2 month old diagnosed with Homozygous Beta+/beta+ thalassemia

Hello All,
The mutation is IVSI-5 G-C (which is a beta+ mutation).
We think this is thal-intermedia.

Can anyone shed more light on this particular mutation and how severe this is?
I have also read that the onset on anemia is later for intermedia.

Anything I should be looking for in my daughter for me to know that she is getting anemic.

Hi,

This is the most common hemoglobin mutation on the Indian sub-continent and is likely to be intermedia, but predicting the phenotype or outcome, is not simple because other factors sometimes act as moderating factors. These include the co-existence of alpha thalassemia mutations and the presence of the persistence of fetal hemoglobin gene. If one of these is also present, the condition could be somewhat ameliorated. Some intermedias do not need to transfuse, but this is often a matter of wait and see unless the hemoglobin does drop at an early age.

Has hydroxyurea been suggested? This is definitely worth investigating because it may be enough to keep the child transfusion independent if the phenotype is not severe.

Some typical things to watch for are lethargy, pale skin and white lips. If a previously energetic child becomes listless, it is time to check the Hb level.

Andy,
Thanks for the prompt response. This is very helpful.

The child is very energetic and seems normal right now.
The hematologist did a CBC last week (my daughter is 9 weeks) and the Hb level was 9 and MCV was around 65.
I afraid the hematologist we are seeing is not a specialist in beta thals.

Few questions I had are

1) Can we start Hydroxyurea even for an infant (just 2 months)
2) Our Ped recommended giving multi-vitamin drops with Iron - is that safe?
3) At what age does intermedia become transfusion Dependant?

Iron is not advisable as it does absolutely nothing to raise the Hb level in thalassemia and just adds to the eventual iron load. It is advisable to start the baby on liquid folic acid. This is safe and does help build red blood cells. Hydroxyurea has been shown safe in infants, but is probably not yet necessary. I would suggest talking to the doctor about this in advance, but to wait until the Hb drops to below 8, so you have a better idea of the severity of the thalassemia. The age of transfusion dependency in intermedia varies greatly, with some intermedias never needing transfusions.

As Andy has pointed, put your child on liquid Folic Acid,the doctor  will let you know the dosage. My daughter takes 0.5ml, she is 2 yrs.

Try to get the iron free multivitamin, my daughter takes the iron-free Polyvisol.

It is very difficult to predict how low the Hb will drop and when,most doctors and parents of older thal kids will tell you that.Basically, you need to see how the things go with time.

Symptoms of low Hb are lethargy, excessive sleep, poor feeding,more crankiness, pale lips.

My daughter has E/ B+(IVS-1-5 GC), she is 2 yrs and her Hb is currently around 7.5-8 and till now she has not needed transfusion.But depending on how things proceed, doctors will decide. IVS-1-5 GC is a severe B+ mutation, which is very common in India as Andy mentioned. This  mutation is found in majors as well as intermedia. Does your daughter have this mutation on both sides?
If you  are in the US, any of the Comprehensive Thal  care centers will provide you excellent  care and guidance.(See Cooley's  Anemia Foundation site)
Whichever way things go, always remember that today there are thousands of people who are living great and healthy lives with Thal, regular transfusions or without regular transfusions.
Wish you all the best  and may God bless your baby.

Thanks for the encouraging information...

Yes my daughter has the B+ mutation on both sides. I am not aware of the E mutation.
Would this be found on the DNA testing they did on our daughter?
Is the E mutation less severe than B+/B+?

I will start her on the folic acid. The last test revealed Hb of 9 and MCV of 65.
We are hoping it continues to stay that way.

We are based in Texas.

HbE is a different mutation of the beta globin gene and would have shown on the electrophoresis, but if the child is B+B+, there is no possibility of HbE involvement. However, the outcome of B+B+ is often similar to HbE beta thal.

Two things that you should do. Contact Eileen Scott at the Cooley's Anemia Foundation and register. CAF can advise you in many areas, including finding appropriate care and dealing with insurance issues. Second, the absolute best care for thals in the US is found at the Centers of Excellence and their satellite centers. There is one in Dallas. Contact Dr Quinn. This is the most important thing you can do for your child. I would definitely talk to Dr Quinn about the subject of hydroxyurea, should the Hb drop. Many intermedia thals avoid transfusion by using hydroxyurea. In the coming years, we will also be seeing new drugs that stimulate fetal hemoglobin production better than hydroxyurea does. Contact these people now. Regardless of whether or not transfusions become necessary, intermedias do have special health concerns that are best served by doctors who treat thalassemia.

