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Lak001
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« on: July 18, 2012, 05:07:43 PM »

Am I glad to have found this website!! I am a 37 year old Indian woman with beta Thal trait. I have been hypothyroid since 2001, and every time I had blood work done, my RBC readings were totally out of whack. My MCV, MCH, and about everything else was low in the RBC panel. This did not alert my endocrinologist, and she never bothered to get me tested for thalassemia trait, or iron deficiency. Finally, when I got pregnant in 2003 and I insisted my gynec to check me for beta thal, so she did and turned out I did have it all along.
I should have known, but I was too stupid and ignored the fact that my maternal cousin had passed away from thalassemia at the age of 22. I was so stupid that I didn't even know she had thalassemia. It was so hush-hushed in my family. Then one of my other cousins told me it was thalassemia that my cousin had died of. It all came together then.

Now I'm worried for my daughter. She's almost 9, and every time her CBC shows low MCV and low MCH. Her new born screening said Hgb F and Hgb A present, and the result was normal. My husband had gotten a Hemoglobinopathy done by HPLC method during my pregnancy and it was normal ruling out the beta thal trait. But he does always seem to have lower end normal of MCV and MCH, and sometimes lower than normal, on his CBC workups. That has gotten me worried if he has any alpha gene mutations.

So if my husband does have the alpha trait, and I have the beta thal trait( don't know if I have the alpha trait as well) what are the implications of it on my daughter?
I have asked for an appointment with a hematologist at the Children's medical center, but that's going to take some time to get it.
Will I be turned away by the hematologist because the newborn screening says normal FA Hgb? What should I do if that happens? How can I get my child's carrier status known? I have the gut instinct telling me she is a carrier of beta thal too Huh?

Post Script: My husband has had his thyroid levels go up and down all the time. He's been hyperthyroid, and hypo, and has been yo-yoing since 2001. Are there any indications that thyroid disease can cause microcytic, hypochromic red blood cells? Any input on that is appreciated, from anyone going through a similar situation.
« Last Edit: July 18, 2012, 05:30:55 PM by Lak001 » Logged
Andy Battaglia
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« Reply #1 on: July 18, 2012, 10:52:49 PM »

Hi Lak001,

Do you have any test results for yourself, your husband and your daughter? Beta thal minor cannot normally be determined by the tests at birth, so it is quite possible that your daughter is also a thal minor. Test results may be able to confirm this. The CBC results will suggest thal minor if certain values, MCV, MCH and Hb are low and if RBC and RDW are high. A simple blood test called a hemoglobin electrophoresis should be able to confirm if minor is present, based on what her current HbF and HbA2 levels are. Anything more than minor would have been noted long ago. To answer your question, in most cases, the presence of both alpha and beta gene defects have a moderating effect on each other. If a minor also carried alpha, the minor is likely to be fairly normal, with a higher Hb than a beta minor would normally have.

Thyroid would not affect the blood cells the way thal and iron deficiency do. Your husband may be iron deficient, or could be an alpha carrier. If eating an iron rich diet improves his health, you can be sure it's iron deficiency.

If you can get an electrophoresis test done for your daughter, you will probably not need to be seen at a center. The best things a thal minor can do is eat a nutritious diet, avoiding junk foods, get plenty of sleep daily and stay hydrated. There are various supplements that can also help. But keep in mind that minor is not a serious threat to health like the more severe forms of thalassemia.
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Lak001
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« Reply #2 on: July 19, 2012, 11:43:09 AM »

Andy,
Thank you very much for that prompt reply!
I do have the latest blood work of mine and my husband's.

My husband's recent lab report, done on 06/18/2012

Test Name                     Result      Units   Flag            Reference Range Specimen Source
               
RBC                               5.40        MILL/CU High            4.20-5.10                       
HGB                              14.7        GRAMS/D                 13.5-16.5                     
HCT                              45.0        %                          39.5-48.0                     
MCV                              83.3        CU MICR                 80.0-98.0                     
MCH                              27.1        PICO GR                 26.1-33.3                     
MCHC                            32.6        %                          32.2-35.0                     

But he has had his CBC workup where the MCV was 76.7% and MCH was 25.9%. RBC - 5.5, HGB -14.2, RDW - 12.4 . This was in 2011 when his thyroid levels were high, TSH - 0.09

And here is my latest CBC workup done on 06/18/2012.

Name      Value      Reference Range
RDW      15.6      11.0-15.0 %
MCHC      30.5      32.0-35.5 G/DL
MCH      21.6      27.0-34.0 PG
MCV      70.9      80.0-100.0 fL
HEMOGLOBIN      11.3      11.5-15.5 G/DL
HEMATOCRIT      37.1      34.0-45.0 %
RBC      5.23      3.80-5.10 M/UL
WBC      8.9      4.0-11.0 K/UL   

My daughter's CBC done in 2011
RBC - 5.12, HGB - 11.6, Hematocrit - 36.0%, MCV - 70.4%, MCH - 22.6%, MCHC 32.1, RDW 13.8%

My daughter's MCV and MCH has never been higher than 70%  and 22% at any of her CBCs. It goes below 70% when her hemoglobin has been 10.5 at one time.

Thank you.           
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« Reply #3 on: July 19, 2012, 01:49:04 PM »

Your husband's results look normal. You and your daughter both appear to be thal minors. As I said, minor is not a serious disorder, although it can involve some anemia issues largely due to a lower than normal Hb level.
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Lak001
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« Reply #4 on: July 20, 2012, 09:12:10 AM »

Thanks Andy! That confirms my doubt. I was so wishing she should not inherit the trait :-(

I was wondering if there is any link between IBS and BTT. I have suffered with IBS all my life and now my daughter is following my foot-steps.
Also, I was reading an article somewhere on BTT saying that beta thal minors suffer from mood disorders from the low oxygen in their blood. they are more prone to Bipolar disorder and such mood disorders. That holds very true in my case, and in my mother's case where she is the carrier. I've had severe mood swings all throughout my life. Can anyone here substantiate that? That would be helpful. Thanks.
« Last Edit: July 20, 2012, 09:19:08 AM by Lak001 » Logged
Waleed
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« Reply #5 on: July 24, 2012, 07:11:49 PM »

Hello and Welcome to thalpal !

We all will try our best to assist you with best of our capacities. I'm thal major and require 2blood bag transfusions in a month to survive. I have experienced that once my Hb drops below 9 and especially below 8 I get in a very depressive mood. I think the fatigue and tiredness caused by low Hb makes one to feel like that.

Once again we offer you a very warm welcome.
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