Help with new diagnosis for my three year old

Hi! I am new to this site but really could use some help. I have a 3 year old son who was diagnosed at age 1 1/2 with Beta Thalassemia Minor. I am very confused as the Hematologist stated he did not need follow up and there was nothing we should be concerned about. My son has a consistent HGB of 9.5 or less and often is very pale and sometimes unusually tired. He has also had one episode of syncope where he was unconscoius for several minutes and hospitalized after. His labs were not checked as the doctors felt it might have been a cardiac arrythmia, which may or may not have anything to do with his diagnosis of Beta Thalassemia Minor. His initial lab work which was done almost 2 years ago was as follows:
HGB 8.5
HCT27.3
MCV 60.1
MCH 19.6
RDW 17.9%
Plateltes 499
Neutrophils 25%
HGB A 83.1%
HGB a@4.6%
HGB F 12.3

All of his Iron studies were normal. Does this sound like Beta Thalassemai Minor and should we have follow up??

Thank you all for any help on this!!! 

Hi Mik,

It does look like beta minor, perhaps beta minor zero because of the low Hb and high HbF. Has he had a DNA analysis? It might be helpful to know his specific mutation or deletion, as his Hb is towards the low end of thal minor and his HbF is quite high.

No, he hasn't had a DNA analysis. The Hematologist diagnosed him from the lab values I had posted and stated no need for further follow up. When my son has his well checks or if he becomes ill, the lab work always shows a low HGB and the physicians reccomend iron. Does he need any further follow up or should I feel comfortable with knowing he has Beta Thalassemia Trait? 

Also, it is my understanding that Beta Thalassemia Minor zero is a complete deletion of the gene, is that right? Would that cause an increased concern?

Thanks for your help! I am trying to understand all of this and don't seem to have great resources in some of the physicians we have seen.
   

Hi Mik,

Yes, beta zero is either a complete deletion or a mutation that renders the gene useless. I suggest the possibility because his Hb is on the low end of the range for beta minor and also because his HbF is quite high for a minor, which also suggests the possibility of a complete deletion of one beta gene, as there are certain deletions that more or less "make room" for the gamma gene to function, resulting in higher levels of HbF. However, this is not certain as other factors such as hereditary persistence of fetal hemoglobin is sometimes also a factor that explains high HbF levels. I am also a bit confused about one thing. You said iron studies were normal, yet iron has been prescribed when his Hb is low. Unless he is truly iron deficient, iron should never be taken by a thal minor, especially one with a low Hb, as iron can build to harmful levels if taken when not needed, and also with a lower Hb the body naturally compensates by absorbing more iron from the diet, so caution is advised when taking iron.

Thanks for the information. Yes, the iron studies were normal when done by the Hematologist but we saw the Pediatrician last week who recommended iron supplementation for the low hemoglobin, and yes he is aware that my son has Thalassemia. It is something that I am aware of and will not give to him unless he is iron deficient. I think the Pediatrician does not have a full understanding of Thalassemia and therefore feels Iron will help. Do the Hematologist typically follow a patient with Beta Thalassemia Trait with at least yearly lab studies or is this not necessary? Should I ask for DNA testing to find out exactly what type my son has?

Giving iron to thal minors is a common mistake that doctors make. If iron studies are normal, iron is contraindicated because of the danger that long term iron supplementation poses, especially with a chronically low Hb. I would suggest a referral to a hematologist, as the pediatrician is most likely not experienced with thalassemia. If your insurance will cover a DNA test it would be worthwhile for now and also later in life. Because his HbF is high, it is likely that this can be further boosted, which should raise his total Hb a bit. Wheatgrass and resveratrol are often mentioned in this context as having properties that can raise HbF levels. Wheatgrass extract is easy to use and I recommend giving it at least a six month trial to see if his HbF level rises. This can be confirmed by a new electrophoresis test. Because his Hb is low and definitely puts him in the anemic category, efforts to raise the HbF level are highly recommended. I find wheatgrass also gives an immune system boost which is also important because those with anemia tend to have lowered immune systems. A nutritious diet with as little junk food as possible is also recommended.

Thank you for all of the information! I think we will go back to the Hematologist and ask for a DNA analysis for clarification. Am I understanding that due to the high level of HGB F, this is making his overall HGB higher, which is a good thing? Could the HGB F have been high because he is so young? At the time of the lab work, he was 2 years old. Thanks, again!

Yes, 12 % of his total Hb is HbF which means that over 1 point of his Hb is due to HbF. If not for this fetal hemoglobin production, his Hb would be dropping into a range that just is not very healthy for proper development. Anything you can do to encourage more HbF production is a good thing. The gene that produces fetal Hb is normally turned off after birth, but for many thals it does turn back on to help compensate for the low adult hemoglobin production. Proper nutrition that includes B vitamins, vitamin E and magnesium can also be very helpful in helping to build good red blood cells.