alpha-thal major baby but I'm not a carrier?!

My disclaimer is that this story doesn't make sense.  Last september my son was stillborn at 21.5wks with the eventual diagnosis of alpha-thalassemia hydrops.  Our perinatologist sent my blood and my husband's blood out for testing and it came back negative for any type of carrier alpha-thalassemia. Has ANYONE heard of such a thing?  They are now trying to figure out if I have this rare X-linked alpha-thalassemia but this form doesn't have severe anemia at all.  The statistical probability of BOTH my husband and I having a NEW mutation causing alpha-thal major is pretty much zero but I don't see how anything fits.   Basically, our docs said the only thing we know for sure is that our son had no alpha in his hemoglobin.  It's so strange.  Both my husband and I are from huge families (5 and 8 siblings) of mixed gender and we're both blond haired and blue eyed.  I know that there is probably no one here with any answers but I figured it was worth a try.  Thanks for taking a moment to hear our story.

girl4papa - I do understand your frustration, but Alpha Thal is very complex. Diagnosis of Alpha Thal (Trait) should be more involved. I hate to hear doctor's unable to detect it and say you don't have alpha thal trait.

Was DNA testing done to rule our you and your husband are NOT carrier's of alpha thalassemia? DNA testing is the only way to get a clear picture of what is going on. Does the perinatologist have knowledge about thalassemia? Especially, Alpha Thalassemia and that DNA testing is required of the parents?

Review the chart at http://www.cooleysanemia.org/updates/pdf/Alpha_Thalassemia.pdf and look at the 2nd page (last option).

Knowing before hand and planning the pregnancy is very important. Getting the results of the testing of both of you are very important and the 1st step towards getting a clearer picture. Do come back and update us with what you find or if you have more questions. We might be able to share what we know.

Please make sure that your doctors are aware of the various DNA testing techniques for the different types of alpha thalassemia. See the link below. Under the heading "Molecular Genetic Testing" is found a description of the proper DNA tests for the various possibilities. Make sure your doctors are aware of this, as some types of alpha take very specialized testing to diagnose. This page is perhaps the best online source for understanding alpha thal.
http://www.ncbi.nlm.nih.gov/books/NBK1435/