Toddler to start transfusions

The time has come and we have been told that my almost 2yo little girl is to start transfusions, probably this week. Her last HB count was at 5.5 (as she caught pnuemonia) so it was very low seeing her average is usually at 7.5. I am still trying to get used to this idea and there have been many tears shed... and it has been a really stressful few days.
One thing we don't understanding is why once we start transfusions, why won't they let her HB drop below 100 before she is due for her next transfusion?? Why I don't understand this is that she has been fine and active with a HB of 7.5, so why can't they let it reach this once she has to get transfused again?
Also how long does it take for a young toddler to get tranfused??

Hi Katias Mummy,

Ultimately it is up to the parents of an intermedia to decide if they will have their child in a regular transfusion program, but the doctor's will give you their soundest advice based on the needs of that particular child. Two of our moderators have intermedia children. One transfuses and one does not. Manal's son does not transfuse in spite of an Hb level that is seldom much more than 7, while Zaini's daughter transfuses regularly. The difference is that Manal's son is energetic, is in the normal range for growth, and shows no apparent signs of skeletal changes due to low Hb. He is also on a hydroxyurea program that stabilizes his Hb level, while also providing some other benefits. On the other hand, Zaini's daughter needs blood to maintain an acceptable level of growth, development and health. Each child should be judged by that child's development and not by any rigid program that insists all intermedias should transfuse regularly. If your doctors are judging that your child's growth and development is being hindered by low Hb and may be in danger of skeletal changes, then transfusion will be aggressively recommended as being in the best interests of the child. The child's immune system may be a factor in this case, in addition to the aforementioned reasons.

I don't disagree with transfusing at this point, but regular transfusions are another matter. If your daughter cannot recover her Hb level after an illness, it may be necessary to start a regular transfusion program. This will also ensure her normal growth and prevent any skeletal changes, which are frankly difficult for a child to deal with and can also cause skeletal problems as the child ages. Has hydroxyurea been seriously considered? What do the doctors think about this? Much depends on whether or not they judge that development is not going to be proper unless transfusions are regular, even if hydroxyurea is used. This is something that should be thoroughly discussed with your doctors to your satisfaction, before you make a final decision about her transfusion regimen.

Can we also get a parent to answer the other part of this question about how long this process will take?

Andy,

I have a friend in Australia who is a thal intermedia but has been transfusing for the past 7 years. She is in the fifties and she is trying to start hydroxyurea, but seems so hard for her because the usage of hydroxyurea in thal is not known there. Finally and after one year of trails, one hematologist agreed to let her try it for 6 months. He emailed my doctor for the dosage and asked other questions concerning the efficacy and administration.

Katias Mummy

If you need the studies of hydroxurea in thals to show to your doctor, let me know and i will send you the links

manal

Hi Katia's Mummy,

As Andy mentioned,my daughter is a thal intermedia,but when she was diagnosed,we didn't know much about the disorder and doctor's lead us to believe that our daughter had thal major,so they started transfusing her right away and we never had a chance to see if she could maintain her hb or not,although she did maintain it for three initial years when she wasn't diagnosed.

And once a child starts to get transfused regularly ,the bone marrow is suppressed,so when we came to know that our daughter might be intermedia we had no chance of stopping transfusions,doctors did try to convince us to start hydrea and see if it works,but i wasn't comfortable with the idea of letting her hb go as low as 7 or 8 and then wait for hydrea to work,as it doesn't necessarily works for everyone.

Now that its been 6 years my daughter has been transfusing,i do not regret it,and its my personal case,as Andy said every child should be judged depending on the condition.

I don't think it would take too long to transfuse your daughter,as she is so young they won't be transfusing her a whole unit,its usually 16 ml per kg of body weight,and we usually give a sample for cross match a day earlier so the blood is ready when we go for transfusion the next day.

Hope this helps,

Zaini.

Thank you all for your advice and caring words. Manal I would love some info on hydroxurea as this has never been mentioned to me by the doctor. Will this decrease the size of her spleen? as the doctor said it is now about 10cm... which is very large. The doctor advised that the transfusions should bring down the size of her spleen.
I wish they would just hurry and find a cure as it's not fair having to make our children suffer when we can't do anything about it.

Dear Katias Mummy

Yes, hydroxyurea can decrease the size of the spleen and actually, this is one of its benefits due to the increase of fetal HB. When the spleen is enlarged, a lot of ''energy'' is consumed by the body, but after using hydroxy this energy is directed to growth.

Find below an important study about the role of hydroxy in eliminating transfusions in thal major patients done on 49 patients. Please show it to the doctors, hope they get convienced.
 
http://www.ams.ac.ir/AIM/09123/0013.pdf
 
Concerning Hb f and its relation to thal or hydroxyurea, you will find below an explanation for this. First F HB refers to Fetal HB and it is one of the kinds of HB. When we were babies inside the wombs of our mothers, all our HB was Fetal Hb and is produced by the gamma genes and after the baby is delivered this F HB is still being produced until the baby is  around 6 months old. From 6 months to 12 months, babies are supposed to start producing Adult Hemoglobin (HB A) which is produced from the combination of both alpha and beta chains. At the same time the gamma genes which produce the HB F start to switch off as Adult HB is enough and it is needed more by the body.  Therefore by the age of maximum 2 years you will not detect the presence of HB F in the human body cause the body has replaced it with the adult HB. So this is the normal cycle for any person.
 
