Patient's question:
Doctor, my thalassemia gene test result is a heterozygous mutation of the β654 gene. My second child is already eight months old. Now, could you please help me review my husband's complete blood count test results? Does he need to be tested for thalassemia? Can a complete blood count reveal whether someone has anemia? I looked at my husband's complete blood count test results, and it doesn't seem like there is any suspicion of thalassemia, right? Thank you.Doctor's answer:
654 is a mutation of mild nature, and since it is a heterozygote (meaning one normal β-globin gene and one carrying the 654 mutation), it is a genotype for mild anemia. Severe anemia requires both genes to carry mutations of a more severe nature. Moderate anemia at least requires one gene to carry a mutation of a more severe nature, and in most cases, both genes are affected, so the diagnosis is very clear. Your child may not have anemia, or may only show mild anemia. It is recommended to take your child for consultation and examination, and then follow the doctor's advice.