Sickle Cell Thalassemia

Hi there,

I am new here and I am so glad I stumbled across this website. I am a new mum to be from Australia and currently at 12 weeks.
I have the Beta Thal minor trait and my husband is a sickle cell trait carrier. We were told once we saw our OB that everything was fine and we had no reason to worry. He said he would confirm with my haematologist and get back to me. Suprise Suprise we actually have a 25% chance of having a child with Sickle Cell Thalassemia which we found out yesterday. I was shocked by the news and at this point have no idea where to go or what to think. There is no way that I can let go of this child and with that view I am very cautious about going for a amino that may result in harming the baby.

My question is there any one out there with this or know more about it? My doctor said it can behave like Sickle Cell disease but the severity will depend on whether I am Beta Thal Zero or Beta Thal plus, which apparently according to him with my thal coming from my father's asian heritage its more like I am Beta Thal Zero which is the more serious side of it. I am so confused and just need to get some idea of what I will need to expect if the child does have this?

Thanks!

Hi,

Your doctor is correct. The severity of sickle cell beta thal is dependent on the mutation of the beta thal gene. Beta zero will produce symptoms just like sickle cell disease, while beta plus and sickle cell will present as a milder condition. I will say that the only way you can know is to get tested yourself and find out what type of beta mutation you have. An amnio, of course will tell you what the baby is and you would also know from that, but if it is 100% to keep the pregnancy, there isn't much point in an amnio. It won't make any difference. You would just know sooner. Many people of Asian descent are not beta zero carriers, so I wouldn't assume anything based on your heritage. If the child does carry both genes, it may be dependent on transfusions. Treatment for sickle cell beta thal is much the same as for sickle cell disease.

There is a drug called hydroxyurea which is used to help raise the hemoglobin level in sickle cell patients. There is a new drug in trials that offers much more hope in raising the Hb to a manageable level. Trials have been very encouraging, so this should be added to the list of treatments that will be available in the coming years. If your child does carry both genes, you can expect treatment to improve greatly in the next decade.

It's interesting that your husband is from Kenya. Even sickle trait carriers can have a sudden crisis when they go to a high altitude. A football player in the US almost died a few years when his team flew to the mile high city of Denver, which set off a sickling crisis. I know Kenya has many mountains, so I'd be curious if your husband ever had any problems with altitude.

As I mentioned earlier, there is great progress being made in treating both thalassemia and sickle cell disease, and gene therapy will eventually be able to cure both, as they are both caused by defects in the same gene. Currently, the key is well managed treatment and it will get much better in coming years as new approaches become routine, along with new treatments. Hopefully your baby will have neither gene. If it is a carrier, make sure the child is properly aware of this, as it is absolutely necessary for later in life decisions concerning testing partners before having children. This is the most important thing that all carriers must understand.

Hi

What state of Australia are you in?

Each state appears to have one major treatment centre for thalassemia.

In Victoria it is the Monash Medical Centre.

Have you tried contacting Thalassemia Australia.

Regards

Catherine

Hi Catherine,

We are in NSW and I haven't contacted Thalassemia Australia as of yet. We have seen my haemotologist and she painted a slightly more positive picture for us and is happy to arrange to work with a Paeds haemotologist if our child does end up being Sickle Thal. She has also pointed out that there is a spectrum of severity that could occur and we have decided that we will climb that mountain when we get there.

Also the fact that my husband has not had anyone in his family suffer from Sickle Disease before has made them think that perhaps he is a alpha thal carrier also which has cancelled out the severity, his HbS percentage is very borderline between the two. We are going to wait until after bub arrives then get Genetics done on both of us before we try for another baby.

Thanks!

Glad you feeling more positive.

I understand genetic testing can be slow, maybe you want to look at having testing started for yourself and husband.

My best wishes to you and your family.

Catherine

Hi Catherine,

We were going to undertake the Genetic testing but then decided to wait as I am a med student and already have a stressful lifestyle. Doctors decided that I could spare the stress as it isn't going to change my mind about the bub. They need to do Genetic testing on bub at birth anyway so that they can give a definite diagnosis, so they will take samples from us all then and send it away. The closest centre that can do the testing for us is 2 hours away so we decided that we will just do it all in one hit seeing as the outcome won't change anything for us.

This site has been very encouraging! Thanks all for your support!

Congralutions on making the decision that is right for your family.

Two hours is long way to travel, more than once if you don't have to.

Regards


Catherine