

She had quite a lot of symptoms at one point esp bad stomach pains for which no cause could be found. It is a few years ago now but I remember researching it and it seems that people,suspect there is a third group of 'sufferers' that has previously been unaccounted for, inbetween thallasaemia Major & Minor. They do not suffer the problems that Major people have but neither are they symptom-free.

I think she/you will need to be quite persistent in finding a health professional who will look at this issue with your dd, she sounds very unwell, poor thing.

My dil's condition became complicated by a dangerously overactive thyroid but now that has been sorted out and since the birth of a baby, her health in general has improved. I hope your dd feels better soon.

SueDomin My husband was diagnosed while I was pregnant with this youngest daughter and she was tested when she was a year old, so we have always known and before her pregnancy she had almost no symptoms. After having her first baby she saw a consultant supposedly specialising in thalassaemia who told her she thought she could have thalassaemia intermedia, but then discharged her from the clinic! I suppose that is the condition between minor and major. I am just waiting to see how she gets on next week when she sees the obstetrician and if she is no further forward I will have to start stamping and shouting!! That is not in my nature but I hope I can draw on hidden talents if it is required!
Elaniel Can you just email a consultant with no GP referral? I suppose I can find out by doing it. Thank you for the suggestion.

Sometimes you do have to jump and down a bit to get the attention you need.