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


  Children's Medical Center - Dallas
     1935 Medical District Drive
     Dallas, Tx 75235
Charles T. Quinn, M.D.
Office: 214-456-2382
Fax: 214-456-6133

Andy,
Unfortunately Dr. Quinn is leaving Dallas to go to Cincinnati.
I have tried reaching him several times with no luck.
I am also in touch with Eileen Scott on the phone.
Thanks for pointing them though.

I'm sure Eileen can keep you posted on who takes Dr Quinn's place. Please let us know if you find out who the new doctor is.

Where in Texas are you located? Send me a personal message and I can link you with some Thal folks in Texas who might be able to guide you.

Hello sk_ut,
I am sorry I did not see your post earlier. You are right Dr Quinn. has left Children's in Dallas.
My 19 months old son was his patient, from birth. He last appt, with Dr. Quinn, was last week. He is also a Thal- intermedia. His situation is very similar as hopefulmommy's daughter.

Dr Z. Rogers (she is also in Children's) will be seeing my son, from onwards. We will surely miss Dr Quinn. He is a very nice. We are looking forward to meet Dr Rogers in our next appointment. If you need any additional infromation pls. send me a personal message, I will be glad to help you out. I am guessing you are based in Dallas, is that correct?

I am sure, as everybody else has already mentioned your baby will be fine, so pls. do not worry. May god bless your baby.

Zora Rogers, MD

Associate Professor

Specialties: Pediatric Hematology-Oncology

Clinical Interests: Hematology; ITP; Sickle Cell.

Research Interests: Characterization of the natural history and improvement of the treatment of children and adolescents with non-malignant hematologic diseases such as aplastic anemia, myelodysplastic syndromes, and histiocytosis; Development of optimum management approaches to major clinical events in children with sickle cell disease (febrile illness, chest syndrome, painful crisis, avascular necrosis, stroke); Use of hydroxyurea, stem cell transplantation and other therapies, particularly in young children, to prevent the morbidity of sickle cell anemia.

Publications: View Publications

Clinical Practice Location:     Children's Medical Center - Dallas
     1935 Medical District Drive
     Dallas, Tx 75235

Appointments:     877-445-1234, Fax: 877-445-1234

Insurance Plans Accepted

Medical School:University of California At San Diego, School of Medicine, La Jolla (1983)

Residency:Los Angeles County, University of Southern California Med Center, Pediatrics (1983 - 1986)

Fellowship:Los Angeles County. University of Southern California Medical Center, Research Fellow in Pediatric Hematology/Oncology (1986 - 1987)UT Southwestern, Pediatric Hematology/Oncology (1987 - 1990)

Board:American Board of Pediatrics
American Board of Pediatrics Subboard of Pediatric Hematology/Oncology

Honors:Phi Beta Kappa (1978)
American Cancer Society (1988)
American Cancer Society (1989)

Language:English


Some searching also found that Dr Rogers has been active in research into various aspects of hemoglobinopathies. I don't feel like I'm going out on a limb to say that she will be a suitable replacement for Dr Quinn. I am particularly happy to see that she has much experience with the use of hydroxyurea.

Hi andy,
               I would like to share that my daughter is diagnosed with Thal Major . she is carrying mutations 619 BP deletion/Cap Site +1 with ploymorphism -/-.

Doctors say she is major since she is transfuison dependent but i have read articles where menationed cap site mutaion cannot be a major but can be intermedia only . Also she is now transfused 7 times and her pre -transfusion HB is at 10 .

I have asked doctors for hyroxyurea but they are saying since polymorphism is -/- it will not help .

So i am bit confused about this pls advice .

Also let me know if i can do another HPLC test for her and at what duration like after 1-2 months i can go for this test .

This will take a bit of time to investigate. Can you provide some more information? At what age was she first transfused? What was her Hb before her first transfusion? What is her current transfusion frequency?

Transfusion dilutes the blood with the blood of the donor, and an HPLC will be affected by this. Levels of HbF and HbA2 will most likely be lower as a result. It is advised to wait 90 days after a transfusion to repeat an HPLC, so this may not be practical. HPLC is believed to be very accurate. Is there any reason you might expect a mistake was made?

Hi Andy,
               When she was 4 months old she was detected with mutation mentioned by me . At that time her HB was 5 and MCV was 68  and RBC 2.33 . So she was given first transfusion at that time . Her transfusion frequecy is 6 weeks (42 days) we have kept it constant and her pre-transfusion HB is 10.2 , HCT 29.7,MCV 86.9, MCHC 34.4,MCH 30 and rdw 18.

One important thing when she was first diagoned her HPLC report showed HBF 56 and
HB A2 3.7 and HB-A - 41

Also when i see her fingers to check blood flow look ok to me but her lips look slightly whitish.


Pls advise.