heterozygous cap + 1 (A-C) mutation and thalassemia minor

Hi ....
I am new to this forum. My daughter who is 2 yrs and 4 mths
has recently been diagnosed as thalassemia intermedia since I
am heterozygous cap +1 (A-C) mutation and my husband is thalassemia
minor. My dsughter's hb is 7.2 and her s. Ferret is 61.2
She doesn't have any symptoms of anemia except of being pale.
She was randomly found out as an intermedia. My question is what are the chances
She will never need transfusion. I still have to show doctor her reports
He did tell us before we got my DNA report that she will never really need
Blood transfusions. We have already put her on folic acid 2.5 mg daily.
Her hb electropherosis is like this
HbA 64.9%
HbF 30.9%
HbA2 4.2%





 

Hi Asma,

The cap +1 (A-C) mutation is a silent mutation that when combined with other thal mutations in minors will produce a thal intermedia.
Her Hb is somewhat borderline right now and you do want to see it higher. Because of her high HbF% she may be a good candidate for fetal hemoglobin stimulation. This is done by using natural products like wheatgrass and the supplement resveratrol, and by use of the drug hydroxyurea. You should also establish good eating habits in her that rely on nutritious foods. A good multivitamin without iron would also be suggested at this age.

Only time will tell if she ever needs transfusion. I think diet and supplements can help her avoid that.

Thanks for your reply. Can u suggest a good healthy diet for her.
Unfortunatly she is a very picky eater. I also wanted to know if hydroxyurea has
any side effects.