Thalassemia Patients and Friends
Discussion Forums => Thalassemia Intermedia => Topic started by: khaled on September 21, 2008, 02:33:06 AM
-
hi
im a father of a boy 3.5 years recently diagnosed as thal. inter.
his DNA test shows homozygus ivs 1-6 t-->c
from my readings this is a mild form if heterozygus
in the case of homozygus can we expect a mild thal. inter.?
his hb done several times since birth it was ranging between 8.2-8.6
he is active but sometimes less than others in his age
he is pale and joundiced
thanks
-
I would expect that his intermedia will be less severe but that does not mean he won't need transfusions at some point. You describe him as pale and jaundiced. This is of concern and I think his physical development needs to be closely watched, as he may need transfusions to produce normal bone and organ development. Be aware that even if he doesn't transfuse regularly that there may be times that he does need some blood, due to illness or a drop in HB level. Accept this if it happens and you will be pleased at how much he improves after a transfusion.
He should be taking folic acid daily and you should consider other supplements, especially a daily multi vitamin and attempt to stabilize or even increase his hemoglobin level with wheatgrass etc. These natural methods work over long periods of time so be patient.
-
I would expect that his intermedia will be less severe but that does not mean he won't need transfusions at some point. You describe him as pale and jaundiced. This is of concern and I think his physical development needs to be closely watched, as he may need transfusions to produce normal bone and organ development. Be aware that even if he doesn't transfuse regularly that there may be times that he does need some blood, due to illness or a drop in HB level. Accept this if it happens and you will be pleased at how much he improves after a transfusion.
He should be taking folic acid daily and you should consider other supplements, especially a daily multi vitamin and attempt to stabilize or even increase his hemoglobin level with wheatgrass etc. These natural methods work over long periods of time so be patient.
thank you very much
i hope it will be mild as you said. i know that he may need blood transifusion, and i accept than, but i hope not :) or to be minimum :)
regarding natural methods like wheatgrass & resveratrol i will try it ASAP and i hope it will work.
today he is having mild gastroenteritis and became obviously pale and joundice, but he is active. im keeping eye on him.
thanks again
-
Hi Khaled
If he is maintaining at 8.6 without transfusions it is a good sign, then he has a relatively mild intermedia.
Please talk to your doctor about hydro oxy urea as well. It increases the foetal hb of the child and the hb goes up without immediate transfufion. AS it is these children have more foetal hb, hydro oxy urea boosts that. There is no harm in talking to the doctor about this medicine.
-
Hi Khaled
If he is maintaining at 8.6 without transfusions it is a good sign, then he has a relatively mild intermedia.
Please talk to your doctor about hydro oxy urea as well. It increases the foetal hb of the child and the hb goes up without immediate transfufion. AS it is these children have more foetal hb, hydro oxy urea boosts that. There is no harm in talking to the doctor about this medicine.
thank you for your comment
-
Hi Khaled
Did you talk to your Doctor aboiut Hydro oxy urea?
In S'pore Scientific Conference, Hydor oxy urea was discussed at length's and there are vey positive results of this. Children easily gain hb. Doctors from India, Lebanon and Greece all support this medicine. I think even in Malaysia it is being given. So do explore this option.
Regards
-
Hi Khaled
Did you talk to your Doctor aboiut Hydro oxy urea?
In S'pore Scientific Conference, Hydor oxy urea was discussed at length's and there are vey positive results of this. Children easily gain hb. Doctors from India, Lebanon and Greece all support this medicine. I think even in Malaysia it is being given. So do explore this option.
Regards
yesterday his doctor started him on hydroxyurea
i hope it will improve his hemoglobin
his hb was ranging from 8 to 8.5
today it is 7 "with the start of the treatment"
-
Please keep us informed of the progress. The full effect of hydroxyurea can take up to 2 years to be seen, so patience is necessary.
-
Please keep us informed of the progress. The full effect of hydroxyurea can take up to 2 years to be seen, so patience is necessary.
2 years :rolleyes
but regarding his hb now which is 7
when can we expect an improvement, any improvement, even mild, not the full effect
or at least can we expect hb will not fall? ???
thanks
-
2 years for full effect. You should see some positive changes within 3-6 months and continuing increases in Hb over the next 2 years if it is effective for your child. If you are using any other Hb inducers like wheatgrass, you can continue to use them with the hydroxyurea.
