What does heterozygous testing for thalassemia genes mean?

heterozygous detection of thalassemia genes refers to an individual carrying a normal gene and a Mediterranean anemia mutation gene, which is a genotype expression of mild Mediterranean anemia.

1. Genetic characteristics

Heterozygous status follows the rule of autosomal recessive inheritance. If both parents are heterozygous, there is a probability that the offspring will develop severe thalassemia. This genotype does not cause typical anemia symptoms, but may manifest as mild reduction in red blood cell volume or hemoglobin content.

2. Clinical manifestations

Most heterozygous carriers have no significant symptoms, and some individuals may experience mild fatigue during intense exercise, pregnancy, and other situations. Hematological examination showed an average red blood cell volume of 60-80 fL, and hemoglobin electrophoresis showed a mild increase in HbA2 to 3.5-7%.

3. Significance of Detection

Gene testing can clarify the type of alpha or beta globin gene mutation. Common detection methods include PCR reverse dot hybridization, gene sequencing, etc. It is particularly important for people of childbearing age to assess the risk of disease in their offspring, and it is recommended that spouses undergo genetic screening simultaneously.

4. Fertility guidance

If both husband and wife are heterozygous with the same type of gene mutation, there is a 25% chance of giving birth to a child with severe thalassemia during each pregnancy. Prenatal diagnostic techniques such as chorionic villi sampling and amniocentesis are required for fetal genetic analysis, and pre implantation genetic diagnosis may be considered if necessary.

5. Health management

Heterozygous status usually does not require special treatment, but long-term exposure to oxidative drugs should be avoided. It is recommended to have a blood routine check every 1-2 years, and women should strengthen iron metabolism monitoring during pregnancy to prevent misdiagnosis as iron deficiency anemia and blind iron supplementation.

It is necessary to maintain a balanced diet in daily life and moderately increase foods rich in vitamin E and folate, such as nuts and dark green vegetables. Avoid hemolysis induced by strenuous exercise, and vaccinate against infectious diseases. Couples of childbearing age should complete genetic testing consultation before pregnancy, and medical institutions can provide genetic risk assessment and intervention plans.