Can a person with thalassemia have a baby?

Thalassemia is a relatively rare disease with a low cure rate. It causes great harm to the human body. Many patients die because it cannot be cured. Not only that, thalassemia is a hereditary disease, and many children with thalassemia are caused by genetics. So, can people with thalassemia have children? How should patients with thalassemia be treated? The following will provide detailed answers to these questions.

Can a person with thalassemia have a baby?

Because thalassemia is a genetic disease, patients are most worried that the disease will be passed on to their children. It is generally believed that thalassemia is a genetic disease, and patients are not recommended to have children. However, if thalassemia patients carry different types of thalassemia genes, they can have children, so thalassemia patients are fertile.

Thalassemia is caused by a genetic defect. As long as one parent is a thalassemia carrier, the child may have the disease. The specific inheritance probabilities are as follows: If a carrier of thalassemia minor marries a normal person, their offspring have a 50% chance of becoming a carrier of thalassemia minor. When a person with thalassemia statica marries a person with thalassemia minor, there is a 1/4 chance of giving birth to a child with thalassemia. If a couple is a carrier of the same type of thalassemia gene, each time they are pregnant, there is a 1/4 chance that the fetus will be normal, a 1/2 chance that the fetus will be a gene carrier, and a 1/4 chance that the fetus will be a patient with severe thalassemia. However, if the couple carries different types of thalassemia genes, or only one of them carries the thalassemia gene, the child born will not have thalassemia.

However, pregnant women with severe thalassemia should pay special attention. If examination confirms that the fetus has severe thalassemia, it is best to perform artificial insemination and terminate the pregnancy. If the test results show that the fetus' genes are normal or that it has mild thalassemia, you can continue the pregnancy and give birth with peace of mind. Mild thalassemia does not require special treatment, while intermediate and severe thalassemia can be treated with blood transfusion and iron chelation. In daily life, pay attention to rest and nutrition, actively prevent infection, and appropriately supplement folic acid and vitamin E.

Treatment of the genetic disease thalassemia

It is generally believed clinically that mild thalassemia does not require special treatment. Thalassemia intermedia and major should be treated with one or more of the following methods.

1. General treatment of thalassemia

Pay attention to rest and nutrition, and actively prevent infection. Appropriate supplementation of folic acid and vitamin E.

2. Drug treatment of thalassemia

This method is still one of the important treatment methods.

1. Red blood cell transfusion: Small-volume transfusion is only applicable to intermediate α and β thalassemia, and is not recommended for severe β thalassemia. For severe β-thalassemia, medium or high-volume blood transfusions should be given from an early stage to enable the child to grow and develop close to normal and prevent bone lesions. The method is: first repeatedly transfuse concentrated red blood cells to make the child's hemoglobin content reach 120-150g/L; then transfuse concentrated red blood cells 10-15ml/kg every 2-4 weeks to maintain the hemoglobin content above 90-105g/L. However, this method can easily lead to hemosiderosis, so iron chelation therapy should be given at the same time.

2. Iron chelators: deferoxamine is commonly used, which can increase the excretion of iron from urine and feces, but cannot prevent the absorption of iron by the gastrointestinal tract. Iron load assessment is usually performed after regular red blood cell transfusion for 1 year or 10 to 20 units. If iron overload is present (eg, SF >1000 μg/L), iron chelation is initiated. Deferoxamine is administered at a daily dose of 25-50 mg/kg, once every night, as a continuous subcutaneous injection for 12 hours, or added to isotonic glucose solution and dripped for 8-12 hours; 5-7 days a week, for long-term use. Or add to red blood cell suspension and infuse slowly. The side effects of deferoxamine are minor, but allergic reactions may occur occasionally. Long-term use may cause cataracts and long bone development disorders, and excessive doses may cause vision and hearing loss. The combined use of vitamin C and chelating agents can enhance the effect of deferoxamine in excreting iron from the urine, with a dose of 200rng/day.

3. Splenectomy

Splenectomy has a better effect on hemoglobinemia and intermediate β-thalassemia, but a poor effect on severe β-thalassemia. Splenectomy can weaken the immune function and should be performed after the age of 5 to 6 years and the indications should be strictly controlled.

4. Hematopoietic Stem Cell Transplantation

Allogeneic hematopoietic stem cell transplantation is currently the only method that can cure major β-thalassemia. If an HLA-matched hematopoietic stem cell donor is available, it should be the preferred method for treating major β-thalassemia.

5. Gene Activation Therapy

The application of chemical drugs can increase the expression of γ gene or reduce the expression of α gene to improve the condition of β-thalassemia. Drugs that have been used in clinical practice include urea, 5-azacytidine (5-AZC), cytarabine, myleran, isoniazid, etc., and are currently being explored.