In thalassemia patients, the story is different because the body can not produce adult HB (because there are no beta chains to combine with the alpha chains to produce the Adult HB). At this point,  the body wants to defend itself and want to help itself so the body ''remembers''that one day it had gamma genes that produced HB F, so the body starts switching on the gamma genes to produce this fetal HB to help the body to survive. That is how thal is diagnosed by the presence of HB F. Because in people that don't have thal, there is 0% of Fetal HB but in thal patients Fetal Hb is present and the test that diagnose it is called blood electrophoresis test OR HPLC. These tests detect the presence of every kind of HB in the body and its percentage in the blood.
 
Again in order to produce adult HB you need 4 alpha genes and two beta genes. In Beta thalassemia the two beta genes are both muted and therefore can not produce the beta chains. What differentiate  thal major from thal intemedia? Both thal major and intermedia have two muted beta genes but the difference is that, in intermedia the two muted genes are not severely muted so this means they still can produce ''little good hemoglobin'' that enables their bodies to function for a while without the need for transfusions ( that is why some thal intermedia  transfuse later in life because you had some ''good'' HB produced) While in major there is no Hb produced at all cause the genes are severly muted and that is why major starts transfusing when they are babies or they would die.
 
Role of hydroxy in intermedias:
 
Though it is used with cancer patients, it was found by coincidence that hydroxyurea switched on the gamma genes and this resulted in the increase of Fetal HB in patients so they started giving it in smaller amount s to thalassemia intermedia patients and found that it can help them (NOW it is also given to thal major to increase gaps beween transfusions and sometimes eliminate them)  It helped them by increasing the percentage of HB f and this resulted in the increase of the total HB and therefore eliminating transfusions. Humans can live, function and grow with Fetal HB. Although Adult HB is the best choice, Fetal HB will do the job too. So this is the relation between Fetal HB and hydroxyurea.
 
 
Usually The reaction to this medicine differs from a person to the other, some react positively from the first month of trying it and others takes a while that is why it is approved to give it a try up to 9 months in order to judge whether it will help the patient or not. Some patients don't react to it at all. The usage of hydroxy is safe in thalassemia patients because it is used in very small amounts compared to cancer patients and by the way, many trails are going on these days to produce another drug which will do the same thing but not a chemotherapy.
 
Theoretically, in order to know whether hydroxurea will benefit you or not, a test called Xmn polymorphism is made. If the result is positive,it means you will benefit and if it is negative this means you won't, but practically doctors found that some times patients with the negative result react very good to hydroxurea and their hb rises to the extent that they eliminate transfusion and there explanation to this is that sometimes there are other unknown factors that help the body to react positively and this resulted in that many doctors try hydroxurea any way  because each patient is completely a different case.
 
Hydroxy too helps to suppress the bone marrow and therefore eliminate pressure on the bones resulting in no deformity and pains.

The most important thing to do when you start it, is monitor the kidney and liver fuction in addition the WBCs count in order to make sure that you won't have any side effects. One  of the good things about hydroxy is that if it happenes that you get any side effect by chance, it will vainish as soon as you stop it.


As for L-carnitine, it should be taken by both thal major and intermedia for its great benefits. Find below the studies concerning the usage of L-carnitine in thalassemia. There are about 5 papers done on the usage of L- carnitine and thalassemia. They are all published in scientific journals.

Improvement of Cardiac Function in Thalassemia major Treated with L-Carnitine
http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract&ArtikelNr=76522&Ausgabe=229926&ProduktNr=223829

Assessment of Puberty in Relation to L-carnitine and Hormonal Replacement Therapy in {beta}-thalassemic Patients.
http://lib.bioinfo.pl/auth:El%20Beshlawy,A

Apoptosis in Thalassemia major Reduced by a Butyrate Derivative
http://content.karger.com/ProdukteDB/produkte.asp?Doi=87890


Diastolic Dysfunction and Pulmonary Hypertension in Sickle Cell Anemia: Is There a Role for L-Carnitine Treatment?
http://content.karger.com/ProdukteDB/produkte.asp?Doi=89472

Pulmonary hypertension in beta-thalassemia major and the role of L-carnitine therapy.
http://www.ncbi.nlm.nih.gov/pubmed/19065439?dopt=Abstract

 
L-carnitine is generally a safe substance that is found in every cell in our bodies, you can even find it in baby food like in this link
 
..........L-Carnitine, Taurine, Ascorbic Acid, Lo Han Extract, Vitamin D, Stevia Extract, Rutin, Vitamin K, d-alpha -tocopherolsuccinate, SunActive FE ® Iron as Ferrous Pyrophosphate, Niacinamide, Vitamin B5, Boron Chelate, Magnesium Chelate, Vitamin B6, Copper Chelate, Vitamin B2, Vitamin B1, Vitamin B12 as........
http://www.babyorganic.com/cart.php?target=product&product_id=16190&category_id=249

So this means it is safe
 
Hope this helps but please remember it must be taken only 5 days per week only. And the dose is 50mg per kilo


Hope this helps, feel free to ask what ever is not clear

manal

Hi Manal,

as you probably know, I'm intermediate and I'm taking Hydroxy plus Mag and L-carnitine.
Actually my dose for L-carnitine is 25mg/kg but I'm taking everyday (I only try to be off from Hydroxy sometimes).
Since my last blood results showed a reduced number of white blood cells and platelets I am considering to take L-carnitine as you told, just five days a week.
Do you think it's correct?
Thank you in advance.

Andy 

Hey andyross
Sorry for the late reply...how things are going now
Still on l-carnitine