What is beta-thalassemia heterozygote?
Disease description:
During the classification of anemia, thalassemia was identified. Could you please explain what type of thalassemia is beta-thalassemia heterozygote?
Doctor's answer (1)
Dr. Liu Feng
β-thalassemia heterozygotes refer to individuals who carry the β-thalassemia gene but do not develop the disease itself; they are carriers of the β-thalassemia gene. Genetically, this condition occurs when an individual inherits one abnormal β gene from one parent and a normal β gene from the other parent.
Thalassemia is an autosomal recessive genetic disorder, and β-thalassemia results from a gene defect that causes reduced synthesis of β-globin protein chains.
β-thalassemia heterozygotes typically exhibit no obvious clinical symptoms and appear normal, with regular growth, development, and daily functioning. However, during routine blood tests, it may be observed that their mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) levels are lower than normal.
As carriers of the thalassemia gene, β-thalassemia heterozygotes do not show significant symptoms, but they have a risk of passing the mutated gene to their offspring. Therefore, prenatal diagnosis can help prevent the birth of children affected by severe β-thalassemia.
