Our daughter from China

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Our daughter from China
« on: January 28, 2010, 11:35:57 AM »
Dear friends!

I am mother of a 2 year old wonderful girl. She is born in China and adopted by us. She came home to Norway with us in December 2008. When we came home we discovered she had low HB and in april we got the diagnose Beta Thalassemia Intermedia. In our country this is a very rare disease, so we are very happy to have found this site.

Our doctors are doing a greate job monitoring and follow up our daughter and she is at present doing fine. Her HB level has hopefully stabilized around 8,5. The lowest she has been was 8,2 after an infection. On the next test she was 8,8. We are of course very worried for her, and want to learn how she can have a best possible life living with Thalassemia.

I found a letter from our doctor to another and have translated what she wrote about her diagnose. I have probably not translated everything right: :huh

“Two Beta Thalassemi mutations, one, codon 17 A>T introduces a stop codon and exclude synthesis from the gene, thus a Beta 0 mutation. The other a 28 A>G  in base 78 in relation to start-ATG in DNA sequence is a mutation in promotorregionen (! I do not know how to translate this word) which gives lower mRNA production from the gene, and reduced, but not quite excluded protein synthesis, thus a Beta + mutation. There is not any mutation in the alfagene”

We are thankful for inforation you might have!

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Offline Fadd

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Re: Our daughter from China
« Reply #1 on: January 28, 2010, 12:17:50 PM »
Welcome to this informative forum...
You will definitely get all sort of valuable information here...

I'm myself a junior member in experience so i would leave answering part to the others. There are many senior members to guide you on your queries.

Take care
Fouad
Fadd

Re: Our daughter from China
« Reply #2 on: January 28, 2010, 12:53:47 PM »
Hi,

Your daughter has beta+ thalassemia intermedia, which means one of her beta gene produces small amount of protein to make HB just enough to be at or over 8. She should continue to grow normally as long as her HB remains over 8 or 9, however, you need to have a close eye on her. The bodies normally adapt to low HB in these cases and continue to grow but the lower HB of 8 does put stress and may lead to some complications such as large spleen, lower stamina etc.

She should not require regular blood transfusions.

For you to understand and digest all the information, please keep visiting our forum and keep asking questions.

Do not be worried, as with medical management your daughter can lead perfectly healthy life in future.
Regards.

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Offline Zaini

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Re: Our daughter from China
« Reply #3 on: January 28, 2010, 05:40:58 PM »
Hi,

Welcome on the forum,i totally agree with what Canadian Family said,one more thing i'd want to add is try to avoid high iron food in her diet,as when hb is chronically low,body tends to absorb more iron from food,which in turn will get stored in the body.Try tea after meals if she likes it,it helps inhibit iron absorption from food,read through our diet and supplements section,this will help a lot.

And feel free to ask any questions you have in mind :) .

Zaini.
^*^Xaini^*^

Re: Our daughter from China
« Reply #4 on: January 30, 2010, 08:10:54 AM »

Thank you for friendly words and good advices! We will be in here often to learn, to ask and maybe give some advices as we learn more.


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Offline Andy Battaglia

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Re: Our daughter from China
« Reply #5 on: January 30, 2010, 06:56:59 PM »
Hi Babynorth,

I would highly recommend lifelong daily folic acid supplements for your child, as folic acid is necessary to build red blood cells and is the first line of treatment in thalassemia, especially in non-transfused patients. Good nutrition and certain supplements can help to keep her Hb level adequate, so starting her out on good eating habits at a young age can be very fruitful. Avoid processed foods and limit the red meat intake, as intermedias often absorb far too much iron from their foods, so a low iron diet is beneficial.

Considering that one gene is beta zero, your daughter is fortunate to have a decent Hb level. Do you have the results of an electrophoresis test? I am interested in what her fetal hemoglobin level is (HbF). This is often a key in the health of intermedias and is something that certain supplements can positively affect.
Andy

All we are saying is give thals a chance.

Re: Our daughter from China
« Reply #6 on: February 01, 2010, 09:31:41 PM »
Dear Andy

Thank you for your information and advices. We are taking good eating habits very seriously, and trying to give her good nutrition. We will be thankful for further advices!

In July 09 she had these levels: HBF 90,3%, HbA1 9,9, HbA2 2,3
In March 09 she had these levels: HbF 89%, HbA0 (?) 7,7, HbA2 2,4

We have done tests in March, in July and recently (we have not got the results yet). Every 3-4 week we are monitoring her HB level.

You say that considering that one gene is beta zero, our daughter is fortunate to have a decent Hb level. Do you think this will change?


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Offline Andy Battaglia

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Re: Our daughter from China
« Reply #7 on: February 02, 2010, 02:51:30 AM »
Hi Babynorth,

I think it's still too early to say if her Hb will stay as high as it is now. Intermedias often do not show much evidence of thalassemia until two years old, and the condition may continue to worsen over the next several years. However, your child's Hb has been fairly stable and she is doing well. In addition, her hemoglobin level is about 90% HbF, which shows a strong ability to produce fetal hemoglobin, not because it is 90%, but because that 90% = an HbF of 7+ on its own. This could prove to be very beneficial, as there are both natural methods and drugs that can stimulate the production of HbF, thereby keeping the patient transfusion free. Wheatgrass shots and resveratrol are two natural substances that have helped raise the HbF in some patients. The drug, hydroxyurea is also commonly used to raise the HbF, but the drug route won't usually be used until the Hb drops into the 6-7 range. The wheatgrass shots made by Dr Wheatgrass (Dr Chris Reynolds) are very easy for children to take. And of course, the good diet will also help. In addition to minimizing red meat, avoid citrus with meals, as vitamin C aids in the absorption of iron, Drinking tea with meals will help prevent iron from being absorbed from plant foods. Minimizing iron absorption is an important matter in those with chronically low Hb levels, as the body will absorb too much iron when the Hb is low in an attempt to build more red blood cells, but this means it builds many bad red blood cells that are of no use to the body and also cause other problems like clotting issues. It is better to try to stimulate the production of red blood cells containing fetal hemoglobin, as these will be normal, useful RBC's.

