Urgent advice needed

My son is scheduled for his first blood transfusion tomorrow. Phenotype testing is recomended here but I dont think my doctor is willing. Can you tell me the exact name of the test and any idea of how expensive it would be to get it done on my own? He is six months old. His Hb was 7.7  today. It has gone to 7.0 before with no need to transfuse. The reasons doctor gave was
!. he has a prolonged cold and x-ray indictaed beginning of a chest infection. Antibiotics started but doc thinks he needs a higher Hb for recovery as Hb normally drops further by 1-2 gm in this kind of infection.
2. He isnt gaining weight. HAs gained only 0.1 kg in one and a half months. Doc says he needs a Hb of at least 9 to grow normally
3. He's teething very rapidly and early too which may indication expansion of his jaw bones is imminent. This can be surpressed by regular transfusion keeping his features normal.
 

Finally got the gene test report also today. It says it is cmpound heterozygous for codon 15[TGG->TAG] and IVS1.1 [G->A] mutations in beta globin genes. It also says that this mutational profile leads to significant reduction of beta globin chain synthesis. What does this mean for my child?

The doc recommends regular transfusion therapy until he is two and then trying out hydroxy urea. Do you guys agree? 

Hi Zahra,

I am sorry i don't know much about mutations,what i do know id that your doctor is correct,hb of 9.5 or 10 is necessary for good growth,for every bodily part to grow normally,with out any extra stress due to chronic anemia.
As i said i don't know about mutations,but with his hb i am assuming that he might be an intermedia,because at 6 months his hb might have fallen a bit further if he was a major,still Andy would be able to help you read the mutation.
And if he is an intermedia,you might not need to give him regulare transfusions,give a transfusion,keep track of his hb,when it get's really low,give a transfusion again.
What you have to keep in mind is that giving chronic transfusions,and NOT giving regular transfusions,both have their consequences.If you don't transfuse him regularly,it can cause his bone marrow to work abnormally,which will result in expansion of bones,weak bones,and stress on other organs of the body due to lack of oxygen,and we have heard about extramedullary hematopoesis,in which bone marrow works so hard trying to keep with the lack of red cells,coming out of the bones creating a mass near bones,pressing other organs nearby causing pain,but on the other hand we have seen Manal's son who is doing very well without any transfusion,so it is a bit confusing,every case is particular.
And if you give regular transfusions,frst of all you'll have to be sure that blood you are giving to your child is properly screened,free of any kind of diseases,then you'll have to deal with iron overload,which is a bit easier due to oral chelators now a days,but still they can have their own side effects.
You are the one to take decision,i hope my so long post will help  good luck.

Zaini.

Exactly as Zaini said Zahra, each child that has thal is totally independent from the other. But we have to agree on certain rules from my point of view:

1- After fever, give the body a chance to correct itself and raise the Hb, lets say 10 days after the fever, check the Hb and see if there is any difference or not.

2- If deformity or anything that hinders growth occurs, it means that we shouldn't carry on with what we are doing , meaning that we should see other options like, using hydroxyurea or transfusion every now and then, or regular transfusion

3- I still don't know why your doctor is saying that having early teething is a sign of jaw deformity. My two children (one is thal and the other has no thalassemia)  both started teething very early

4-  Concerning weight gain, normally, any baby who is ill and is teething does not gain weight when he expierences those two things especially teething. So what goes for a no thal baby, goes for a thal baby and the reasons are the same for both.

From all the previous, i am not trying to tell you not to transfuse especially that givng one transfusion will not result on dependency nor chelation, BUT  i just want to tell you we should give the body a chance to correct itself ( as long as there is NO harm seen in terms of growth or deformity) and second thing is that  we shouldn't refer everything that happenes to the baby to thal as it is quiet normal that there are other reasons.

Again as Zaini said, it s your decision and you are the one who can tell and feel whether your baby needs this or not.

One more thing, geneotyping test for his blood is very important before starting transfusion

manal

Dear Zaini and Manal,
Thank you so much for your advice. I feel like you are my sisters. I am still confused about what to do. The doctor actually put both options before me about single transfusion or regular transfusions. He said that if it were his child he would go for regular tranfusions with a target of keeping pretransfusion Hb at least 9 so the child can grow well for two years and then start him on hydroxy urea about which he is hopeful because of the mutations being heterozygous, If that doesnt work then maybe think about bone marrow transplant which he hopes will be alot safer by the time we come to it in about 5 years.  He also said not to worry too much about chelation till about twenty transfusions and that now with the choice of chelators they ar able to keep most patients at a ferritin of 1500 or below which is a/c to him far less than what would be needed for organ damage. Maybe we should go for this transfusion  and then see what happens after 3 weeks. Manal how much Hb is your son able to grow well on? Also what is the blood genotype test called? What does it tell? Is it the same as the red blood cell extended phenotype a doctor in Pakistan recommended that tells about whether duffy or kidd ,etc.? I hope they agree to do this because I called a few other hospitals to see if I could get it done on my own but they just referred me back to the one we are at saying they dont do the test. The doctor also said he would do anpther Hb eletrophoresis [before transfusing]as my son is now 6 months old and it should give a clearer picture. Are there any other tests that should be done? Anything else I should know about transfusions? I wish there was a transfusion corner like there is a chelation corner. Thanks again for all your help. Zahra

