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Author Topic: Newly diagnosed and pregnant - need an expert advice!  (Read 88 times)
delilah
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Location: Glorious USA

Gender: Female
Posts: 1


« 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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