My 14 months old daughter has been diagnosed with Thal....Please help......

My daughter 14 months old has been recently diagnosed with Thal. Doctors are confused whether to consider it as thal mojor or thal intermedia. Her HbF is 93.8 %(indiactes thal major) but her Hb is 9.5.She does not show any signs of thal. She is very active,intellegent and energetic. Both parents(me and my wife are diagnosed as thal minor). We are shattered after hearing the news that our daughter is suffering from this disease. What should we interpret from this? Is it Thal Major or thal intermedia?Will she lead a normal healty life? will blood transfusions be required? Do we have any further tests to classify if it is mild,moderate or severe form of thalasemmia? I have also heard that if we can maintain her Hb to the same level chances of blood transfusion will be very less...Please suggest......

Hello puneetsaluja,

You will have to keep her blood counts in constant check to see what's going on with her.

Hb of 9.5 is pretty low but some Intermedias are able to sustain their Hb even at 6-7 g/dl. Some doctors will try not to transfuse Intermedias lest they make them transfusion dependant while on the other hand some doctors think that such low Hb can interfere with the normal growth of the child and start transfusions. It is a matter of your doctor's opinion what they decide for your baby.

In the mean time you can ask them to try the HbF inducing agents such as Hydroxyurea which has fairly good effect on Intermedias.

Hope that your baby will do fine and won't require blood transfusions.

Take care, Peace!

Your daughter is still quite young so it's hard to say for sure yet, but with an Hb over 9, she may be an intermedia and not major. I think it should be verified that both parents are beta minors. With your daughter's Hb level and fetal Hb %, it is worth checking to see if she might be HbE beta thal, which often is more like intermedia. Right now I would say things look very good because of her relatively high Hb for her age. Most majors have dropped to lower Hb levels by 14 months.

Thank You Mr. Andy. Me and wife have already been diagnosed as Thal Minor. 2 days back i have got her Hb checked again and it is found to be 8.8. But this Hb check was done from a different laboratory. I have 3 questions now

1) Can the results vary from Lab to lab?
2) Last time the lab people took 1 ml blood on 11-May-2007 but this time(1-June-2007) the blood was taken from finger tip.Can the results also vary because of this?
3) Is it practically possible that Hb may fall from 9.5 to 8.8 in just 20 days time?Keeping in mind that Hb was 9.5 till 11-May-2007.

Different factors can affect Hb readings, including the lab and also the hydration of the patient (the less hydrated, the higher the Hb reading will be, because there will be less liquid in the blood. Hb can also drop that amount in less time, so the drop is not unusual. Even a mild infection can cause a drop. What is important now is to continue to watch the Hb levels. 8.8 is still far above the level where transfusions would be recommended. I do not think the results should vary because of the body location where the blood is taken but perhaps some others can shed some light on this.

"8.8 is still far above the level where transfusions would be recommended"....Is this phrase correct??? It should be not recommended...If I am not wrong...

The phrase is correct. Transfusions would not be recommended at an Hb level that is this high. If the child is intermedia, transfusions may be recommended if the HB drops below 7 and stays at that low level, but this would also depend on how well the child is doing physically at that Hb. 6 is the lowest level acceptable without transfusing.

Hi puneetsaluja,

The concept of keeping Hb above 10 or in normal range is once your child is classified as Thal. Major and you know that he is going to be transfusion dependant for the rest of his life.

Intermedias usually maintain their Hb around 6-7 mark, so if your child is Intermedia and you transfuse him at 8 or 9 then how will you know if he is Intermedia or not? As a matter of fact you will make him transfusion dependant and this is what happens to most Intermedias in the Sub continent and they get misdiagnosed as Thal. Major and make them transfusion dependant for the rest of their life!

I sure hope your child maintains the HB, so that you can rule out transfusions.

Take care, Peace!

Intermedias usually maintain their Hb around 6-7 mark, so if your child is Intermedia and you transfuse him at 8 or 9 then how will you know if he is Intermedia or not? As a matter of fact you will make him transfusion dependant and this is what happens to most Intermedias in the Sub continent and they get misdiagnosed as Thal. Major and make them transfusion dependant for the rest of their life!

I totally agree with Sajid, bcoz this is what happened with my daughter,she was diagnosed at age of three, with her hb 6gm,definitely an intermedia,but was said a major and now is transfusion dependent,goes for transfusion once a month,though i do wonder sometimes that what would happen if we won't transfuse her for a couple of months to see if she can maintain hb of 6-7,but i am afraid to do any experimenting.

