It's no secret that once you become pregnant, you'll be tested for pretty much everything. I became so used to needles and giving blood that I had my best vein picked out for the lab tech to get a specimen from. During my last pregnancy, (2020, yes the beginning of the Pandemic) I informed my provider that I had the sickle cell trait. He decided to do some further testing. I'm glad that he did.
I received a phone call to come in to go over my test results. "Well you don't have the sickle cell trait, but you are an alpha thalassemia carrier." Those words were both surprising and foreign to me. I was confused. I had been informed that I had the sickle cell trait and if that wasn't the case, then why was I just finding out now? I had been pregnant several times before this. I didn't know what to think. I immediately became scared. I wasn't sure what that meant for myself or my unborn baby.
My doctor told me that her dad would have to be tested as well. If we were both carriers then my little Lauryn would have the chance of developing Alpha Thalassemia Major! Talk about panic mode. I wanted to know all about this disorder.
So what is Thalassemia?
It's a genetic blood disorder that can cause the body to have less hemoglobin than normal. This results in fewer healthy red blood cells which can then lead to Anemia. There are two types of thalassemia, alpha thalassemia and beta thalassemia. In alpha thalassmia there is a decrease in the number of alpha globin chains and in beta thalassemia there is a decrease in the number of beta globin chains. The alpha globin gene usually has four copies. So the more missing copies, the more severe the disease is. A carrier doesn't necessarily have any signs or symptoms, or they could have mild anemia and not need any medication or interventions. That's where I come in. I'm a carrier and I've always been told I was anemic.
There are four types of Alpha Thalassemia,
Alpha Thalassemia silent carrier - one gene is missing or damaged and the other three are normal. You may not have any symptoms or you may have mild anemia. You also have the possibility of passing a damaged gene to your child.
Alpha Thalassemia carrier - two genes are missing and you may have mild anemia.
Hemoglobin H Disease - Three genes are missing and you could have moderate to severe anemia. You could also end up needing blood transfusions. If you have a child, he or she could end up having Alpha Thalassemia Major
Alpha Thalassemia Major - All four genes are missing. You could have severe anemia and need blood transfusions. If you're pregnant, your baby could die before being born.
We were informed that her father is a carrier also. This meant that my baby girl had a 1 in 2 chance of being a carrier as well. Although the outcome wasn't as severe as I thought it would be for her, it was still concerning. This was foreign to me and I was nervous, as most parents would be. Once she was born her hemoglobin was checked and it was low. We had to follow up on it in six weeks. She is a carrier as well but everything is going well.
How can you be tested to determine if you're a carrier or have the disease? There are several different blood tests that can be done to figure this out. Tests such as a CBC or a Hemoglobin electrophoresis can be drawn to check your blood cells and what type of hemoglobin is present. Also, this is something that is more common in people of African, middle eastern, and Mediterranean descent.
How is it treated? It depends on what your diagnosis is. If your have the trait or are a carrier, then it's easier because you may have nothing or you could have a minor case of anemia. In a severe case like Alpha Thalassemia Major, folic acid, blood transfusions, removing your spleen, or specific medications can help treat this disease. It's important to know if you do have this. Even if you don't have any symptoms, you can still risk passing the gene to your unborn baby. If you do have symptoms, please follow up with your healthcare provider to figure out the best way to handle treatment.
Almost three years later and the little princess and I are doing well. We've survived a postpartum hemorrhage, Covid and the Flu (that's for another blog). Have any of you been diagnosed as a carrier or even with the disease? What was that like for you? Please share your experience!
Until next time.
Sending you peace, love, and light!
Tiffany Underwood
Certified Birth and Postpartum Doula
Child Birth Educator
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