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Thalassemia Patients and Friends and thalpal Ā© A. Battaglia 2017





54512 Posts in 5759 Topics by 5930 Members
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This is Thalassemia Patients and Friends,
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Lisa Cammilleri.
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Author Topic: Newly diagnosed and pregnant - need an expert advice!  (Read 437 times)
delilah
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« on: January 07, 2018, 12:04:17 AM »

Hello all, thank you for admitting me as a new member of this board! Two days ago I have been diagnosed with Alpha (zero) thalassemia (two gene deletion) via the prenatal genetics test given to me due to my advanced maternal age (I am 36 y.o). Needless to say, I was shocked and really bummed out about my new status as an Alpha that carrier, since this pregnancy was nothing short of a miracle after 5 consecutive losses... Well, not surprisingly, now they want my husband to get tested. I know, that the only way to determine this for sure is through the DNA test, however, since it takes time to conduct this analysis (which doesn't help my anxiety a slightest bit), I was wondering if someone can look at my husband's CBS report and tell me at least the ODDS of him having the same type of thal as me?
RBC 5.63 (4.10-5.60)
MCV 86.2 (80-98)
MCH 29.4 (27.0-34.0)
MCHC 34.0 (32.0-36.0)
RDW 13.2 (11.7-15.0)
I know these indicators pretty much exclude the two gene deletion scenario.... However, it worries me that he still can a be a silent carrier of Alpha thal. Thank you in advance!
Dani.
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SaltySea
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« Reply #1 on: January 14, 2018, 02:15:22 PM »

First of all congratulations on your pregnancy.  Wonderful news.

In regards to the information you have presented your husband's MCV and MCH appear normal which does not suggest that his cells are hypochromic or microcytic which is usually a feature of thalassemia carriers. 

Have you done a Hb eletcrophoresis. This blood test should not take long.

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delilah
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« Reply #2 on: January 19, 2018, 03:46:06 PM »

Hi Salty Sea, thank you so much for replying. Yes, I know that his MCV and MCH are that of a normal range, but from what what I gather, he can still be a silent carrier - even with those numbers, correct? Anyways, we've done the electrophoresis almost two weeks ago - still waiting for the results. As of today, I am almost 19 weeks pregnant and, understandably, freaking out. Well, I guess there's nothing one can do at this point but to suck it up and wait some more... Hopefully all is good. I'll keep you guys updated.
P.S. To anyone in a similar situation: please do not use Quest Diagnostics for this test. Seems like their turnaround time is way longer than with any other competing lab. 
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delilah
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« Reply #3 on: January 23, 2018, 05:06:03 PM »

Well, in case if anyone is wondering, after two weeks of agonizing wait, my husband's DNA test came back negative for Alpha thal. I am beyond relieved but still feel a bit uneasy about everything. My high risk maternal fetal medicine doctor is not worried much because my hemoglobin is apparently in an Okay range - 11.3 (11.7-15.5 is the norm for this lab), however I've heard that HGB can go down in pregnancy and if not monitored, could be a dangerous factor. Am I right on this one?  Anyone?
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Andy
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Will thal rule you or will you rule thal?


« Reply #4 on: January 23, 2018, 07:04:51 PM »

The only number that seems out of line is his RBC. This is high in carriers of alpha and beta thal, but can also be high if one lives at high altitude, one smokes or has sleep apnea. That result can also occur if the person is a bit dehydrated when the test is done. I don't think there is any concern with the DNA test showing he is not a carrier.

The best advice I can give you is to take L-methylfolate (proven to be more beneficial than folic acid in pregnant thal minors) and sublingual B12 during the pregnancy to help keep your Hb up. The dose may seem high, but thal minors generally do better during pregnancy if they take 2-5 mg folate daily. I also suggest natural vitamin E (440 IU daily) to help prevent the clotting issues that are fairly common in thal minor pregnancies.
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Andy

All we are saying is give thals a chance.
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