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Thalassemia Patients and Friends and thalpal Ā© A. Battaglia 2018





54724 Posts in 5800 Topics by 6030 Members
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A message for all  parents who are thals. Keeping your iron load under control is an absolute obligation to your children.
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Author Topic: I need help please for my 4 yo son ... Is this thalassemia?!!  (Read 687 times)
Matthew2013
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« on: January 25, 2018, 12:00:12 PM »

My son is 4 years old.. We knew he has some kind of anemia since he was one but we recently went to hematologist and he did some lab works but he didn't get back to us yet... Here is is lab works;
RBC 5.95
Hgb 10.6 the lowest reading he had before was 9.8
MCV 58
MCH 18
MCHC 30.6
RDW 17.8
Ferritin 29 and iron saturation is 20% (it was 10% in December)
Serum iron 73
Hgb A 98
Hgb A2 2
Hgb F 0
Now we r waiting for his DNA testing... But I need any one experienced here help.... What does my son exactly have?!!! The dr was thinking beta thalassemia trait?!!! But his hgb A2 is low normal so what do u think?!!! Thanks in advance
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Matthew2013
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« Reply #1 on: January 28, 2018, 01:16:46 PM »

Pleaseeee any help 
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Andy Battaglia
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« Reply #2 on: January 30, 2018, 07:20:41 PM »

I think DNA testing for alpha thalassemia is needed, if not already done. It wouldn't be beta minor with the HbA2 so low, but it could be alpha minor with the MCV low and RBC high. The rise in ferritin might mean that iron deficiency is also present and is being corrected, but the MCV is lower than typical for iron deficiency and the RBC is higher. It is within the realm of possibility that it is just iron deficiency but the numbers look more like alpha thal minor, and judging from the increased Hb and ferritin, iron is likely part of the problem. If it is determined to be alpha minor, folate supplements can also help raise the Hb level.
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Andy

All we are saying is give thals a chance.
Matthew2013
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« Reply #3 on: February 11, 2018, 05:44:47 PM »

Hi Andy
Thank you so much for ur response....
I just wanted to update about my sons condition.... His dr just called us with his tests result and said that his alpha globin sequencing test came back normal!!!!! So he wants him to go back for detailed alpha and beta tests that search for rare types of deletions and mutations.... And he sent us a letter stating that if this test also came back normal he might need more test including bone marrow aspiration:( what's ur opinion??! What could it be beside thalassemia trait?!! He also stated that his iron profile is normal.... It's so confusing...
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Andy Battaglia
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« Reply #4 on: February 11, 2018, 09:29:35 PM »

I wouldn't suggest anything until all the genetic testing is completed. Has the child ever been given folate supplements?
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Andy

All we are saying is give thals a chance.
Matthew2013
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« Reply #5 on: February 12, 2018, 12:45:22 PM »

No I have never given him folate supplements....
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octranspo9312
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« Reply #6 on: February 24, 2018, 09:57:29 PM »

No I have never given him folate supplements....

I recommend that you get his blood DNA tested. It sounds like he has alpha minor. This will be also good info to know, as he could have a child with HbH or major in the future.

Giving him folate supplements will help his bone marrow build more red cells. It won't fix the low MCV, but it will make the anemia very minimal.
« Last Edit: February 24, 2018, 10:09:37 PM by octranspo9312 » Logged
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