Family coping with Thalassemia Minor, expecting second child

Dear Member,

Here's my brief story and reason i'm here:

I'm 35 yr male Indian living in Australia. I used to be a regular blood donor in India between age of 31 to 33. Then I moved to Australia and thought to continue the practice. However on 2nd or 3rd donation, Red Cross refused to accept my blood as Hb was below threshold, and asked me to see my GP. I was diagnosed with Thalassemia beta after couple of blood tests.

I was already married and had one year old son by that time.

Later that year my wife, got her blood test done for fatigue and fever, and she too was diagnosed with Thal Beta traits.

We got our son check and he too is Thal beta minor. (Very lucky here)

Now my wife is 4 week pregnant, and I got suddenly awakened to the the problem we are dealing with. I now realise its the probable reason of my poor health, fatigue, low stamina, lack of immunity ever since childhood, and for my family to live a healthy family, we have to deal with situation actively.

I am currently seeking help of members on following matters:

Alcohol: I enjoy drinking. Does Alcohol have any effects on health of Thal Beta minor? Seems like I know the answer inside me, but need guidance on this.

Tea/Coffee: Does they make the condition any worst, or help in relief from symptoms?

Vitamins/Supplements: What are the vitamins and supplement we can have to live an active life, and increase our immunity and health overall.

Pregnancy: I understand there are two test CVS and Amnio to detect fetal Thalassemia major. I have started hearing stories (from mum-in-law etc) about severe deformation / abnormality / miscarriage as risks of these tests. I personally feel better to leave fetal untouched. let mother nature decide on our and the child's fate, and prepare our-self to deal with problem after baby is born, but  seems the test are norms these days. Any other tests you'd recommend? Doctor advice is to get tested and abort the pregnancy, in case of Thal major. We need your suggestions / experience.
Edit: Wife will be in India during pregnancy.

Hope to have this journey together with our forum members.

Hey Friends,

We are getting anxious about the fetal tests. The info I've is that there are two test that can detect fetal Thalassemia CVS and Amnio.

CVS 11 to 13 week. Small piece of placenta is removed. Occasionally second sample required as placenta is not mature. Its helps in early detection and abortion is safer during that period. Risk: Abnormality after birth. Missing fingers toes etc. Miscarriage: More risk than Amnio

Amnio: 15 to 19 week. Amniotic fluid is collect. Considered safer than CVS. However termination of pregnancy becomes riskier.

Need help on these:

Are there any other tests, that can help is detecting fetal Thal, withour touching fetal. Kind of initial indication?

Any other tests that are more accurate, and less riskier?

Anybody around Delhi, India been through this experience? Any good hospitals / labs and experience?

I read some research paper on fetal DNA profiling to detect Thal. Can someone share knowledge?

Any thoughts if fetal is Thal major, should we continue or abort? IF you'd have this choice, what would you do?

Many thanks...

I believe that the tests you mentioned are the only tests available for this purpose.

For more information about medical resources in the Delhi area, please contact

Thalassemics India
A-9, Nizamuddin West, New Delhi - 110 013 (INDIA)
Tel : +(91)-(11)-24353871, 41827334
Mobile No.: 9810019950
Click to Call FreeSend SMS / Text Message
Fax : +(91)-(11)- 24353871
E-mail : info@thalassemicsindia.org, thalcind@yahoo.co.in, thalassemicsindia@gmail.com

Thanks Andy. Will be getting in touch with them.

Another quick query. (not sure if I'm putting it in right thread, pls move if it has be somewhere else)

I sent similar query to in-charge one of major hospital of Delhi with testing facility, and she replied as below:

"CVS is done between 11 to 13 weeks and amnio is done between 16 to 18 weeks.  If invasive testing is required for Thalassemia, it is by CVS and not amniocentesis."

What does she mean? Can there be circumstances where only CVS and not Amnio can detect Thal?

I've conflicting thoughts. Medical fraternity is not known or their work ethics in India. These test costs a lot, and doctors get hefty commissions. Somehow most doctors are pressuring us for CVS (and probably Amnio later). We were prefering Amnio over CVS.

On other hand, I dont want to risk on baby and mother's health. Would Amnio will be too late, and risky for mum in case we decide for abortion.

Can we safely wait till 16 week, and get Amnio testing done?

Hey Thalpals, Please share your experience....if anyone been through this situation? I'm sure many would be..

CVS is preferable because you learn the status earlier. This is especially important if ending the pregnancy is under consideration.

CVS is preferable because you learn the status earlier. This is especially important if ending the pregnancy is under consideration.

Many Thanks Andy.

My wife has booked CVS around Dec end, in New Delhi (Apollo Hospital) . They have asked for father's gene mutation study / DNA analysis.

Could you suggest any hospital / clinic / contact in Sydney to carry out this test.

The GPs / specialist are out of reach during this time of the year. One of GP I went to, couldn't co-relate relation between these two test. He says its not required until CVS test detects thal major. While doctor in India are generally suggesting DNA mutation analysis for both parents is required in advance, to get CVS results.

This is found in the links for the Thalassaemia Society of NSW.

Genetics Services http://www.genetics.edu.au/Genetics-Services/laboratory-services
Contact Us


Office:   
Royal North Shore Hospital Community Health Centre
Level 5, 2c Herbert Street
St Leonards NSW 2065
AUSTRALIA

Telephone:   +61 (0) 2 9462 9599
Facsimile:   +61 (0) 2 9906 7529
Email:
contact@genetics.edu.au

Many Thanks Andy

Apparently our GP had referred us for Genetic counselling at RNS few months back, but we couldn't make it. Had no plans of second baby so kind of ignored it. 
Going there on Monday, but little hope I'll find someone on Chrismas Eve.

What do they do with sample in CVS? Will they perform the same test on our (parents) blood samples? How do they co-relate?

What is maximum time we can delay CVS upto. I'm thinking of visiting India in few week and getting all tests done together and wait till results.

Testing the parents is done to see if CVS is necessary. Both the tests for the fetus and the parents are DNA tests that will tell which, if any thal deletions or mutations are carried. If either parent proves to not be a carrier, CVS is not needed. In your case, both parents are already assumed to be carriers. I cannot tell you why DNA tests of the parents would be useful at this time, as the CVS will already be needed, since both parents are carriers.

Hello,

I am probably late replying here but I will anyway incase it helps. Firstly please avoid the amino tests. It has risks and is not worth it. I refused it for all my babies. Why put your unborn at risk like that? Secondly, I cannot believe these doctors tell you to abort the pregnancy. Having a thal major baby (as I do) is no less of a human being. I see no difference with my thal child compared to my non thal children. I'm so blessed I have her and thank God everyday for giving her to me. She is such a joy that I can't describe. I can imagine if I took the amino test and doctors told me she has thal and tried to scare me with that. I'm so happy I didn't do any of these crazy tests on my unborn baby. Yes having a thal baby will mean we have to take her to doctors, test blood and eventually transfuse but that is nothing compared to one smile your baby gives you. And there is so much hope for thals with possible cures in future. I hope you give your baby a chance at life as he/she deserves.

Also wanted to add that I have come across so many kids with different illnesses. Some are so severe that their bodies are totally transformed. Yet their parents have such love and pride for their child and deal with the situation with such strength. We are blessed that we don't have to deal with such situations. Our children are able to look normal and act normal thanks to transfusions. We must always be grateful for what we have because we could of had it much harder as the other parents I mentioned. Having a thal baby is by no means the end of the world. We have it much easier then those in the past. We are blessed.