Is thalassemia related to chromosomes?
Disease description:
I was diagnosed with thalassemia during a premarital medical checkup today, while my husband was found not to have it. I would like to ask, is thalassemia related to chromosomes?
Thalassemia is related to chromosomes.
1. Thalassemia, also known as Mediterranean anemia, is a hereditary hemolytic disease primarily caused by mutations in globin genes on the chromosomes. These mutations lead to reduced or absent synthesis of the corresponding globin chains, resulting in abnormal hemoglobin structure.
2. The genetic characteristics of thalassemia are reflected in the deletion or mutation of certain thalassemia genes on the patient's chromosomes. Depending on the affected globin chain, thalassemia can be classified into several types, among which alpha-thalassemia and beta-thalassemia are the most common.
3. The severity and clinical manifestations of thalassemia are related to the number of defective genes carried by the patient. For example, alpha-thalassemia may be caused by deletion or mutation of the alpha-globin gene, while beta-thalassemia is mainly caused by gene mutations.