'Silent' Alpha Thalassemia Carrier and Pregnancy

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'Silent' Alpha Thalassemia Carrier and Pregnancy
« on: February 05, 2018, 07:46:14 PM »
My wife is a 'silent' carrier of alpha-thalassemia (one gene deletion). This came as a bit of a surprise since her ethnic background is english and irish. In the past two years, we've had seven miscarriages in the 1st and 2nd trimester. We've been checked for everything, and there is nothing wrong, according to the doctors. We're both young, fit, and healthy, and the doctors agree that we shouldn't be losing this many pregnancies.

We found out about her thalassemia from a carrier screening. At first, this concerned us, as I carry both beta and alpha thalassemia (also one deletion), and we were worried about passing on a devastating disease to future children. However, we've been reassured that at worst any child could only inherit the alpha trait, not full on Hemoglobin H disease.

While quelling our fears in one regard, we're now wondering if being an alpha thalassemia carrier is linked to pregnancy loss. I've read some of the posts here, and the answer seems to be yes, but it seems that most of these are from women who carry beta trait. My wife's obstetrician has suggested she try a blood thinner in the next pregnancy. As far as we know, my wife has no blood clotting disorder, but her obstetrician has assured us that in her clinical experience, many women with multiple losses do have a disorder that they cannot diagnose. We're perfectly happy trying this, but I'm still curious if the thalassemia could be related.

I know they call it being a 'silent' carrier, but I've known about my thalassemia for many years, due to my initial complaint of random bouts of shortness of breath and numbness in my limbs. I'm borderline anemic, and always have been. Knowing that my wife also carries the trait makes me wonder if she's having symptoms too. When pregnant, she is very easily fatigued and frequently almost faints. Her MCH and MCV always test as just on the border of low. During pregnancy, her platelets have increased at least once. Finally, I worry that she lacks some of the protective genes she may have if her ethnic background was Asian or African. For example, although I carry both beta and alpha, my family also carries the hereditary persistence of fetal hemoglobin, which is supposed to alleviate some symptoms.

Because of her diagnosis, she's stopped taking extra iron (her iron is fine according to blood tests) and has started taking a lot of extra folate.

So, in sum, my questions are:

1. Is simply being a carrier of alpha thalassemia linked to pregnancy loss?
2. Could it increase your risk of forming blood clots, which is currently our best guess as to why we've lost seven pregnancies (all have been sudden losses, baby there one day and gone the next)?
3. Is there anything we should be aware of when she's pregnant? Tests to run, interventions?
4. Are there any blood results that may be called into question given her carrier status? I know that A1C can be affected by carrier status, is there anything else?

Thanks,
Travis

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Offline Andy Battaglia

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Re: 'Silent' Alpha Thalassemia Carrier and Pregnancy
« Reply #1 on: February 09, 2018, 10:29:58 PM »
This is one of the most common problems reported to me by thal minors. Yes, it is related to thalassemia and it is related to clotting issues, that will only be present during pregnancy. In all types of thalassemia, the bone marrow is overactive and some of what is produced are defective, irregularly shaped red blood cells. These can block smaller blood vessels and in pregnancy, this can reduce the flow of blood between the placenta and uterus, leading to miscarriage. Blood thinners can help. I prefer natural vitamin E, as it also has strong antioxidant properties.

I typically recommend to pregnant women 400 IU natural vitamin E complex, along with 2-5 mg L-methylfolate and 1000 mcg B12. If thal is the only reason for the miscarriages, this will help.
Andy

All we are saying is give thals a chance.

 

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