Heterozygous IVS 1.5(G-C) & -136 (C-G) Beta globin gene detected

Sys,

Your own HPLC reading comes only to 91% total. Your wife's shows a small amount of HbS (sickle cell). That is strange to see here and may be an error. These results are peculiar. Where were these tests done? A proper DNA analysis should determine if there are any silent variants. In fact, a proper HPLC should show if there are any small quantities of variant hemoglobin present. The DNA analysis should sort this out.

You have to be the judge regarding your son's health. Is he healthy and active at his current Hb level? If so, then transfusions may be avoided. If he is lethargic with slow growth, transfusions would be indicated.

I hope the gene sequencing reveals what is needed. Until we know what the TWO mutations are, instead of only one, there is nothing more I can comment.

Dear Andy,

Please I need your urgent advise on this below subject :

Once again we had crossed three months gap from the transfusion.

Doctor's Recommenation :

* According to treating doctor, he has lot of patients maintaining their Hb level from 6% ~ 8% g/dl and living normal lives?

* They want to avoid transfusion if his Hb level is maintained above 6%~8% g/dl and RET within some range like >4% ~10%? For this reason the following Hb status on weekly basis has been tested :

* On: 07-12-2011 – Hb Level: 10.7% g/dl (Note : Transfusion given on 24-11-2011-200ml)
* On: 21-12-2011 – Hb Level: 11.5% g/dl.
* On: 03-01-2012 – Hb Level: 7.1% g/dl.
* On: 11-01-2012 – Hb Level: 6.4% g/dl - RET: 2.41%
* On: 16-01-2012 – Hb Level: 6.0% g/dl.
* On: 19-01-2012 – Hb Level: 6.3%g/dl.
* On: 25-01-2012 – Hb Level: 6.5% g/dl - RET: 4.21%
* On: 07-02-2012 -  Hb Level : 7.5% g/dl - RET : 4.84%
* On: 21-02-2012 -  Hb Level : 4% g/dl - RET : 5.47%
* On: 22-02-2012 - Hb Level : 4% g/dl - RET : 8%

* His growth looks OK but weight is now 8.4 Kg @ his current age : 17th Month.

* Beta Globin gene sequencing test reveals once again : IVS 1.5 (G-C), there is no other mutation detected.
* there are some RBC membrane damage which transfer from Mother side.

* According to Indian doctor’s advice, I have to maintain his Hb above 9% for the better quality of life even though he is Thalassemia Intermediate.

Your valuable comments will be highly appreciated.

With regards,
Sys

Sys,

The hemoglobin level has followed the path of thal intermedia, although the current Hb would classify the child as thal major. Regardless, the child must begin transfusions, as this is a dangerously low Hb level. Any further drop (<4) could cause the child to fall into a coma. Transfusions should begin with a goal of 9 as the minimum pre-transfusion Hb level. This is necessary to provide proper growth and development, along with a proper quality of life, as the doctor has stated.

I would say because of the one reading the mother had that showed a small percentage of HbS, that there is a second gene mutation that has not been diagnosed (perhaps sickle cell or a type of HbC that that resembles sickle cell in its manifestation, or another moderating gene that is preventing the second beta gene from properly functioning).

I wish I had a more positive report for you, but at this point, the phenotype, or actual physical condition must take precedence over any speculation about why.

Sys,

The hemoglobin level has followed the path of thal intermedia, although the current Hb would classify the child as thal major. Regardless, the child must begin transfusions, as this is a dangerously low Hb level. Any further drop (<4) could cause the child to fall into a coma. Transfusions should begin with a goal of 9 as the minimum pre-transfusion Hb level. This is necessary to provide proper growth and development, along with a proper quality of life, as the doctor has stated.

I would say because of the one reading the mother had that showed a small percentage of HbS, that there is a second gene mutation that has not been diagnosed (perhaps sickle cell or a type of HbC that that resembles sickle cell in its manifestation, or another moderating gene that is preventing the second beta gene from properly functioning).

I wish I had a more positive report for you, but at this point, the phenotype, or actual physical condition must take precedence over any speculation about why.