ZAINI.

Doctors has advised to start blood transfusion when her hb falls below 7. As on 8th June her Hb was 8.1(It was 9.5 as on 11-May-2007). Further, her mutuation results : Polymorphism is(-/+).Doctor says if it would have been (+/+), we could have tried Hydroxrea but since it is (-/+) doctor will only prescribe if we sign a consent. There might be side effect of the medicine. I am confused as what to do???Can ayone please help??



Regards

Puneet

Her Hb on 11-May-2007 was 9.5 but on 8-June it has fallen down to 8.1. Doctors have asked to get it checked again after 3 weeks. The rate by which it has fallen down indicates Thal Major.


Mutations are : IVS1-5/IVS1-1

AND

Polymorphism (-/+)

Doctor further says if polymorphism would have been (+/+) then we could have tried Hydroxea but since it is (-/+),it will be a risk to try hydroxea. And we want to try it will be at our own risk and we need to sign consent before doctor prescribes this in writing.

Can anyone please comment on this?

Warm regards
Puneet

Hi All,

Her Hb has increased from 8.1 (on 8-June) to 9.0(23-June). I have kept her on wheat grass juice therapy from last one month.Earlier it was 9.5 (as on 11-may).I do not know if it is natural or wheat grass has started doing wonders.

Can anyone comment on this? I think she is intermedia only and NOT major.What do u say?

Puneet

Hi Puneet,

Wheat grass has proven to induce fetal Hb. in Intermedias. It is good to know that it is working on your daughter.

I hope you are able to avoid transfusions with this safe and natural alternative.

Best wishes.

Hi puneetsaluja
and evrybody
                   
am so sorry to hear that your doughter have thalass. and i'll pray for her .....
          first ful don't be shock and keep some faith you and your wife ,, i have same feeling that you got it when you hear that your doughter have thalass. i know how big shock is't and belive me i don't know any thing a bout thallas. even my wife and we start make some search and asking as you do now ...my son he is now 11and half is diagnosed  as thalass. intermidea for 3 years he never recive any blood and his HBF was 98% everything show that he is intermidea but he got some flue and high tempreature that make his HB go from 9.5 up to 7.0 from that day we start transfusion the blood every month ..
           I pray to the GOD to treat him and show me with good guid to the best treatment  after 4 years i got a present from the GOD that is my second baby and she is a girl and she is 100% match with her brother after 2 years i made a BMT in italy but no succeful (2003) after that we made another BMT but with PBSC (PREPHERAL BLOOD STEM CELLS) (2005) and the new BM is workingok nows but with some problem like low imunety and some GVHD and all that will go soon (inshallah) with some drug like medrol and some kind of antybiotic ..
          So now what am going to say i know what do u feel but don't loose HOPE ...
 
                                            khalifa
                                    state of kuwait
                           ONE FOR ALL AND ALL FOR ONE   

Hi Puneet,

It is interesting that your daughter's Hb has risen so quickly. It may very well be a result of the wheatgrass. Some patients respond much better to wheatgrass than others, and even majors can benefit from it, especially if their Hb regularly falls to levels of 8-10. There are unknown factors at work in some thals that result in a higher production of fetal hemoglobin. It may be that substances such as wheatgrass work better in these patients because there is already some HbF raising factor at work.

From a study concerning this difference in HbF production among similar thals

http://researchresources.bumc.bu.edu/abstract/5R01DK069646-02.htm

Thalassemias are man's most common Mendelian trait. Severe beta-thalassemia results from compound heterozygosity or homozygosity for mutations that abolish or impair beta-globin gene expression. The disease severity varies considerably, even among those with identical beta-thalassemia mutations and when known epistatic genetic factors, such as alpha-thalassemia, are considered. Most of this heterogeneity can be linked to the capacity to produce HbF. We hypothesize that there is genetic variation in cis-acting elements and trans-acting factors implicated in gamma-globin gene expression, in modulation of HbF concentration within erythrocytes, and in regulation of erythroid cell differentiation and proliferation. We wish to identify these genetic variations.

Studies like this may eventually explain some of these mysteries involved with the reasons for severity of thal, when all other factors seem equal.

There are factors besides the thal mutations that effect the severity of thal, so the mutations alone do not give the entire picture. Another child with the same mutations as your daughter might exhibit a much different thalassemia than your daughter. Time will tell, and if wheatgrass helps her, then do keep giving it to her. I take wheatgrass extract daily and I do think it gives me a higher energy level.

It is still too early to make any judgments about your daughter's future but there is reason for some  optimism.