Delta Beta Thalassemia or HPFH

Hi Andy,

I'm a new member. I've been reading all posts on this forum and they were really helpful. You guys have been doing an awesome job in helping people like us. Our daughter ( she is less than 2 months old) has been diagnosed with a Beta Zero Thalassemia. The Beta Globin Gene  Sequence reports says "compound heterozygosity for two different beta zero thalassemia mutuations, which is characterized by a complete absence of bets globin chain production". Her Electrophoresis report shows a HbF of 100% ( Hb A  and Hb A2 missing ). I read somwhere on the web that 100% HbF sometime due to either Delta Beta Thalassemia or HPFH. I had asked her Hematogolist about this but she said they havnt done the test for that. They did just Beta Globin Gene Sequence. Do you see any possiblity of having a Delta Belta or HPFH? Just to provide some data on her CBC reports:

12/05/2014:  RBC 4.74 and Hb 14.1
 01/05/2015: RBC  3.02 and Hb 8.3

So her Hb did drop significantly in a month..is it a signal for Beta Thalassemia Major?

Thanks for your help.

Hi Chicagobaby,

Learning your child has thal major is not easy, but you have found a place that can help educate and direct you. Please take some comfort in knowing that gene therapy as a cure for thalassemia will probably be approved by the time your child is a teenager. Treatment has been revolutionized over the past 30 years and now a cure that will not rely on matching bone marrow donors is within sight.

Beta thal majors will have 100% HbF, because they cannot produce any HbA. The DNA testing would definitely have shown if Delta Beta or HPFH were present It is most important that your child is seen at the right hospital. The US has a network of Thalassemia Centers of Excellence that provide specialized treatment for thal. If you are in the Chicago area, you should have your child seen at Lurie Children's Hospital. All thal majors should be seen at one of the Centers at least annually. Dedicated thal centers make a huge difference in the monitoring and treatment of patients. The thal center will tell you that the child should transfuse soon. There is no point in watching the hemoglobin level drop once major is diagnosed. Low Hb hinders growth and development and modern thalassemia management has found that a child should be transfused as soon as the Hb begins to drop significantly. Proper management gives patients their best chance at normal growth and a fairly normal life.
I also suggest that you contact Eileen at
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

CAF is a wonderful organization founded by families of patients that does incredible work with a very small staff. Eileen can help you with anything you need to get into the thal care system.

Hi Andy,

Thanks for your prompt reply. Yes, I agree. I'll not wait. For me, the most thing at this point is her normal growth. We have an appointment next week. One follow up question. I was reading somewhere about Delta Beta. They say Beta Gene Sequencing may not identify Delta Beta or HPFH. Is that true? That's the only DNA test Mayo Clinic did for her.. No Alpha Gene Sequencing. That's why I still had some hope.


Thanks!

Dear Chicagobaby,

Welcome to our site.  My 16 year old son was diagnosed with thalassemia major at age 3 months.  He is also beta zero.  I remember the day that he was diagnoses very clearly, and I remember the confusion, uncertainty in the days and months that followed. 

I am pleased however to let you know that with regular maintenance with transfusions and chelation, children having thalassemia cannot be distinguished from other children.  Thalassemia children and adults that I know are healthy, productive and athletic people and they manage thalassemia very well.  If you maintain your child with proper transfusions (keeping hemoglobin at 10 or above) and iron below 600 your daughter will also grow up to be healthy. 

With new cures on the horizon, such as gene therapy there is a chance that your daughter will be cured in the near future.  There is much to be positive about.

My best,

Sharmin

Thanks Sharmin. I agree. Outlook looks much better now for Thalassemia Major. I'm a very optimistic person. Given all the development in BMT and Gene Therapy,I know there is a very high chance that she will be cured in the near future. At this point, I just need to make sure she gets proper treatment and care from us. Thanks again. This forum is simply awesome. You guys have been doing a wonderful job. Kudos to all of you.

Thanks

I think the fact that the Hb is dropping quickly now would rule out the possibility that delta beta was present, as that would produce a milder phenotype than what seems apparent here. It looks very much like a typical beta zero beta zero case, where transfusion in normally started between 3-6 months.

You will be amazed at the doctors in the thal centers. All medical staff involved with a patient will meet together to plan the child's treatment. This almost never happens in traditional hospitals, leaving patients chasing after multiple doctors who are not always on the same page with each other.

Yes, I agree. That to some extent rules out Delta Beta possibility. But she did have a mild cold before the last blood work,so that may have contributed to some drop but not sure to what extent. So you wont recommend further DNA testing?  Thanks again for your help! I live in the Chicago area in fact around 20 miles from Chicago city, so I'll definitely be in touch with Dr. Thompson at Lurie hospital.


Thanks!