To transfuse or not to transfuse

Hi
My son is 1.5 years old and he was diagnosed with thalassemia when he was around 10 months. His hemoglobine analysis back then were as follows:
A : 14.5
A2 : 2.6
F : > 40
Hb : 8.4

Since then his HB has been ranging between 7.3 lowest and 8.9 highest. The doctor recommends to give him blood when HB is below 8 and he got transfusion when HB was 7.3. But then another doctor told us there is no need for transfusion if he is maintaining an HB above 7. This is were we are confused wether he should be getting transfusion or not, and wether he is major or intermedia. We are also not sure if we should consider BMT and start preparing for it or no need for it.

Hope I can get some guidance here on how to move forward.

Hi Fahed_FN,

The electrophoresis looks like beta thal intermedia, as does your description of your son. According to your bio, hydroxyurea will be tried later. There is actually no reason to wait until age 2. I would highly recommend that another electrophoresis is done before starting, so you have a baseline percentage for the HbF level, as a rise in this will indicate that the drug is working. Because this is planned, I would suggest refraining from transfusion until after the drug has been tried for at least 6 months. If his Hb drops below 7, you will have no choice but to transfuse. He should also be taking folic acid daily (L-methylfolate is the preferred type) and should continue that while on hydroxyurea. It is worth trying. We do know patients freed from years of transfusion by using hydroxyurea and wheatgrass together.

BMT is not available to non-transfusing patients, so for the time being, no decision can be made on that. If his Hb drops and he must be transfused regularly, then a BMT could be considered.

Thanks Andy for your reply,

The doctor was against giving HU before the age of 2, according to him it is better so that his body will be ready to receive this chemical medicine. my son is on Folic Acid and we are following up on him on a every monthly or 6 weeks, and the doctor will be doing another electrophoresis soon.

My son has been healthy and active so far, except for some paleness and yellowish eyes. And we are always worried about the future and how thalassemia will treat him or how it will affect his life and consequently all our lives.

I have a number of questions which i am not being able to find final answers for, i would really appreciate if you would answer or at least make it clear for us:

1 - Can he live normally if he maintains his Hb above 7? of course with the usual symptoms of anemia such as the spleen issues and other things.
2 - Does HU loses its efficiency with time, i.e if it works, will it be not boosting Hb after years of usage? and in case it does, i guess it will be too late to consider BMT as it is preferred to do it before the age of 7 right?
3 - Our doctor says some Intermedias upgrade themselves to major, if this is true, will it be permanent? i.e will he be needing transfusions constantly and he cannot maintain his Hb above 7? or it will be from time to time?

I really appreciate the time you are spending in replying to all of us, it is really making a difference.

Thank You

1 - Can he live normally if he maintains his Hb above 7? of course with the usual symptoms of anemia such as the spleen issues and other things.

Living at 7 Hg has its issues as you mentioned. Baseline Hg in Canada is 8.5, below this level triggers blood transfusion. You may try occasional blood transfusion to keep the Hg above 8.5-9. This will help the tiredness, spleen enlargement, mongoloid appearance and other issues.

2 - Does HU loses its efficiency with time, i.e if it works, will it be not boosting Hb after years of usage? and in case it does, i guess it will be too late to consider BMT as it is preferred to do it before the age of 7 right?

Hudroxyurea is relatively new drug, long term issues and efficacy is unknown at this time. The option of BMT will always be present, however, BMT can have certain drawbacks as well. I don't want you to think that BMT is the ultimate cure, you need a matched donor (have you checked for that), GVHD issues, puberty issues, etc are common side effects of BMT.

3 - Our doctor says some Intermedias upgrade themselves to major, if this is true, will it be permanent? i.e will he be needing transfusions constantly and he cannot maintain his Hb above 7? or it will be from time to time?

If the diagnosis of intermedia is done properly including DNA testing, the intermedia will not convert to major.

Thanks Canadian_family for your reply.

We are not thinking of BMT as an ultimate cure, all what we need is to insure a healthy and proper life for our kid through any possible cure, and apparently BMT is the only known cure so far. All I'm worried about is that HU will work for a while and then will stop being effective, by then it may be too late or too risky to consider BMT.

We are closely looking up for the new gene therapy trials but it needs years to be available for the public. And maybe it will not be available for non-transfusing patients as well.

We are currently giving him Iranian saffron which is said to be very good for the blood. We hope it will help a bit.

We are not thinking of BMT as an ultimate cure, all what we need is to insure a healthy and proper life for our kid through any possible cure, and apparently BMT is the only known cure so far. All I'm worried about is that HU will work for a while and then will stop being effective, by then it may be too late or too risky to consider BMT.

It will be not late or risky for BMT if HU does not work. Rest assured.

We are closely looking up for the new gene therapy trials but it needs years to be available for the public. And maybe it will not be available for non-transfusing patients as well.

Given the young age of your child, you have the time on your side to wait for the results of gene therapy.

We are currently giving him Iranian saffron which is said to be very good for the blood. We hope it will help a bit.

Folic acid is another option for you to consider.

Hi,

We have visited the doctor today and were surprised his HB was down from 7.9 in October 1st to 6.9 today. The doctor said that we shall do another test after 10 days and we'll see it it keeps on dropping or not, and we'll transfuse if it does. Moreover the doctor said that his latest electrophoresis from October 1st showed hemoglobine A at 24%

My son was sick a couple of weeks back and it was a combination on infections including teething and flu. So we were regularly visiting our pediatrician and were giving him multiple medications. I wonder if this could cause a drop in HB. He has been very active lately so I was expecting the HB level to go the other way 

Yes, being ill can lower Hb. His Hb is quite low now, so if it does not rise soon, a transfusion will probably be needed.

Hi,

Today we have had the second appointment to follow up on the previous drop in HB and it was up to 7.5 after it was 6.9 11 days ago.

So the doctor considered this as a good sign and gave us another appointment after 6 weeks.

It is a good sign and hopefully the Hb will continue to rise. I do think that it's worth trying hydroxyurea and wheatgrass together. We are seeing quite a few patients in India whose Hb was intermedia level and required transfusions who now are transfusion free after using hydroxyurea.

Thanks Dr. Andy for your reply,

Our doctor believes there is a chance it may be delta beta thalassemia and if so his HB will rise by the age of 2. We hope so..

As for HU, he still insists we should wait until he is 2 years old or slightly before. 

With that high an HbF level, delta beta thal does make sense. It also increases the chances of hydroxyurea working once it is started.

Dear All,

We have visited the doctor today and my son's the HB was 7 but the doctor was happy that he was growing well and active, so he decided to start the HU as of today. He is confident HB will rise to 9 soon.

We will be going again in 2 weeks to check the effect of HU on WBC and platelets but until then, we need to keep a close eye on my son as the HU is taking effect.

I do appreciate any advise from the experienced parents at this point.

Thanks

Hi everyone,

Just an update.

Yesterday was our followup appointment for my son after starting HU 2 weeks back. Back then his Hb was 7 and the doctor advised to start with 1.25 ml per day(he is 13 kg).

Now his Hb is 6.8, so the doctor advised to increase HU to 2 ml/day.

I dont know if Hb not increasing is normal or expected at this stage. We are hoping this will change by our next visit in 2 weeks.

I will keep you posted.

Take care.

Dear Fahed_FN,

Hope the next result will be good.

Mridula