Discussion Forums > Thalassemia Major

Miracle?

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Christine Mary:
Hi Zadhki!

Yes I am estatic for the obivious.... but also b/c her dr.s were almost positive at the rate she was dropping she would've needed a tx 2 months ago. She goes in  around 3 week intervals.

at birth: 16
8 days:13.3
3 weeks:10.3
1 1/2 months:9.9
2 1/2 months:9
3 months:9.2

So you see, it looked like she was dropping .3 decimals every 3 weeks or so. I think knowing her exact mutations is essential in her diagnosis. But if you think about it, if shes going to exude all of the thal major symptoms, then treat her like a major? Of course Only when her hgb is low enough to tx.

Can you explain how her heart rate improved that much from jumping just .2 decimals?

Andy, Can you shed some light on this whole situation??? What do you think this is an indicator of?


Thanks

Christine

Sharmin:
Hi Christine,

Every thal patient is unique and presents differently.  In the first 2 months my son's hemoglobin was perfect (due to fetal hemoglobin) but at 3 months his hemoglobin had fallen to 44.  Only his pediatrician will know for sure, and I can only hope that it is true - maybe your daughter's thalassemia will be less severe.  I've also heard that there are some people who (for some reason) produce fetal hemoglobin their whole lives and live very normal lives.  This is however very rare, and I can't be sure what is going on with your daughter.  Let's hope that her thalassemia is less severe and that she will need fewer transfusions and therefore less problems with iron.  Could it be possible that she may have alpha trait as well which may make her  thal less severe?  For all of these reasons I personally would recommend a DNA test so that she gets the best treatment possible and so that you are not left guessing.  It can be emotionally draining trying to figure this out blood test to blood test.  These emotional highs and lows can be tough on you, especially if she were to maintain her hg for a while only for her fetal hemoglobin to taper off, yielding a lower hemoglobin sometime in the future and dissappointing you.  Of course, this may not be the case - but getting a dna test would take the guess work out of this and prepare you for what to expect.  To me it sounds like your child's thal is less severe, in my personal experience, although my son had a great apetite and was very alert at 3 months - he began to look quite pale, had a slightly enlarged spleen and very low hemoglobin.  Take this as a good sign and get that DNA test!  All the best!  and happy Thanksgiving.  Sharmin :hug

Andy Battaglia:
Hi Christine,

As Canadian Family said, it is normal for the HB to stay at acceptable levels at this point. Many thals don't need transfusions before the 6-9 month period. I agree that transfusion should only be started when the Hb has dropped (the accepted level may vary from place to place) to the 6-8 range and shows no sign of leveling off. As has been stated here before, something as simple as the hydration level can affect Hb readings. Even though there has been some slight variation in the readings it isn't a large change and indicates that the HB has temporarily reached this range. I've seen nothing in her case that suggests she will need early transfusion. Many factors affect the heartbeat, excitement and sodium or hydration level can also be a factor,  and the higher beat may not have even been Hb related. I doubt the slight change in Hb is why the heartbeat slowed. And as others have suggested, the later manifestation of symptoms may indicate that Lauryn's thal is not on the severe end of major. Since the major distinction of intermedia from major is an ability to maintain a low Hb level, but high enough to sustain a minimum of health, it may some months before you know for sure. Please do ask the doctors if they can tell for sure if it is major or intermedia at this point.

I think all we can tell now is that things are going normally. Her Hb is high enough to sustain her health and growth at the moment but signs of thal symptoms often only begin to first show around six months. Most people I have talked to first found out about their child's thal from the symptoms. You are lucky to be in one of the 42 US states that check for hemoglobin disorders at birth. I know it's not lucky to find out your child is thal but the earlier it is known, the earlier treatments will be started, resulting in normal growth. I cannot not emphasize enough what a difference this makes for the child, especially in terms of skeletal development. Even delaying treatment until age two can result in deformities. When you talk to parents in countries where diagnosis usually comes after some damage has already been done and where care is basic at best, you will start to realize that your daughter is indeed very fortunate to have been born in a county where thal is found early and treated as soon as necessary.

Zadkhi:

--- Quote from: Christine27 on November 25, 2006, 03:21:46 PM ---Hi Zadhki!

Yes I am estatic for the obivious.... but also b/c her dr.s were almost positive at the rate she was dropping she would've needed a tx 2 months ago. She goes in  around 3 week intervals.

at birth: 16
8 days:13.3
3 weeks:10.3
1 1/2 months:9.9
2 1/2 months:9
3 months:9.2

So you see, it looked like she was dropping .3 decimals every 3 weeks or so. I think knowing her exact mutations is essential in her diagnosis. But if you think about it, if shes going to exude all of the thal major symptoms, then treat her like a major? Of course Only when her hgb is low enough to tx.

Can you explain how her heart rate improved that much from jumping just .2 decimals?

Andy, Can you shed some light on this whole situation??? What do you think this is an indicator of?


Thanks

Christine

--- End quote ---

Hi Christine!  :)

Something that I have never quite understood about the types of thalassemia is exactly where the symptoms come from. 

Do they come from the low(er) hemoglobin alone?  Are they a result of a certain deleted or dysfunctional gene - eg: two people have a Hg level of 8 and have different symptoms - is it because one has Intermedia and the other one has HgH or HgH Constant Spring?

If the symptoms are only a matter of Hg levels, then I can see how doctors might think additional DNA typing would be unnecessary because all they have to do to predict the course of a thal's thalassemia would be to compare it to those who share the same Hg levels and the same general type of thal.

To me, it is a foolish way to try and predict and treat thal because as we all know, even in each division of thal, there are variants, and where one can make an educated guess based off of something similar, it isn't fair to compare a granny smith apple to a fuji apple and say that they're exactly alike.

Now exactly whether the different gene deletions affect HOW the symptoms manifest and WHAT they are versus basing symptoms off of Hg levels... I really have no idea.

Bleh.  I think I just confused myself.  I guess this is something I should research more on, :huh but YES, I definitely think that genetic testing is useful in telling exactly what sort of mutations or deletions you have going on. 

:)

Anyhow, about the heartrate.

Heartrate can be affected by a lot of things - stress, illness, overexertion, etc.  Considering that a lower Hg level requires more work from the bone marrow and whatnot, I wouldn't be surprised if it also affected the heartrate as well?  Now that the Hg levels bumped up a bit, her body doesn't have to do -quite- as much work?

 :dunno

I can definitely tell you that when I was more anemic, I definitely had variations in my pulse and for the longest time as a child, I had a very rapid heartbeat.

Even now at 24, my heartrate is at 80-something and that is normal for me and my Hg levels are 7-8.

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