confused DNA reports

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Offline asma

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confused DNA reports
« on: June 01, 2013, 11:18:24 AM »
Hi everyone

My daughter alyshah is 2 yrs and 4 months. Recently we found
out that she may be a thal intermedia. But there is a lot of
confusion in her reports. Up till now she has no physical signs
of being anemic except for being a little pale. She is extremely
active, tallest in her age group and very intelleginet too.
Now here are her reports

Hb 7.4
HbA 64.9%
HbF 30.9%
HbA2 4.2%

S. Ferretin 61
Reticuloytes count 10%

Her DNA report
Beta thalassemia mutation 1: cd 15(G-A) supposedly from mother
                               Mutation 2: Fr 8-9 (+G) supposedly from dad
Alpha thalassemia mutation 4.2 kb del: single gene deletion

Heterozygous for Xmnl Polymorphism

Conclusion: compound heterozygous (Fr 8-9/cd 15) beta thalassemia
(major) with co inheritance of single gene deletion of alpha - 4.2 kb
del of alpha chain.
Heterozygous for Xmnl polymorphism -158 (C-T)

Now the confusing part is that my (mom) DNA report from another lab shows
That I am heterozygous cap +1 (A-C) and my husband is thalassemia minor

My question is do our reports match with our daughter . Should all
Of us get separate DNA analysis done again.

Hydroxyurea 2.5 ml has been started for my daughter along with
Vitamin b12 complex and vitamin E and calcium.

Plz also tell me the side effects of hydroxyurea on urself or ur kids.
I need to learn to cope with this new way of life. Plz all of you guide
me. Currently we r extremely depressed and confused.
Thanks
asma

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Offline Andy Battaglia

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  • Will thal rule you or will you rule thal?
Re: confused DNA reports
« Reply #1 on: June 02, 2013, 03:53:15 PM »
I think there is a mistake in the one lab report. Cap +1 (A-C) is a silent beta mutation and when combined with another thal minor can cause intermedia thal. Cd 15(G-A) is listed as a beta zero mutation.The  Xmnl Polymorphism and the alpha mutation can both work as moderators of the condition, again leading to an intermedia state. Because of the complexities involved when moderator genes are present, I don't want to guess which report is correct, although I am leaning towards the Cap +1 (A-C) mutation, as it typically leads to intermedia when combined with another beta mutation. Cap +1 (A-C) would also be difficult to detect in the parent by electrophoresis, so even if both parents had gone through routine testing before getting pregnant, the mutation may not have been discovered until DNA analysis was done.

The child should also be taking folic acid. FYI, hydroxyurea has been shown to work better when other fetal hemoglobin producing supplements are taken along with it. Among these are wheatgrass, resveratrol, magnesium and L-carnitine.

Side effects of hydroxyurea are usually mild, often vanishing after the first few weeks, and do not persist once the drug is stopped. I will mention that better fetal hemoglobin inducing drugs are in development, so I don't perceive hydroxyurea being a lifelong obligation for patients today.

I know this is new and upsetting, but I want to reassure you that immense progress is being made in the treatment of thalassemia and that your daughter's prospects look good for the future. I have been involved with thalassemia for 10 years and in those 10 years, treatment has made great advances and the understanding of thal intermedia has grown substantially. The future is full of hope based on research going on today. I expect that thalassemia will be treated much differently in the coming years.
Andy

All we are saying is give thals a chance.

 

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