α-Thalassaemia Carriers & Pregnancy

  • 5 Replies
  • 7454 Views
α-Thalassaemia Carriers & Pregnancy
« on: April 02, 2011, 08:09:10 AM »
Hi Andy,
I'm in 26-week pregnant now & I'm α-thalassaemia carrier.

My DNA report stated that "DNA amplification of the α-gene region between the ψα-α2 globin genes, and the ψα2-θ1 globin genes confirms me as an α-thalassaemia carrier. I possess the Southeast Asian deletion (--SEA) responsible for α-thalassaemia in this region."

My questions are, based on the above report I have 1 or 2 genes missing? and in the same pair or different pair of genes (I became more aware of all these terms through recent research due to I was informed that my hubby is α-thalassaemia carrier as well).

My husband's 1st DNA test ruled out that he is negative for the Southeast Asian deletion. But recently when he did the test again, he was confirmed to be an α-thalassaemia carrier. However, we have yet to get our report from hospital so we do not know exactly what have written.

My question is, how accurate is the DNA test? And can we take legal action against the hospital?

2 days ago, we met our gynae and Doctor said chances are: 25% normal, 25% of 2 genes missing, 25% of 3 genes missing, and 25% of hydrops foetalis. Doctor asked us to consider a CVS at 28-weeks to rule out baby is at which category. There is 1% risk of premature labour. Doctor also offers to monitor the fetus’s brain fluid (mainly to rule of the chances of hydrops foetalis), which I will go for the test on next week.
My questions are, should I go for CVS test? I read one of your reply to sixling that if both couples carry the same type of deletion, there is no possibility of the child having 3 gene deletion HbH disease. But why my doctor said I have 25% chance for it?
Hope I can get your advise asap.

Thank you & Have a great Day!!
Regards,
Angelababy

*

Offline Andy Battaglia

  • *****
  • 8793
  • Gender: Male
  • Will thal rule you or will you rule thal?
Re: α-Thalassaemia Carriers & Pregnancy
« Reply #1 on: April 02, 2011, 06:06:31 PM »
Hi Angelababy,

The SEA deletion is a deletion of both alpha genes on one chromosome. The combination of two sets of these genes when both parents are carriers is the most common cause of alpha thal major, or hydrops fetalis, in which the fetus does not survive pregnancy, unless it is detected very early and is determined to be a mutation that can be helped by in utero transfusions. It is not common for this solution to be used to save a fetus. Without knowing what has been found in your husband, it is not possible to say for certain what the possible outcomes of this pregnancy may be. If he is a one gene alpha carrier, the worst outcome is HbH disease. If he is an SEA carrier, like yourself, hydrops fetalis is a possible outcome. Because of this, you should absolutely get the CVS test done, as a thal major fetus can potentially threaten the life of the mother, and often early delivery is the best course to follow for the mother. If the fetus is alpha major, there is far more than a 1% chance of premature delivery, and intervention is often necessary.

Without knowing your husband's deletion, I cannot tell you if there is a chance of HbH (25% if he is a single gene deleted carrier). If he has the SEA deletion, he cannot pass just one deletion on to offspring. It would either be two alpha genes deleted or none. If the doctor knows the deletion your husband carries, he would be more informed and able to tell you if HbH is one of the possible outcomes. If the doctor does not yet know your husband's carrier status, he is simply giving you the known odds when both parents are carriers. There are several types of DNA tests used to diagnose alpha thal and depending on the test and the deletions, the results can be variable and not 100% accurate. I cannot advise on the legal issues but my feeling is that it would be useless to sue, as there is probably a known margin of undetected deletions. Alpha thal testing is difficult and the experience of the tech running the tests can be a factor in the outcome of the test.

Has the pregnancy been normal? Does the fetus seem to have a normal activity level? Has an ultrasound been done and was anything unusual noted about bone development, especially in the skull? It's not much to go on, but if nothing unusual has been noted so far, it is a positive but not conclusive sign. CVS is essential at this point. No mother should take the chance and risk her own health and life when hydrops fetalis is a possible outcome.
Andy

All we are saying is give thals a chance.

Re: α-Thalassaemia Carriers & Pregnancy
« Reply #2 on: April 04, 2011, 04:58:39 AM »
Thanks so much for your advise, Andy.

I've just got my hubby's DNA report. Same type with mine.

I've also just done an ultrasound scan. Report indicated Normal growth. Heart action present. Presentation extended breech. Amniotic fluid normal & placenta posterior high.
Test was conducted by lab assistant. Appointment with doctor will be arranged in this week. Hope doctor will send me good news when I meet her.

Based on your experience, do you think this is good sign to rule out the possibility for Alpha Thal Major? Or still advisable to undergo a CVS test?

Thanks again & have a great day to you!

Cheers Angelababy

*

Offline Andy Battaglia

  • *****
  • 8793
  • Gender: Male
  • Will thal rule you or will you rule thal?
Re: α-Thalassaemia Carriers & Pregnancy
« Reply #3 on: April 04, 2011, 02:00:17 PM »
The ultrasound alone cannot be relied on (we recently had a new member lose an alpha major baby and ultrasound showed nothing irregular), so please do have the CVS. Your own health may be at risk, so it is a must.
Andy

All we are saying is give thals a chance.

Re: α-Thalassaemia Carriers & Pregnancy
« Reply #4 on: April 13, 2011, 02:34:58 PM »
Hi, me again. I've just done my ultrasound scan today. This round the scan was done by an experienced doctor and i've better understanding about the scan now. It is Middle Cerebral Artery (MCA) Doppler.

The result was not so optimistic as the MCA doppler suggests a hyperdynamic flow with the TAMX above 90centile & low resistance. It is still within normal range but a possibility of fetal anemia. The Vmax reading also high, though within the normal range.

I will continue the weekly fetal MCA doppler and prefer to have CVS at 32-week. However, if it continues to increase, I will proceed the CVS earlier to rule out the possibility.

Pray for me,

Re: α-Thalassaemia Carriers & Pregnancy
« Reply #5 on: April 20, 2011, 05:02:15 AM »
I've my MCA Doppler again this morning. The readings and everything seem normal and stable. My next appointment would be next 2 weeks.
Anyhow, we're advised to proceed the CVS test, which I've scheduled it on 32-week.

Cheers

 

SMF spam blocked by CleanTalk