What does heterozygous testing for thalassemia genes mean

heterozygous testing for thalassemia refers to an individual carrying a normal gene and a Mediterranean anemia mutation gene. Mediterranean anemia is a hereditary hemolytic anemia, mainly divided into two types: alpha and beta. Heterozygous individuals usually present as mild or asymptomatic carriers.

1. Genetic mechanism

Heterozygous status is caused by one parent inheriting a mutated gene. If both parents are heterozygous, the child has a higher probability of developing severe thalassemia. Genetic testing confirms heterozygous status by analyzing the mutation sites of HBA1, HBA2, or HBB genes. Common mutations include CD41-42, IVS-II-654, etc.

2. Clinical manifestations

Most heterozygotes with alpha or beta thalassemia have no significant symptoms, and some may experience mild anemia, manifested as hemoglobin levels of 90-110g/L and decreased red blood cell volume. Mild splenomegaly or gallstones may occur in rare cases, but no special treatment is required.

3. Significance of Detection

Gene testing can clarify mutation types and guide marriage and childbearing decisions. When both parties are heterozygotes with the same type of thalassemia, prenatal diagnosis is necessary to prevent the birth of severe thalassemia fetuses. The detection methods include Gap PCR, reverse dot hybridization, and gene sequencing techniques.

4. Fertility Intervention

High risk couples are recommended to undergo pre implantation genetic diagnosis or chorionic/amniocentesis. At present, healthy embryos can be screened through third-generation IVF technology to avoid the physical and mental damage caused by terminating pregnancy.

5. Long term management

Heterozygous individuals do not require treatment, but misdiagnosis of iron deficiency should be avoided, and regular monitoring of hemoglobin electrophoresis is necessary. It is recommended to receive pneumococcal vaccine to prevent infection and avoid the use of oxidizing drugs. Women need to strengthen monitoring of iron metabolism during pregnancy. Heterozygous individuals with thalassemia genes should maintain a balanced diet and increase their intake of foods rich in vitamin E and folate, such as nuts and dark green vegetables, in moderation. To avoid hemolysis caused by intense exercise, it is recommended to have a blood routine and hemoglobin electrophoresis recheck every 1-2 years. People of childbearing age should proactively inform their spouses of their carrying status and, if necessary, seek genetic counseling together.