HbF Gene Variant Linked to Moderated symptoms of beta-thalassemia

Hi Hopefulmommy,

I know you're feeling upset by these results, as it is a quick drop in Hb. I don't know if it will level off, but you should prepare yourself for the possibility that she may need transfusions. If she does, always remember that it is the blood that gives her life and try to stay positive. It is ok to give her the wheatgrass shots but don't expect miracles. It does raise the Hb in some thals and sometimes there is no measurable effect on Hb but patients do report feeling better, having more energy and stronger immune systems. Nurse her as long as you can because it does much to build the immune system, which is crucial for thalassemics.

Every parent in this group has had to deal with these same emotions so please take support and help wherever it is offered. I can assure you that the initial shock will fade and you will find the strength to deal with things as they happen. It's what parents do. The outlook for thals is far better today than ever in the past and we are on the verge of a whole new era in terms of treatment and even a cure. The announcement yesterday about the use of gene therapy to reverse blindness is extremely encouraging because we now have proof that gene therapy works. It has cured thalassemia in animals and trials on humans are soon to begin. Stay hopeful for there is much reason for hope.

Hi,

My daughter had viral fever for 2days  so we were in hospital.
Now at 2 months  her blood work looks like this:

Hb:9.4
Hct:29
MCV: 76
MCH:33
RDW: 26

The haemtologist has said she might need transfusion after next CBC.

Does it look that my child is major and will need regular transfusions? The fact taht she had a viral fever an indicator that she could be a major?

She has been detected for Ebeta thal, with no HbA.

Plx let me know.

thnx and best regards.

The viral infection may be why the Hb dropped so quickly but the overall trend has been a constant drop in Hb. Coupled with the lack of any HbA, it does seem that transfusions will be likely.

Perspective is very important, so try to keep a good frame of mind regarding transfusions. If they are necessary, always remember that this blood is what will give your daughter a real chance at a normal life. The difference in behavior after transfusion compared to before transfusion will be a constant reminder of how much the blood does for your child.

Best wishes for your daughter.

Hi All,

Thank you Andy.

Last 3 days i noticed that my daughters lips and tongue are pale/whitish. Also sometimes I feel she is breathing heavily.

Does this happen or I am imagining?

She feeds and sleeps, and is active at other times, cooing and responding to us.
She also smiles often, quite oblivious of the silly haemoglobin state in her body!
I try not to feel sad seeing her.

I also wanted to find out if there is any iron free formula which I can keep for emergency?

thanks and regards

The pale color is most likely caused by the continuing drop in Hb, as is the heavy breathing, which indicates some oxygen depletion. This is seen prior to transfusion in most patients as their Hb drops. Transfusion puts the color back. I would have to agree with the hematologist that transfusion will soon be likely. Although this can be somewhat traumatic at first, when you see the benefits and her color and energy level return to normal, you will see why in some ways, parents and patients look forward to the "top off" or "fill up". It's not easy seeing the needle inserted, especially in young ones where veins are not as easily found, but as a parent, you will need to learn the mindset that transfusion brings life and is a good thing. Keeping a positive view of this procedure will also help her accept it as the norm as she grows older. Lisa felt this such a normal part of life that when she went to school as a young girl, she asked the other kids when they took blood, because it was so normal to her that she assumed all kids must do it. This attitude that she was no different from other kids allowed her to be just like them. Lisa played little league baseball on the same fields my own kids later played on. She led a normal life. Once transfusion is accepted as the norm, a child can have a normal life. Some kids get allergy shots and some get blood. It's just what some kids have to do and it doesn't have to make them any different. Your own acceptance of this will do much to shape her attitudes.

I'm not sure what you mean by a formula for emergencies. Do you mean a multivitamin?

Hi helpfulmommy,

When my son was little a lower iron formula was also available, there is an iron fortified formula and a regular formula with lower iron. 

the pale mouth may be an indicator that your daughter may need to be transfused soon.  I would have her hg checked soon - my son's hg at 2 months was fine - but at 3 months he was down to 4.4 which was probably not very good for him. 

Best of luck,

Sharmin

Hi,

Yeah I also could not find a iron free formula, if I need to give her when I cant nurse or when we go out sometimes. The paediatrician also could not find one. You are right Sharmin, all we can find is lower amounts of Iron in some baby formula.

I guess its ok to give low end iron formula sometimes, as I am sure mothers milk also has some iron in it
We do give her iron free multivitamin, though.

The Hb result came yesterday evening, its still above 8, so the doctors have delayed transfusion. But I can see how it is going down slowly. Yeah, the blood drawing is so traumatic everytime, I can imagine, how a transfusion would go. Everytime the nurse cant find a vein, goofs up, and then we call the specialist nurses ,who come with special light to search the veins.They are pretty good.I decided that next time onwards I'll ask for the specialist at the start.

thanks and best wishes.

I believe that in the US, you can get iron free formula but by prescription only.

@Hopefullmommy...

Sorry  I read your mail late.. I am now here in the USA ( New Jersey) and I have mailed you my contact no to your gmail ID..
Please do call me if you need any further information about Thal E.. which is very common among the bengalees... it is not as severe as beta Thal.. but most E thals will need transfusions sooner or later... and if the Hb is not stable.. and keeps fallling.. then, the child will need transfusions...
But I would be glad to talk to you... do give me a call.. I am here till the 14th June..
All the very best
Shikha