Hi Zahra

Thanks my friend, i feel the same too

As for the transfusion corner, you can find all you need to know about transfusions in this link
http://www.thalassemiapatientsandfriends.com/index.php?topic=2257.0

As for the details for genotyping test, the purpose of this test is to avoid having antibodies problem later on causing hemolysis in addition to the heymolysis caused by thal.
I will leave this to Sharmin to explain it in details as i am still not totally able to explain it

As for my son, he was diagnoised by coincidence at the age of 4 and his Hb is around 6.5, thanks God till now we are in the normal range of growth, but as i told you before each thal is different and independent. I know  girl with the same level but has some deformity so there is no two cases the same

As for doctors, we can not say that they are wrong particularly in the transfusion decesion. When my son was diagnoised, i went to a well known hematologist and she is from the school that says never ever leave a child under a Hb of 8 and she wanted me to transfuse regularly.  I too went to another Hematologist (which is my current one ) who believes that transfusion should be avoided as long as the growth is in the normal range and there is no deformity and the spleen and liver enlargement are in acceptable ranges because shr thinks that the body sometimes adapt to what it has or there are other factors that play a role too. But in the mean time, she has a contionous observation on growth

See, though they are both good at their field, they have different schools in dealing with thal. I hope you get my point and be sure that we are always here for you to support you

manal

Hi,
I have no idea about the mutations.

What I have been seeing from my daughter's growth patter, till 6 months she gained 1 pound (16) ounces=.45kg on average. After the 6th month, the growth has slowed down to half pound(8ounces)=.22kg per month. This the doc says is ok and is in the 25th percentile.

On the lower side, around 6 months infants gain half to 1 pound per month.

During teething weight gain slows down to some extent and during fever and chest infection, Hb level will be less.

Also I think you need to check whether your son  is feeding ok and is active. Sleeping more than necessary, lethargy, or throwing up more often are  not good signs.

The doctor might also take into consideration if there is a  considerable spleenomegaly, proper bone development and other signs of  anemia severenes.

Whatever is the treatment line, keep faith in the Almighty, everything will be fine.

Dear Zahra,

You and your doctor should decide what is best for your little one, the decision is very individual.  It depends on the health of that particular child, the hg and how well the child does at that hg.  If your doctor feels it best to transfuse for a period of time then you should consider it.  Again, as Manal said, it may be worthwhile seeing how well he recovers after the illness - as long his hg doesn't drop unreasonably low. 

However, you MUST do the phenotype testing before any transfusion is given because once your child is transfused it may be impossible to get good results from the test.  At the very least the sample for phenotyping should be taken before the first transfusion.  I also recommend doing a genotyping test.  I don't know about the cost, as health care covers it here in Canada.  I do recommend that you contact your blood bank to find out where they can send the samples to get this information before you begin transfusions.  You don't get a second chance so you must do it now - even if you don't need to transfuse now - at least the information is available in case you need to in the future. 

I wish you the best and I hope that you make the right decision for your child.  We are all here to support you 

Best,
Sharmin

Hi Zahra,

He said that if it were his child he would go for regular tranfusions with a target of keeping pretransfusion Hb at least 9 so the child can grow well

Your doctor is correct in his approach,normal hb levels definitely help a child growing well,as there is not stress on body and organs,personally i think Manal's son case is very unique,he is doing very well in every aspect Mashallah.

You can mail me if you want to ask something or PM me if you need my contact numbers,i'd be more then happy to help 

Sharmin,

I asked at the lab,phenotyping is not available here,they said yes for genotyping,but said we do genotyping for hep C  i didn't know exactly what i was asking for ,so i dropped it,but what should i ask them   .

Zaini.

Hi Zaini,

We receive desferal premixed and we use it for up to 7 days.  We pick up the premixed bag every Wednesday that we attach to his pump. 

Phenotype testing is nearly impossible on a patient who is regularly transfused because the marrow is suppressed and they  rarely have the adequate numbers of reticulocytes required for the testing.  Phenotyping requires looking at the patients own red cells (red cells do not have a nucleus or DNA) for antigens so that a better cross match can be found for the patient.  This test is best done before a patient is ever transfused.

