So we’ve waiting on the results of my husbands blood work for our genetic carrier testing and it came in today. It’s not good news. So he is also an alpha thalassemia carrier specifically for Hemoglobin H disease which according to the genetics dr is a moderate form of alpha thalassemia ( there are 3 diseases that could be caused by alpha thalassemia 1. Traditional alpha thalassemia or extreme anemia lesser of the three, 2. Hemoglobin H disease, & 3. Beta thalassemia I believe it’s called which most often results in stillbirth or death shortly after birth). As it is now our babygirl has a 30% chance of having Hemoglobin H disease, should I carry the same form or the more severe then baby’s risk of stillbirth will raise dramatically.

They NEVER caught this with our son and we are completely caught off guard with this news. We now will continue to be considered and treated as high risk with regular ultrasounds to watch babies growth and heart growth as these diseases come with many risks until we know what my specific carriers are which should be soon. We meet with the geneticist in a couple weeks to do a full genetic panel on me and look at babies heart as a precaution. I am so terrified and wondering if this may be why we’ve had so many losses before the 2nd trimester as miscarriage is common when babies have some of these disorders.

Has anyone had any experience with these diseases? If so what was the outcome?