What are the steps for testing for thalassemia in pregnant women?

As for pregnant women, everyone knows that they need to pay attention to many situations during pregnancy. Many people are very afraid of the thalassemia test for pregnant women. Thalassemia is somewhat hereditary, but the families of pregnant women are very worried about this aspect. Because it is somewhat hereditary, everyone is very concerned about these aspects of medical knowledge. What is the specific situation of the thalassemia test? Then let’s talk about the steps for the thalassemia test for pregnant women?

1. Pre-pregnancy screening: carriers are detected through blood routine tests, hemoglobin electrophoresis, etc.;

2. Genetic testing: Before or during early pregnancy, genetic testing technology is used to identify abnormal sites of α and β globin genes to prepare for prenatal diagnosis;

3. Prenatal diagnosis: Amniocentesis is performed during the second trimester (17-22 weeks) to obtain fetal cells. Genetic testing is used to determine whether the fetus has a missing or mutated α or β globin gene and its type, effectively preventing the birth of severe thalassemia or deformed children.

Treatment of thalassemia

1. General treatment

Pay attention to rest and nutrition, actively prevent infection, and appropriately supplement folic acid and vitamin E.

2. Blood transfusion and iron removal therapy

This method is still one of the important treatment methods.

Red blood cell transfusion

The small amount of transfusion method is only applicable to intermediate α and β thalassemia, and is not recommended for severe β thalassemia. For severe β thalassemia, medium to high amount of blood transfusion should be given from an early stage to make the growth and development of the child 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 chelating agent treatment should be given at the same time.

3. Iron chelating agents

Commonly used deferoxamine can increase the excretion of iron from urine and feces, but it cannot prevent the absorption of iron by the gastrointestinal tract. It is usually performed after regular red blood cell transfusion for 1 year or 10 to 20 units. If there is iron overload (for example, SF >1000μg/L) in the iron load assessment, the iron chelator deferoxamine will be started. 25 to 50 mg/kg per day is injected subcutaneously once every night for 12 hours or added to isotonic glucose solution for intravenous drip for 8 to 12 hours; long-term application 5 to 7 days a week or slow infusion in red blood cell suspension. Deferoxamine has little side effects, but allergic reactions are occasionally seen. Long-term use can occasionally cause cataracts and long bone development disorders. Excessive doses can cause vision and hearing loss. The combined use of vitamin C and chelators can enhance the effect of deferoxamine in excreting iron from the urine. The dose is 200rng/day.

4. 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. It should be performed after 5 to 6 years of age and the indications should be strictly controlled.

5. Hematopoietic stem cell transplantation

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

6. Gene activation therapy

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

The above describes the steps for testing thalassemia in pregnant women. The thalassemia test is very strict, and its specific steps are the details described above. I hope that this knowledge will be of great help to many people. For pregnant women, she should not worry too much, because this can affect the baby in the belly. The baby's development is very important, so everyone should not worry too much.