Thalassemia major or intermedia

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Re: Thalassemia major or intermedia
« Reply #90 on: July 30, 2015, 03:47:46 PM »
namaskar Rajiv sir,
first of all my salute to you,
i am dr rajpal  singh, {bams, MSc Yoga[sch.]}, worked in patanjali hospital, Manesar gurgaon for 2 and half year.
new in this group, read all about your child and family.
i have got positive result in first case of thalassemia major,
it would m my pleasure if i can help you any.
you may contact me at
drrajpalsingh11@gmail.com
+91 7389252649

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Offline Rajiv

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Re: Thalassemia major or intermedia
« Reply #91 on: July 31, 2015, 12:47:34 AM »
Dear Sushil
Thanks a lot for your quick reply.
Regards

Re: Thalassemia major or intermedia
« Reply #92 on: August 03, 2015, 06:23:46 PM »
Hi everyone,
    My son is the same as Raj. He is 13 months and his HB is 10.5. He has plenty of energy and he eats well. His last test showed his A2 at 2 and his Fetal Hg at 98%. He is definitely Thal Major from the numbers. I just wonder if maybe he has one of the mutations that will help him to keep his Hb up. I hope so anyway. I have heard different things as to when to expect his fetal hg to drop. The doctors said at 6 months, but I read on here somewhere that it would be around 14 months. I am really afraid of what will happen when his fetal hg starts to drop. What can I expect? Will he get really sick or not. How will I know when it is happening? The doctor said just to look at his color and that should give me a good indication that his fetal hg is dropping. Can anyone tell me what to expect?

Thanks,
Lisa

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Offline Andy Battaglia

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  • Will thal rule you or will you rule thal?
Re: Thalassemia major or intermedia
« Reply #93 on: August 03, 2015, 11:37:04 PM »
Lisa,

Has a DNA analysis been done to look for the specific mutation? Sometimes patients do have certain types of deletions that are accompanied by high activity of the adjacent gamma gene, which causes production of HbF. There are patients with intermedia phenotypes who are beta zero, because they have a high production of HbF. In other cases, it just takes longer before the gamma gene becomes mostly inactive. Sometimes it just means delayed transfusions and sometimes it affects the approach to treatment. Even when it results in regular transfusions, but at a later date, it is preferred, as it also means chelation can be delayed until the child is a bit older and will have an easier time with the chelation drugs.
Andy

All we are saying is give thals a chance.

Re: Thalassemia major or intermedia
« Reply #94 on: August 07, 2015, 06:36:44 PM »
Thanks Andy,

    We did do another DNA test and we are waiting on the results. I think I should know on August 21st when we go back the specialist.

Thanks,
Lisa

 

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