My son has been diagnosed with Thalassemia intermedia....Please help

Big Thank you again

My wife's DNA results have come back normal. So How can my son have thal Intermidia when only I have thal trait?? My wife's blood has now been tested 3 times and now the DNA result and none of these show that my wife has any sort of trait. The hemotologist said he would like to do more blood tests on all 3 of us now as DNA test he said can be inaccurate. Is this true??

My son has been having pink patches of blood in his nappies and could this be the internal bleeding causing his Hb to be low and a the reason for diagnosis of Thal intermidia??

Please let me know what you all think.
Thank you.
Manoj

Hello Manoj

Was the DNA test made for your wife testing Beta globin chains only or was it testing all HB disorders?
I am asking this because She may not have a beta thal trait, she could have another trait of blood disorder ( like alpha, HB H,....etc) that when combined with your trait, the outcome is an intermedia.

Concerning the blood patches, i actually don't have any idea, but i hope it won't be serious. What did the hema. said about them???

Manal

Hi Manoj,

Have you told the doctor about the blood in his nappies? If not, please do so immediately. The cause needs to be found. If it is internal bleeding he would be anemic.

DNA testing will not always easily show all thal mutations, alpha thal being a prime example of this. Some of the other hemoglobin traits like HbE and Lepore trait should also be considered. And there is also the possibility of thal beta zero trait which sometimes leads to intermedia. Further testing is the norm in this situation.

I believe this DNA test was to detemine Alpha traits. My wife definately does not have any beta traits (results of 3 blodd tests).

My sons blood in his nappy does not seem to be a major issue as its only sometimes and its very little. His kidneys  have been checked via ultrasound and they too seem ok. This issue is being checked at present but I just thought that could it be this issue thats making his Hb low and that this is making his diagnosis as Thal intermidia and so i though I ask the question here.

I will see the Hemetologist tomorrow and will bring this point to his attention again. I have mentioned this before but he did not take much notice of this point.

I am just wondering if we are barking up the wrong tree as my wife's blood tests keep coming clear. Is it true that my son cannot have Thal intermidia if only I have Thal trait??

Regards.
Manoj

My daughter 14 months old has been recently diagnosed with Thal. Doctors are confused whether to consider it as thal mojor or thal intermedia. Her HbF is 93.8 %(indiactes thal major) but her Hb is 9.5.She does not show any signs of thal. She is very active,intellegent and energetic. Both parents(me and my wife are diagnosed as thal minor). We are shattered after hearing the news that our daughter is suffering from this disease. What should we interpret from this? Is it Thal Major or thal intermedia?Will she lead a normal healty life? will blood transfusions be required? Do we have any further tests to classify if it is mild,moderate or severe form of thalasemmia? I have also heard that if we can maintain her Hb to the same level chances of blood transfusion will be very less...Please suggest......

 

HI, MY NAME IS HOPEFUL, MY SON IS 14 YEARS OLD AND CURRENTLY SUFFERING WITH THAL INTERMEDIA.  HIS PROBLEMS RANGE FROM SPLEEN TO GALL BLADDER, BUT HE IS OTHERWISE A VERY HEALTHY BOY.  HE HAS BEEN HOSPITALIZED SEVERAL FOR SPLEEN PROBLEMS AND WE ARE LOOKING TO HAVE IT REMOVED SOME TIME SOON.   ALL IN ALL HE IS HEALTHY.  HE HAD TO HAVE ONE BLOOD TRANSFUSION WHEN HE WAS 7, AND THE DOCTORS ARE THINKING OF GIVING HIM ANOTHER ONE.  HIS BLODD LEVEL IS AT A 6 NOW, AND HE IS CURRENTLY ON IRON AND FOLIC ACID TREATMENTS.  INJECTABLE IRON TWICE WEAKLY.  HE HAS LOST A CONSIDERABLE AMOUNT OF WEIGHT DUE TO LACK OF APPETITE BECAUSE OF THE IRON INJECTIONS.  HE HAS HAD SEVERAL BOUTS OF GALL BLADDER INFLAMATION IN THE PAST.  RIGHT NOW WE AREA JSUT CONCENTRATING ON THE HEMOGLOBIN.  AND THE BY THE WAY, WE LIVE IN BUENOS AIRES ARGENTINA, THANK YOUR LUCKY STARS YOU LIVE IN AMERICA, ALTHOUGH THIS COUNTRY HAS MILLIONS OF PEOPLE SUFFERING FROM THAL AND THAL MAJOR, IT IS A FAR CRY FROM THE TREATMENTS THAT OCULD BE RECIEVED IN THE STATES.  YOU HANG IN THERE.

Why is your son taking iron? Almost all thal intermedias suffer from iron overload. Has your son had iron studies done to confirm that he is iron deficient?

Hi hopeful,

Don't despair that you live in a country where medical facilities are not as good as everywhere else in the world. I live in Pakistan and we here have probably the same things going on with the system as in your country.

First of all you should be seeing a Thal. specialist so he can give you a proper treatment. If you can't find a Thal. specialist then at least take him to a hematologist rather than a general medicine practitioner (General Doctor).

Tell them to check your son's Serum Ferritin. If it is too high then IMMEDIATLEY STOP THE IRON. It is like a poison if the body gets overloaded with it and organs start to get damaged. The most probable reason for your son's spleen to malfunction could be Iron overload as the body absorbs more iron from the gut in low HB like 6 of your son plus you are giving him Iron shots as well.

As for the treatment; it will depend on your son's HB in the coming days. If it stabilizes around 6-7 like in most Intermedias, then the transfusions can be avoided and you can try the HbF inducers like Hydroxyurea, resveratrol or wheat grass etc. On the other hand if the Hb continues to drop then I guess there is no option left but to transfuse your son. You might also have to start the Iron chelation therapy if the Serum Ferritin test come out too high. In that case you will have to give him either Desferal injections or the oral pills like Exjade or Deferiprone etc

Wish you all the best for your son's health and stay hopeful.