Saturday, April 25, 2009

Alpha Thalassemia Trait

Say that 5 times fast! As it turns out on top of Factor 5 I also have Alpha Thalassemia Trait.

Rewind 6 weeks ago when Brody got his Newborn screening back it showed some off levels in his iron that pointed to Alpha Thalassemia. I didn't think much about it because the doctor said it probably won't affect him during his lifetime except for the fact that he will show that he's aneimic if he has any blood work done. So at my 6 week check up with the OB I mentioned it to Dr. B who in turn wanted me tested for it.

She called last night to let me know that I have 2 gene deletions resulting in Alpha Thal trait.

A little info on Alpha Thal:
Alpha Thalassemia is a genetic disorder that affects your red blood cells. Hemoglobin is within your red blood cells and the hemoglobin is what carries oxygen throughout your body and to your organs. People who have Alpha Thalassemia produce less amounts of red blood cells, therefore less amount of hemoglobin. There are 4 types of Alpa Thallassemia:
If you have one missing gene then you are considered Alpha Thal silent and it doesn't affect your health or lifestyle.
If you have 2 missing genes then you are considered to have the Alpha Thal trait and you are simply a carrier that causes you to be slightly anemic throughout your life. This is not an iron deficient anemic so there is no need to take iron supplements.
If you have 3 missing genes then you are considered to have Hemoglobin H disease. This can be a little more serious and cause a greater anemia and reguire blood transfusions if the anemia cannot be controlled or in times of physical stress such as fever and illness.
If you have 4 missing genes you have Alpha Thalassemia Major which means your body cannot produce any hemoglobin. This results in death in the womb or shortly after birth. There are great advances however and if caught in the womb the baby can receive a blood transfusion before birth which can save their life if they can survive the tranfusion in utero. But even then, they have to have monthly blood transfusion and life long care. They usually don't live past age 10.

A little knowledge of genetics:
When you are conceived you receive 2 genes from your mother and 2 genes from your father. So in order to have Hemoglobin H or Alpha Thal major both parents must have Alpha Thalassemia. Even then you have a 25% chance of inheriting each type of Alpha Thalassemia based on if you get one or two affected genes from mother or father.

So the next step is to get Brandon tested. If he doesn't have Alpha Thalassemia then we know that Brody will be either a silent carrier or be like me and have Alpha Thalassemia Trait. But if Brandon does have it then we have to get Brody tested to rule out Hemoglobin H disease. Obviously, he doesn't have the Alpha Thal Major or he wouldn't be here. Also if Brandon has it then we have to go to genetic counseling to see what the future would hold for us and future children.

So that's it in a nutshell. I'm still researching and dissecting my thoughts regarding this. I just got comfortable with the fact that I have Factor 5 and getting off all the blood thinners and trying not to worry about clotting but now I was thrown this...Urgh

It definitely makes me appreciate God's gift even more and shows what a miracle this little guy really is. He's had so many cards stacked against him already because of mommy's messed up blood! I just pray he doesn't have Factor 5 or any other weird thing that I might have passed along to him :(

Love,
LeAnn

22 comments:

Anonymous said...

I'm sorry to hear about all of that. I'll be praying that Brandon does not have it as well and that Brody and any future children will all be ok.

I know it always seems like things are going wrong or that you're getting bad news but God definitely doesn't give you anymore than you can handle.

Love,
Stacy

Ashley said...

I hope the tests will show that Brandon is not a carrier and Brody does not have a chance of having Hemoglobin H Disease.

Sorry you are having to go through this.

Blankenship Babbles said...

You poor thing, you are being hit from every direction with this blood stuff...from going from NOT having Factor V to HAVING it...then from all you had to deal with during pregnancy, and then NOW THIS....UGH...Don't get defeated...We are all praying that Brandon is not a carrier and none of the genetic testing is a worry...hang in there girl!!!

Love - Mandy

Anonymous said...

Here is one schedule. You can goggle vaccine schedules and see what you and Brandon like best. Some Doctors say no shots until 18-24 months. Also using a schedule like this or any other schedule that is different, the public schools will make you get a waiver to enroll him - some daycares too.


two-months: DTaP, Rotavirus
3-months: Pc, HIB
4-months: DTaP, Rotavirus
5-months: Pc, HIB
6-months: DTaP, Rotavirus
7-months: Pc, HIB
9-months: Polio (IPV)
12-months: Mumps, Polio (IPV)
15-months: Pc, HIB
18-months: DTaP, Chickenpox
two-years: Rubella, Polio (IPV)
two-and-a-half-years: Hep B, Hep A (start Hep B at birth if any close relatives or caregivers have Hep B)
three-years: Hep B, Measles
three-and-a-half-years: Hep B, Hep A
four-years: DTaP, Polio (IPV)
five-years: MMR
six-years: Chickenpox
12-years: Tdap, HPV
12-years, 2 months: HPV
13-years: HPV, Meningococcal

Also, you can refuse anything that you do not want your chiild to have. Just research info and talk to your doctor.

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