our powers combined- alpha thalassemia major

Neither my husband or I knew that we carried alpha thalassemia trait.  We are both blond, blue eyed and from very large families on both sides.  NO one on either side has been told they have this trait yet our 3rd pregnancy ended with a stillborn son at 21.5wks due to alpha-thalassemia major.  Our daughter must be in the 25% perfectly normal or it would have popped on her newborn screening, right?  I'm hoping that is true but please correct me if that is wrong.  The real ironic part of this story is that my husband is the youngest of 5 and his siblings are married to 1. a southern chinese woman, 2. an Iranian man, 3. an Indian woman... all risk factors and all have perfectly healthy children.  We've called everyone in our families to encourage testing but have found some resistance on my husbands side for religious reasons.  It boggles my mind that knowing your risk could somehow become a religious issue but that's how it is for them.  Anyway, I'm still new to my research but it seems that we have a 25% chance of another loss due to this with each future pregnancy and 75% for either normal or trait... we don't have risk for a living child with medical complications, is that right?   Is that always the case or are there other scenarios I should be aware of.  We haven't done the genotype yet for my husband and I, which we will do.   I'm getting a little ahead with my research.  Any comments are welcome.  Thank you

Hi girl4papa,

I'm sorry to hear about your loss. We seem to be hearing more and more reports like this, although it is rare in your ethnicity.
Testing protocols do not necessarily find all alpha carriers at birth and ethnicity is a determining factor in whether to look for alpha. Because you and your husband both have to carry a two gene deletion on one chromosome, if any of your children inherit it, they will also inherit it as two gene deletions on that chromosome and when both sets are inherited, fetalis hydrops will occur as did with this recent pregnancy. Your doctor may be able to tell you more about the local testing and whether or not it rules out 100% that other children are not carrier. Because alpha is so difficult to identify, it is generally recommended to test of all the family to find who are carriers. DNA testing may be necessary. As you have experienced, it is not something to ignore, as some members of your family are doing. I know of no religious beliefs that would reject testing for thalassemia and it is routinely done and is even a requirement before marriage in some countries with very conservative religions.

You are right about the odds, but odds are meaningless in a specific situations, as families with 3 thal majors can attest. You are also following the correct procedure to get the genotype (DNA) test. It is essential and will not only help your family, but will also further the collection of data about those who do not fall into the ethnic groups normally affected by alpha thal. Testing can also rule out a rarer 3 gene affected condition that also leads to stillbirth, so it is very important to identify the specific deletions or mutations present in both parents.