-
2 years for full effect. You should see some positive changes within 3-6 months and continuing increases in Hb over the next 2 years if it is effective for your child. If you are using any other Hb inducers like wheatgrass, you can continue to use them with the hydroxyurea.
thank you
i will keep you informed with any progress
-
an update
now after one month with hydroxyurea hb is 6.9
one month back just before hydroxyurea it was 7
i know it needs time
-
Hi Khaled
The difference between the two reading is negligable and you can consider them the same. In my expierence, it took my child four months to increase half a gram and hydrea could be given up to 9 months for a trail.
Did you see any change in the MCV of your son before or after using the hydrea, usually the change start in the MCV readings.
Please keep us updated and by the way you need to check the liver and kidney functions when starting the hydroxurea.
manal
-
Ok, this beginner needs more explanation. What means this: homozygus IVS 1-6 T-->C ? :dunno
-
Hi Peartree
This is the name of the mutation in the beta globin chain. Usually this kind of mutation causes thal intermedia, the severity of anemia also depends on the other mutation as well as othe rfactors in the body
http://www3.interscience.wiley.com/journal/112700713/abstract?CRETRY=1&SRETRY=0
Among individuals of Mediterranean or Middle Eastern descent, the IVS-I-6 (TC) mutation is one of the most common causes of -thalassemia. In this report, we describe the clinical phenotypes of a group of -thalassemia patients who are compound heterozygotes for the relatively mild IVS-I-6 (TC) -thalassemia mutation and more severe +- or °-thalassemia mutations. Although most of these patients are transfusion-dependent, the requirement for regular transfusions generally occurred late in childhood. A correlation between concomitant -thalassemia and a mild transfusion-independent phenotype is not apparent, indicating the involvement of other ameliorating determinants.
hope this helps
manal
-
recent updates
during last few months hb became v. low
lowest 5.7 average around 6 or 6.5
so his doctor started blood transfusion
now last week it was his third blood transfusion
the doctor stopped hydroxyurea "bec. it is not effective"
and ask us "parents" and other son and doughter to do investigations to see if any one is compatible for bone marrow transplant
what are your comments?
-
Get the others tested to see if they are a match. There's no point in even considering a BMT unless you know there is a match. How often does he need transfusions?
-
we will next week
transfusion started recently
the doctor said every 2 weeks we will do CBC to see the hb and how frequent he will need transfusion
-
the others you mean parents and siblings?
or other relatives e.g. cousins, uncles?
-
"...ask us "parents" and other son and doughter " Get the other children tested. Other relatives are unlikely to be matches.
-
i hope one of us will match
thanks
-
How is your child doing Khaled? Has testing be done?
-
thank you for asking
it came positive with his sister
now he needs transfusion every 3 to 4 weeks
they said this center is one of the best for BMT:
Mediterranean Institute of Hematology, International Center for Transplantation in Thalassemia
Roma, Italy
what is your opinion?
BMT is really very scary ???
-
The centers in Rome and Pesaro, Italy are two of the best BMT centers on earth. Their success rate is very high and they are the most experienced centers.
-
Good luck wit hdeciding with the best step is for your child. You can any question here. There are more parents who went on this journey.
-
thank you all
here in Kuwait they started BMT recently 2 months ago & only done for 2 patients
but the doctor who is responsible is doctor Javid Gaziev from Italy
in your opinion
shall we do it her in Kuwait or Italy better?
thanks
-
is this is the center?
http://www.ptvonline.it/default.asp
-
recent updates
during last few months hb became v. low
lowest 5.7 average around 6 or 6.5
so his doctor started blood transfusion
now last week it was his third blood transfusion
the doctor stopped hydroxyurea "bec. it is not effective"
and ask us "parents" and other son and doughter to do investigations to see if any one is compatible for bone marrow transplant
what are your comments?
Hi,
Dear,
I was reading your posts, It looks my son following the same path...he is diagnosed very early in his age : 10th moonth onwards, He is "Heterozygous IVS 1-5 G-C mutation. his Hb ranging between 6~11.5% and twice he is on 4% g/dl when he become sick.
We are very confused and still could not able to decide to keep him on regular transfusion or not. Doctor wants to avoid transfusion at this age.
I would request if you can share with the Hb Electrophoresis results(values) of your son if possible.
Sys