Alpha Thalassemia Major - Need Help

Hi Andy,

My baby was born a month ago with Alpha Thalassmia Major – HB bart  and did not make it. She was also born with missing toes (only 1 toe on her left and 2 toes on her right) and webbed fingers on her left hand. The Doctor cannot tell us if this is related to Thalassmia. Does anyone know? My husband and I both found out that we are Alpha Thalasmia trait and understand that our risk. everyt ime we try there is a 25% chance we will have the same problem HB bart.

Andy, do you know anyone in the Dallas, TX area that specialized with this disorder.

At 20 weeks my OB refer me to a specialist because the ultrasound shows that my baby girl had an enlarged heart but the specialist told us not to worry and everything else looked normal. He did not mention anything about the webbed fingers and missing toes.

At 30 weeks I develop preeclampsia and had to deliver my baby right away. Is there a way that the ultrasound could pickup any of the symptoms of Thalassmia? Also, do you know the success rate if we do a preimplatation genetic diagnosis?

Thanks

Jenn
 

Hi Jenn,

I'm sorry to hear that you lost your baby. It is very sad, and unfortunately, it is becoming a growing phenomenon in the US, as populations carrying alpha thal genes have migrated to the US and unsuspectingly, have children with other carriers. Education and awareness about thalassemia is needed worldwide, as the thalassemias are the most widespread single gene disorders among humans. There are literally hundreds of millions of carriers of alpha or beta globin gene defects on earth. The problem is serious and modern day migrations have created new areas for problems to occur. The result of lack of education and awareness about thalassemia and the need for testing before couples decide to have children, especially in ethnic groups that originated in the thalassemia-heavy areas of the world, is seen in your own experience. I would suggest that both parents advise all siblings to be tested to see if they are also carriers. In this case, ignorance is not bliss. Being informed is by far the best policy when it comes to thal carriers. All carriers should make sure partners have been tested before deciding on children. All children of carriers should also be tested (this is now done in most states in the US at birth), so that they too can make informed decisions when they are adults.

If detected early enough in the pregnancy, some alpha thals can be saved by transfusions in utero. This is rare, but is done and Dr Eliot Vichinsky in Oakland does this and has saved children by doing this. The fetus has to be viable and this is not always the case and it somewhat depends on the specific mutations found in the fetus. In most cases, by the time the parents are aware that the fetus carries alpha major, it is too late. Yes, every single thing you mentioned is caused by alpha thalassemia because there is no normal hemoglobin to provide oxygen to the rapidly growing fetus. The deformities should be picked up by ultrasound, but hydrops fetalis is not so common and it may be that those looking at the scans did not know what to look for. Most often, the brain is deformed along with any skeletal abnormalities. Organs will also not develop properly. Often abortions are done if it is determined that carrying the fetus will endanger the mother's life, which can be the case when the fetus dies before the end of the pregnancy. Your own experience with preeclampsia demonstrates why abortions are often the only way to save the mother when carrying an alpha thal major. This can rapidly deteriorate into eclampsia, which can be fatal to the mother. Carrying an alpha thal major should be avoided if possible, so you are doing the right thing by inquiring about PGD/IVF. The only alternative besides pure chance (which I do not believe should ever be considered as an alternative) is Chorionic villus sampling (CVS) or amniocentesis to test the fetus and subsequent abortion of majors. Most people do not feel this is an acceptable choice, but I do mention it because all information should be presented so couples can make their own private decisions. The success rates vary, but one thing I try to remind parents is that even in natural conception, there is only about a 25% success rate with each fertilization of the egg, and it's something we are never aware of, but with IVF the parents do know of each attempt, so it can seem like it's not working when it's really more a matter of chance whether or not the pregnancy will take. I know people who have gone through this, and a woman I know In Australia who is a beta thal major, went through this and it took a couple years, but she never lost hope, stayed strong and now is the proud mom of a second boy. I would say this is your only sensible chance to having children. It can be difficult and frustrating but that all fades once you have a successful pregnancy, so please do check into that more. I found a site that rates clinics in your area for success rates. It is at http://fertilitysuccessrates.com/report/Texas/women-under-35/data.html 

I don't know how essential it is for you to talk to a thal center, as long as you don't have a thal child, but I would suggest contacting Eileen at the Cooley's Anemia Foundation and seeing what she recommends and also if ask if CAF recommends any fertility clinics.
Cooley's Anemia Foundation
330 Seventh Avenue, #900
New York, NY 10001
(800)522-7222
Fax: 212-279-5999

Patient Services Manager
Eileen Scott
eileen.s@cooleysanemia.org

There is a Thalassemia Center of Excellence satellite center at

Children's Medical Center - Dallas
     1935 Medical District Drive
     Dallas, Tx 75235

Appointments:     877-445-1234, Fax: 877-445-1234
I believe the new doctor is Zora Rogers, MD

I would also consider contacting Dr Vichinsky at Oakland. He is probably the top expert in the world when it comes to alpha thalassemia. He can tell you exactly how alpha thal could have been detected during the pregnancy and should be able to give you some idea about how successful parents are using PGD/IVF to avoid having an alpha thal.

The Children’s Hospital of Oakland
Children's Hospital & Research Center at Oakland
Department of Hematology/Oncology
747 52nd Street
Oakland, California 95609
Phone: (510) 428-3347
Fax: (510) 428-3382


And one last note and a message to all thal carrier couples who might think about taking the chance that your baby will be among the 75% who are not majors. Odds have absolutely no meaning in this. Nature does not care about math. I know of several families with three thal majors. When your baby is a major, the odds rise to 100%. Don't rely on luck when it comes to thalassemia.

Thank you for your response. Do you know how much does PGD/IVF cost? Does insurance cover this?

I don't know anything about the costs. Insurance coverage may vary from company to company, but a good case can be made that it would be much cheaper to pay for PGD/IVF than it would be to transfuse a fetus in the womb and then pay for a life of treatment as a thal major, which the insurance companies would be obliged to do. I would suggest contacting Eileen at CAF and see if she can help with insurance advice.

Andy,
Will  it be possiblefor baby to have beta thalassmia if my husband and I have alpha thalassmia trait?

No. The alpha gene is on a different chromosome than the beta globin gene. There is no possibility of having a beta carrier or major unless the defective beta gene is carried by one or both parents.

so that means my husband and I need to do a test to see if we are also beta carriers as well. Is there a case where we could be both alpha and beta carrier?

If you've already had a hemoglobin electrophoresis test, it would have discovered if you also carry beta thal. A DNA analysis would tell you what specific alpha thal mutations you each carry and would also reveal if there are any beta thal mutations. Is it necessary to test? Alpha and beta mutations usually interact in a positive way, somewhat ameliorating the negatives by creating a better balance of alpha and beta globin, but with alpha thal major, it cannot help because there is zero alpha globin. Since you already have had the worst outcome due to alpha thal, you should be considering PGD/IBF for any future pregnancies, both to avoid another major and to protect the health and life of the mother, because alpha thal major pregnancies can be a threat to the mother's life. PGD can assure that your child carries no alpha or beta thal genes, so testing may not be necessary for beta separately.