Discussion Forums > Thalassemia Major

Kind of Thalassemia

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Budi:
Hi Andy,

I have a question, could gene of thal intermedia patients mute/change to become thal major? Do you have information about this and happen to know this case is even real? HOw much percentage is if this happen in thal intermedia?

Thanks a lot.

Best regards,
Budi

Manal:
Hi Budi
Both thal major and intermedia have two muted genes ( one from the mother and the other from the father). The difference between thal intermedia and major is a clinical difference which is the need for transfusion.

Thal intermedia don't transfuse or transfuse later in life because their genes are not severly muted as in the case of thal major who usually transfuse in the first year of their lives.

So once a thal intermedia patient start regular transfusion, he/she is classified as thal major

Please feel free to ask
Manal

Budi:
Hi Manal,

Many thanks for your explanation. I guess my son's HB is ranging between 7 and 8.5 and droping to 6.8 when he get sick such as cold, cough and fever.

I read in your posts that your son is taking Hydrea and his HB level is around 8, so how much effective is it to increase HB? Can it add up HB level up to 2 point? I think the use of Hydrea for thalaseemic in Indonesia is very rare, except for curing other iilness such as Leukimia.

I also have other question regarding your son, with an HB of 8, is his energy level sufficient to support his daily activities? Does he get symptoms such as  faster heart beat, faster breathe, fatigue, etc? Because as far as i know, even thal minors can have those kind of symptoms throughout their lives.

Really appreciate for your responses.

Best regards,
Budi

Manal:
Hi Budi,

You are welcome  :biggrin
Actually my son hb is around 7 to 7.5 with the hydra. Though the hydra didn't raise his hb too much but I still believe that any intermedia patient should give it a try.

Usually before starting hydra, you should do an electrophoresis to know the percentage of fetal hb and then compare this percentage after the usage of hydra to know if it is effective in increasing the fetal hb or not.

The increase of the fetal hb is a sign that the hydra is working. Hydrea can be effective just after usage or it could take a year or more but it reaches it's maximum effect in the second and third year of usage.

Hydrea also has other benefits such as suppressing the bone marrow and therefore decreases the pressure on the bones and therefore decreasing any bone deformity. Also it is effective in reducing the size of spleen and directs the body's energy to growth. I feel that my son is more active with hydrea and his appetite too is much better. One important thing hydrea does too, is that they decrease the presence of the free alpha chains that represents an oxidative stress on the body. This happenes because hydrea permits the formation of gamma chains that combine with these alpha chains forming the fetal hb that when increased, can increase the total hb up to 2 grams as you have mentioned

As for the activity of my son, I think that his body has adapted living on low hb. But actually I don't know if
this is going to continue or not but let's hope for this. Definetly he has palpitation because of the anemia and
definetly he gets tired when doing bif effort but actually no one will recognize any difference in terms of
 activity when compared to other kids.

Manal

aus:
I think the thalassemia patient gets use to the level his/her hb to a certain extend. My son, at 7.8 would be very pale and feeling dizzy. However, if left at 7.8 for a week, he would be all right to do most things. Except that, he is a thal major and if it drops to 7.8, it means it will drop further. He started transfusion at 11 months old and his hb was 5.3. He was adopted and his condition was not known to us until he was taken for a checkup due to other illness. He was saved in the nick of time. A very scary thought, in hind sight.

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