Discussion Forums > Thalassemia Major

Again!

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Christine Mary:
hi to all:

fantastic news... lauryn went to her hemo today and her hgb was 10.3! it went up a point fom 2 weeks ago.

even though she had a massive ear infetion (and is still not herself..runny nose croupy cough etc...).
she lost 12 ounces, but the md attributes that to her getting over being sick. her ears are clear and her chest is also clear. her heart sounds fine.all looks good.
the md is unsure as to why she is stabalizing after 6 weeks from the first tx. he says the donor blood should be gone by now...

Her speen is only 1/2 cm(a fingertip).it was 3 cm's 2 weeks ago. the next step is in 2 weeks, do her regular labs, and assuming she will still be in the 10's, wait another month for her second transfusion!

the mds only logical theory is when she was 7.6 at the time of  the first transfusion, she must've had a virus or "bug" that we did'nt detect, and that is why she dropped and needed her blood. he guesses that after the transfusion she stabalized and is now holding her own again, so to speak.

we got the DNA results: she is definitley Thal major.

its VERY complicated to explain but according to the md, lauryns mutation is very unusual.

one of us (husband or I) carry the nt168 gene
and the other nt365+45

the results say:

IF NT168C-T AND NT365=745C-G ARE ON OPPOSITE CHROMOSONES, THE MOLECULAR RESULTS WOULD BE CONSISTENT WITH BETA THALASSEMIA. TAREGETED TESTING OF THE PATIENTS PARENTS WOULD CONFIRM THE ORIENTATION OF THESE SEQUENCE VARIATIONS.

NO EVIDENCE OF THE 619BP DELETION OF THE B-GLOBIN GENE IDENTIFIED.


if i remember correctly, the dr says lauryn has 2 diff. types of defective genes that equal thal major. she doesnt have the TYPICAL COMMON defect. I think he said our odds were even greater with the genes that were affected.

i guess she belongs in the next X-MEN movie?  :rotfl

Bostonian_04:
Hi Christine,

It's great to hear that Lauryn is doing great and has recovered from her ear infection. The DNA reports can be pretty technical :) We also had some trouble understanding the DNA report when it came in ... the only thing that we surmised was that I had a bad gene, my wife had a bad gene and our daughter inherited both the bad genes ..... and so ended up being b-Thal Major.

Hoping that Lauryn keeps up her Hb level at the time of her next check-up.

Hugs to Lauryn.

Take care,

Bostonian

Manal:
Hi Christine

Good to know where we stand. Very happy to know that Lauyrn is fine. Let's hope she will maintain her HB as long as possible.

Keep it up

Manal

§ãJ¡Ð ساجد:
Hi Christine,

That's really good that Lauryn is maintaining her Hb. :stars

I hope her special mutation increases the Hb. every now and then like she is doing now and keeps postponing the transfusions. :happyyes

Take care, Peace!

Christine Mary:
andy?

what are your thoughts,please? :biggrin

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