The approach to treatment of thalassemia intermedia has changed greatly in the past 10 years, with more emphasis being placed on transfusing so that normal growth and development occur. This should be the main criteria for determining if transfusion does become necessary. If the growth and development are noticeably slowed, transfusions will most likely be recommended. In the past, transfusions were avoided at all costs, but with the variety of iron chelating drugs available and the development of managed care, the focus has shifted from avoiding transfusions to an emphasis on the quality of life that can be had with a higher hemoglobin level. This is a decision that you may eventually have to make but right now things look good.

Looking to the future, one very interesting area of research has been into new drugs to stimulate fetal hemoglobin production. Stage two trials are currently being conducted. Funding is an ongoing issue, as it is for many areas of thalassemia research, but we should expect to see new drugs within the next ten years. This could totally eliminate any need for transfusions in thal intermedias.
Andy

All we are saying is give thals a chance.

Re: Our daughter from China
« Reply #8 on: February 04, 2010, 07:39:50 PM »

Thank you Andy!
We testet her HB today and it was 8,9 :smiley

We are pleased to hear about the new drugs, and hope that time will work for her. We hope she will be some years older before she might need transfusions or drugs. We will keep up giving her good nutrition.

Regarding folic acid I am sceptic to give her this because of the risk of developing cancer. Have you seen the studies about this?

We are interested in hearing more about the Wheatgrass shots. Do you think it will be possible to get it here in Norway?

I am sorry, my english feels so pure. This is why my answer is short, and probably not correct written.

Thank you!

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Offline Andy Battaglia

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Re: Our daughter from China
« Reply #9 on: February 04, 2010, 08:31:52 PM »
I would direct you the results of a more recent study that actually studied women, rather than try to analyze data drawn from other sources. In this study, they gave supplements to women for over 7 years. There was absolutely no difference in cancer levels between those who took 2.5 mg folic acid daily and those who did not. I have to add that folic acid is one of the most common deficiencies in thalassemia.

http://jama.ama-assn.org/cgi/content/abstract/300/17/2012

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Results  A total of 379 women developed invasive cancer (187 in the active treatment group and 192 in the placebo group). Compared with placebo, women receiving the active treatment had similar risk of developing total invasive cancer (101.1/10 000 person-years for the active treatment group vs 104.3/10 000 person-years for placebo group; hazard ratio
, 0.97; 95% confidence interval [CI], 0.79-1.18; P = .75), breast cancer (37.8/10 000 person-years vs 45.6/10 000 person-years, respectively; HR, 0.83; 95% CI, 0.60-1.14; P = .24), or any cancer death (24.6/10 000 person-years vs 30.1/10 000 person-years, respectively; HR, 0.82; 95% CI, 0.56-1.21; P = .32).

Conclusion  Combined folic acid, vitamin B6, and vitamin B12 treatment had no significant effect on overall risk of total invasive cancer or breast cancer among women during the folic acid fortification era.[/size]

There has been much argument about whether or not folic acid is needed in transfusing patients because they are not making their own blood, but this also was proved wrong in an Iranian study. You can see a thread bout this at
http://www.thalassemiapatientsandfriends.com/index.php?topic=2836.msg27623#msg27623

Quote
In conclusion, we recommend prophylactic and routine folic acid supplementation for all patients with β-thalassemia major and intermedia.

And also, from the Standard of Care Guidelines for Thalassemia, which you can find attached to the post at http://www.thalassemiapatientsandfriends.com/index.php?topic=1762.msg14639#msg14639

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Nontransfused thalassemia intermedia.
A low-iron diet and drinking tea with meals to decrease
absorption of iron is recommended. If zinc level is low,
patients should be put on supplementation. Daily supplementation
of 1 mg folic acid should also be taken.

Concerning intermedias, from the Cooley's Anemia Foundation:

http://thalassemia.org/updates/TI3.pdf

Quote
When the bone marrow has to work overtime to
create more and more red blood cells, this
“hyperactivity” affects the bones themselves,
and can cause them to become distorted,
thinner and more easily broken. This
hyperactivity also can lead to a need for
greater intake of certain vitamins, such as folic
acid, vitamin D and calcium.

Thalassemia intermedias can survive without transfusions as long as the Hb is kept high enough, and folic acid is one of the keys to building red blood cells. If you do have doubts, have a folate test done to see where her level is.
« Last Edit: February 05, 2010, 01:09:10 AM by Andy »
Andy

All we are saying is give thals a chance.

Re: Our daughter from China
« Reply #10 on: April 15, 2010, 06:51:05 AM »
Hi there, I just want to encourage you to keep such a wonderful attitude toward your daughters situation.  I am 49 years old and embarrassed to say, I have not taken the best care of myself.  Still, I am here, and have led a terrific life, with plans for more!  Because I was diagnosed in the 70's when thalassemia truly was rare, I did not have a support group, or even a small percentage of the information available on this site.  I am so grateful to have found such a group of people.  I hope you keep coming back and when your daughter is old enough, that you introduce her to this site as well.  I am new here to thalpal and fully intend to listen to their advice and use it to direct the rest of my life.  It is obvious, they  know what they are doing!  The very, very best to you and your family.  Oh, and by the way, I too am adopted.  My parents have always told me I was 'chosen' and it makes me feel special. OldThalGal

 

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