Genotype testing requires looking at the patients actual DNA - for which they don't need reticulocytes.  As this test uses the patients DNA this method helps to find the best possible cross match for the patient.  It also makes the cross match process easier because it also tells you what antigens that the recipient has so the blood bank does not have to test for it or avoid it when looking for donor blood. 

All of this is done to protect patients from possible reactions and helps to prevent the formation of antibodies because the patient is less likely to be exposed to the antigens that they are likely to react to. 

I really hope that they will do this test for you Zaini. 

Zahra, in your case I think that you should have both tests done because in combination they will give  you more information and help the blood bank always find the best possible match - preventing complications in the future.  Once again, I would like to stress that had we done these tests my son may not have had the only complication we have faced due to his thalassemia.  The complication made things very difficult for us for quite a while - I don't want anyone else to have to go through it unnecessarily. 

Andy, can you add to this? 
 

Best of luck getting these tests done,

Sharmin

I just want to add that once the patient has been transfused, the phenotype of the patient and the phenotype of the blood donors are mixed so the patient now has antigens that are the donor's, so matching by phenotype cannot be as accurate as with genotyping. Simply put, with genotyping, you know which antigens belong and with phenotyping alone in a transfused patient, it's hard to tell which really do belong.

Zahra, I lean towards agreeing with your doctor, although I think you should not make any decision to transfuse regularly until after you see how long it takes the hemoglobin to drop after the first transfusion. What change you see in your child afterward should also be a main factor in your decision.

Dear all,
I really want to thank you all for all your valuable support and advice. It made a huge difference. My son got 140 ml of packed red cells today and is looking pink already:).Though it is still tinged by the yellow of jaundice of hemolysis. He didnt have any raection (as I was dreading ) and didnt cry much except for when putting in and taking out the canula. Actually I cried more yesterday when told he would be transfused. Thats why they postponed it a day. I'm embarassed about that now but the idea of handling a babies transfusion really scared me though I've been transfused myself before. Right after they put in the canula he ws grabbing the tubes to pull it out (interesting new thing to play with) so they covered it with a cloth bandage completely. He still made periodic dives to grab the nice red tube ( also interesting new thing ) which I later covered with a blanket ( including his hand). I tried to keep his other hand busy while he was awake so he wouldnt pay too much attention to them. ( took lots of toys with me).He didnt try to use his bandaged hand to play too much so that was one thing I didnt have to work at. It really was ok. Not the nightmare I had been dreading. He played and slept and nursed as usual just in a more confined space.
The doctor today didnt argue at all and put in the request for genotyping. (Another thing I was fretting about).I'm not sure about phenotyping though. I was a bit confused between them. I hope its the right one. I should get the result next month when I go. They also took a sample for another electrophoresis as he is 6 months now . I hope to get that result at the same time.
This doctor was different from yesterdays but the only diference in future strategy explanation was that they will see if the Hb hasnt dropped below 10 will postpone for a week and check again. he said to take an appointment after 3 weeks but b/c of Eid holidays it will be 4 weeks. So its pretty much like Andy said it should be. Thank you Andy and thank you all for being here for people like me .
Zahra
PS: Manal,the doctor didnt actually say early teething had anything to do with  bone expansion, he just went along with my suggestion maybe because it was helping lead me to go with his recomendation. I dont actually think it does anymore , especially since being told my nephew (thal minor )also had this many teeth at this age.

Zahra,

You are not alone in feeling anxious about your son's blood transfusion - I felt the same way during my son's first transfusion.  Thalassemia and transfusions are a very difficult thing to accept and it takes time to be okay with it.  I am so so glad that you had the genotyping test done for your child - it makes me so happy to hear that.  Regardless of the course your son's thalassemia takes in future - transfusions or no transfusions - he will do very well.  Just have faith in your little one and he will amaze you beyond your imagination.  Just keep giving him the necessary treatment (just make sure that there is no fuss around it because that will cause him to feel anxiety about it) - and he will adjust very easily.  Results from the electrophoresis usually take 6 weeks to come back. 

All the best,
Sharmin

Zahra

I am really so happy that everything went well and i wish your little baby all the health and i am sure this transfusion will help. Please Zahra keep posting and update us , good luck


Sharmin

Results from the electrophoresis usually take 6 weeks to come back.

 


This is really strange Sharmin, i get the result in the same day, why should it take all this

manal

Manal,

This is what our doctor told us when my son was tested as a baby...they took forever to get his results to us and by then his hg dropped to 44   I am glad that they are able to get results sooner. 

Sharni

Hi Zahra,

I am really happy that every thing went well with your son,you and Sharmin and other moms like you are really brave,it's really hard to see that small baby transfusing,my daughter was three years old when she was first transfused,and it was hard enough for me.Just keep monitoring his hb ,if he can maintain it you might be able to escape transfusion.

Sharmin,

We also get electrophoresis results with in a week here.

Zaini.