Question
What types of thalassemia are there? A mother is confused about the results of her thalassemia genetic test. The report shows no abnormalities in α-thalassemia, but β-thalassemia is identified as a carrier. She wants to know what this means for her baby.
Answer
Thalassemia, also known as Mediterranean anemia, is a hereditary hemolytic anemia. α-Thalassemia is caused by abnormality or deletion of the α-globin gene, leading to inhibition of α-globin synthesis. If both α genes on a single 16th chromosome are missing (-), α-chain synthesis is completely inhibited, known as α0-thalassemia, or α-thalassemia 1; if only one α gene is missing (-α), α-chain synthesis can be partially produced, referred to as α+-thalassemia, or α-thalassemia 2. For your test results, it is recommended that you provide the detailed report to a professional physician for more thorough interpretation and guidance.