Thalassemia major or intermedia

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #15 on: May 10, 2013, 03:07:12 PM »
Thank you so much Andy,
I will send you the Beta globin DNA report that probably I will get by Mon/Tue.  We are ready to face any eventuality.  Rest GOD will
decide the baby's fate.   The doctor also told that DNA fully can not determine the severity of the disease.  Like out of chromosome zone
some mutation related things happen that I could not understand and I did not take that seriously.  In your response your advice given
in last para (port) I could not understand.  I will be grateful if you please elaborate it.   At this time, the baby is on formula milk (with iron) because milk (without iron) is not easily available on all stores and its too costly also. He is also being given folic acid and vitamins drops. 
No other things are being given to the baby.  If there is any need for giving cereals or other supplement/food to the baby, kindly let us know.

Thanks,
best regards,

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Offline Andy Battaglia

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Re: Thalassemia major or intermedia
« Reply #16 on: May 10, 2013, 06:59:43 PM »
Hospitals will often push for a port to be surgically implanted in a child to facilitate transfusions. These are for their convenience and require surgery and pose a constant risk of infection. I would recommend that you be firm and tell them no when it is suggested.

Andy

All we are saying is give thals a chance.

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Offline JV

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Re: Thalassemia major or intermedia
« Reply #17 on: May 10, 2013, 07:57:29 PM »
100% agree with Andy, Do not go with the port!

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #18 on: May 10, 2013, 09:54:10 PM »
Thank you so much Andy
Actually I was not aware about this.  Now I got to this point and will make sure
denial of this when offered.  About any requisite supplement at this point of time when
baby is in his fifth month your advise is requested.

Thanks and regards,

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #19 on: June 07, 2013, 08:33:41 PM »
Dear Andy
Greetings from New York
Yesterday I went to doctor for monthly check-ups of my son.  His blood counts were okay.  We also got our DNA lab report for
alpha and beta globin which I have sent you through email.   Kindly have a look and let us know anything that you want to suggest
us for good health of the baby.
Rest next month he will turn six months and doctor will carryout electrophoresis test to know what type of blood the body is making.
As always we are grateful for the kind support provided by you and all the members.

Best regards,

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #20 on: June 08, 2013, 10:02:58 AM »
Dear Andy
Did you have a look at the reports? Do blood counts suggests anything abnormal or something that says his
blood counts is going down.   We are giving him colic acid.  Is his blood counts a result of taking folic acid?

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Offline Andy Battaglia

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Re: Thalassemia major or intermedia
« Reply #21 on: June 08, 2013, 05:20:38 PM »
The reports verify the previously known information about the two beta mutations found in the child. There is no evidence that either parent carries any alpha mutations, and the polymorphism found has no clinical significance.

The child's blood reports are still good, but it's still in the first 6 months and fetal hemoglobin from birth may still be a factor contributing to the total Hb level. After 6 months. a new electrophoresis can be done which will give a more accurate view of the percentages of the various hemoglobins. Right now. the most important thing is that both parents are bonding with the child and that the beginnings of a healthy diet are instituted.
Andy

All we are saying is give thals a chance.

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #22 on: June 10, 2013, 03:43:57 PM »
Thank you so much, Andy.
We really appreciate help and the support provided by you and by the members. 
Yes you are right the report tell the same things that you mentioned in your previous post.  The mutation are exactly belonging to what you told.  One mild one, belongs to me and other little more severe belongs to my wife.  The doctors told us that they will
do the electrophorus test in next months when the baby is turned six months.  Andy we are also planning to leave the thought of going through BMT as the research that are going today searching a permanent cure for this disease gives us a good hope for the future.  So its better not to take a chance/risk.   Further, so far we don't have a match also.  His elder brother is not a match.  We have not opted for HLA test .  I will let you know the electrophorus test result in next months and also I will seek advice required. 

Re: Thalassemia major or intermedia
« Reply #23 on: June 21, 2013, 08:01:15 PM »
The one report explains why the parents are tested, as the chromosomes the mutations are on in each parent will make a difference. The child is still so young that it is very difficult to predict from the current status. The parental DNA report will reveal more. As the report says "The genotype-phenotype correlations for beta globin mutations are complex." Often, waiting to see what happens is all that can be done. If the child's Hb holds at a decent level after 6 months, another electrophoresis is often done to get a clear picture.
I think much will depend on how much the C.-138 C>T mutation affects beta globin production.
 
