Hi all,
My wife and I are expecting a child and the results of the DNA test just came in.
The Alpha-Thalassemia DNA analysis for our unborn fetus has revealed that it has the gene deletions consistent with a diagnosis of Hemoglobin H disease (alpha 3.7 single gene and --SEA double gene deletion). However, "there is also evidence of a normal alpha-globin gene locus" which is "unexpected in view of the deletions" and "indicative of a possible complex rearrangement."
Our genetic counselor and the NP at our OB's office seem to think that the unexpected finding is a good thing that may cancel out one of the deletions, but neither are experts on blood disorders. They suggested we consult with a hematologist, but none of the ones we've gotten a hold of here in San Diego seem to be very familiar with the subject. One receptionist hadn't even heard of thalassemia and had to have us spell it.
We have a family member who is an MD that is more concerned, saying that we don't know whether the "normal" one will actually work, and that one abnormal finding could mean that there are other abnormalities that weren't or couldn't be tested for.
We have no idea what to think or expect, even from a "standard" hemoglobin h disease perspective. Has anyone ever heard of a situation like this, or know of any experts or resources in the San Diego area?
Thanks.