Thalassemia is a genetic disorder
that causes abnormalities in red blood cells, leading to their shorter lifespan. This results in chronic red blood cell deficiency and severe anemia. Thalassemia is commonly found in Southeast Asia, including Thailand.
Thalassemia is passed down genetically from parents to children. It is caused by defects in the genes that regulate hemoglobin production, which impacts the function of red blood cells. If one or both parents carry the thalassemia gene, their child has a chance of inheriting the defective gene.
Transmission of thalassemia from mother to child.
The transmission of thalassemia from parent to child depends on the carrier or disease status of both the mother and the father.
- If the father is a carrier of thalassemia but the mother is not a carrier, the child will have a 50% chance of being a thalassemia carrier but will not develop severe thalassemia.
- If both parents are carriers, the child has a 25% chance of developing severe thalassemia, a 50% chance of being a carrier, and a 25% chance of not inheriting the defective gene and being free of the disease.
- If the mother has severe thalassemia but the father is not a carrier, all the children will inherit the carrier gene from the mother, but they will not develop severe thalassemia.
- If the mother has severe thalassemia and the father is a carrier or also has thalassemia, the child has a high chance of developing severe thalassemia.
Thalassemia screening before IVF (in vitro fertilization) is crucial to prevent passing on this hereditary condition to the child. Thalassemia is a genetic form of anemia that may affect the child’s hemoglobin production. If either parent is a carrier of the thalassemia gene, the child may also have the potential to inherit the disease or be a carrier.
Steps for thalassemia screening before IVF
Blood tests for both parents
Both parents undergo blood tests to determine whether they are carriers of the thalassemia gene. If one partner is found to be a carrier, further genetic testing is conducted.Genetic testing
If both parents are carriers of the thalassemia gene, there is a risk that the child may inherit thalassemia. Genetic testing is necessary to assess the risk of the child developing the disease.Preimplantation Genetic Diagnosis (PGD)
During IVF, embryos can be tested before implantation to select those free from thalassemia.
Benefits of thalassemia screening
- Reduces the risk of passing thalassemia to the child
- Increases the chances of having a healthy baby
- Enables early planning for treatment or prevention if risks are identified in the embryo
Thalassemia is a genetic disorder that affects hemoglobin production, leading to anemia and severe health issues. Screening for thalassemia carriers before IVF is essential, especially in preventing the transmission of this condition to the child. Blood and genetic testing can identify risks, and PGD testing of embryos can help couples who are carriers of the thalassemia gene have a healthy baby.
Consulting a specialist before pregnancy helps reduce risks and increases the chances of having a healthy child.
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