Because there is a good possibility that the child will be transfusion dependent, the parents should prepare themselves for this event. Resist any suggestions that the child get a port, as this is mostly done for the convenience of the hospital staff and does pose risk of infection. 

Dear Friend,
I was reading your articles,  both of our situations are same, My son is having almost the same mutations.  Have you did Hb Electrophoresis for your baby.

I am also from INDIA - southern part, and also we don't have any family history.  but unfortunately my son is diagnosed with "Thalassemia Major" which is a very long journey with lot of patience required for both parents and patients.

I am confused, I have a plan to do "Bone Marrow Transpltation" for my son, but I don't find any match with my daughter and parents as well.

You can think about "BMT" or Cord Blood Cell transplant in future, dicuss with your doctor about this.

There is a hope for the "Gene therapy" in future.

Closely monitor your baby with a good Heamatology doctor, since you are in New York there a lot of good hospitals you will find.

one thal patient is different from another thal patient.

sys



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Offline Andy Battaglia

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Re: Thalassemia major or intermedia
« Reply #24 on: June 21, 2013, 11:55:20 PM »
Mother to child BMT's are becoming more common and are worth investigating. Our friends at www.curethalassemia.org just had a meeting at the Narayana Hrudayalaya/Mazumdar Shaw Cancer Centre, in Bangalore to begin their project of doing mother to child transplants. It is a possible option when there is no other match.
Andy

All we are saying is give thals a chance.

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #25 on: June 24, 2013, 04:31:48 PM »
Hello Sys
Sorry for delayed response.  Actually I could not see the post for quite some time. 
My son has been diagnosed as Beta thalassemia major based on the report.  He is appx six months old
and so far his hb level is good around 9 to 10.   By mid of next month his electrophoresis  is due and then
the doctor will get to know what type of hb, his body is making.  He is being regularly monitored for hb level.
We go to doctor every month for his regular check-ups.  His elder brother is not a match for BMT.  We are
yet to undergo for HLA test.   Please mail your contact details so that we could speak on phone also.

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #26 on: July 08, 2013, 08:30:13 PM »
Dear Andy,
My son turned six months on 28 June 2013.   So far his hb level is around 10.   Next appointment with the doctor is on 18 July 2013.
On that day they will carryout blood electrophoresis to check which type of hb his body is making.  Presently we give flood acid as
recommended by the doctor.  In addition to this, do you suggest any other supplement or medicine which will help him to make
enough hb and allow him to stay in good health.   Here we believe more on the advice of you and my other dear thalpal members.
Will be grateful for your advice.

Thanks,

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Offline Andy Battaglia

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Re: Thalassemia major or intermedia
« Reply #27 on: July 09, 2013, 03:04:40 AM »
At this age, I would recommend folic acid and 100 Iu natural vitamin E, as this is a potent antioxidant, which can help protect the body from the effects of hemolysis, which destroys red blood cells.
Andy

All we are saying is give thals a chance.

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #28 on: July 09, 2013, 02:25:06 PM »
Thank you so much Andy.
We will start it immediately.
Best regards,

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #29 on: July 24, 2013, 06:29:04 PM »
Dear Andy,
My son turned six months and 20 days on 18 July 2013.  As you all recommended we went for his electrophoresis.  The result of the blood sample collected
on 18 July 2013 is as follow :-
Hemoglobin A -   0  (at birth it was same 0)
Hemoglobin A2  - 1.9  (at birth it was 0)
Fetal Hemoglobin - 98.1  (at birth it was 100%)
Hemo interpretation is -  Hemoglobin F and A2 are present.  These findings are most often associated with beta thalassemia major, although other genotypes
such as deletional hereditary persistence of fetal hemoglobin (HPFH) in trans with beta thalassemia allele is not entirely excluded.  The presence of hemoglobin A
cannot be definitively demonstrated.   
So far his health, growth and appearance is okay.  Nothing seems abnormal.  Can you suggest what type of protocol we should consider in addition to giving folic acid
and tri vitamin (vit E) to the baby.   Suggestions and experience of friends who have faced the problems and guidance of Andy is much solicited. 
Thanks and best regards,

 

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