Do you know what Thalassemia is?

Just recently, I was diagnosed with Thalassemia Trait.

What is this?

According to Wikipedia, it is an inherited autosomal recessive blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains can cause the formation of abnormal haemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias.

You don’t just get Thalassemia like the way you get a cold or flu. People with Thalassemia disease and trait are born with it.

What is this in layman’s terms? As explained by my Hematologist, Dr. Cynthia Cantos-Castro, Asian Hospital, it means that my red blood cells break down easily. She said RBCs are supposed to have a life span of 120 days, but mine only last for 90 days, and that explains my being anemic for a long time. I have been anemic for years and it was only recently that I had a work-up with a Hematologist after the doctors in our office clinic insisted that I really should consult a specialist because everytime I have my Annual Physical Exam, the result of my hemoglobin level is always very low.

I underwent series of blood tests before it was confirmed that I have Thalassemia. My last blood test, Hemoglobin Electrophoresis was the deciding factor on the type of Thalassemia that I had. The test revealed that I had Thalassemia Trait which is fortunately a minor case. But just the same, it still means that I have defective hemoglobin, and that my hemoglobin level will never be normal.

My next concern was whether any of my kids has that disease. According to my doctor, the defective hemoglobin should be present in both parents before their children can have it, so in our case, my husband has never been anemic so it looks like our kids are safe. So, we consider this as a blessing, because otherwise, if my husband has Thalassemia also, there is a chance that one of our children will have Thalassemia major, which as explained by my doctor is really very scary because the child who has Thalassemia major will not survive unless he gets regular blood transfusion.

Thalassemia is fairly common but often not diagnosed, as in my case, I have this since I was born, but since I was scared of what a specialist might find out about my disease, I delayed seeing a Hematologist. It was only when I was already experiencing heart palpitations, skipped heartbeats that I seriously considered seeing a specialist because I thought these have something to do with my being anemic.

Now I know why during my high school days I always passed out, probably because of my too low hemoglobin levels. It also explains the gallstones that I had and the eventual removal of my gallbladder two years ago, because according to Dr. Castro, the early breakdown of red blood cells lead to the formation of stones which is composed of bilirubin, and not cholesterol as is often the case with gallstones.

For now, I’m talking Folic Acid every other day, and Dr. Castro said she only needs to monitor my liver and pancreas and there’s one more blood test that she asked me to have, the Serum Ferritin, to check the iron content in my body.

By the way, Dr. Castro is a pediatric Hematologist. When I called up Asian Hospital to inquire about their resident Hematologists, I was referred to her, and at first I was hesitant when I learned that she specializes in children, but she assured me that she has adult patients also. And I was thankful because I actually prayed that I will be led to a good doctor. She is really a very good doctor, she explained everything to me and my husband, and during my second visit with her, when I showed her the initial blood tests that I had, she told me not to worry, and that I didn’t have any serious disease, nor cancer of the blood like leukemia, because that’s what I was scared of.

What I'm really thankful for is that my kids didn't get this disease, and that's enough blessing for me.