Amniotic test finds Hemophilia gene in pregnant women, identifys hemophilia

Hemophilia is a heredoma, leaving a lot of severe, even premature death. However, the disease has a special genetic mechanism so it is possible to terminate the transmitted disease gene later with pre-birth diagnostic tests.

Hemophilia is a genetic bleeding disorder caused by a deficiency or decrease or abnormality factor VIII (for Hemophilia A) or factor IX (for Hemophilia B) – which are essential factors for the process of creating blood clots. The highlight of the disease is the bleeding throughout the positions of the body, typically in the muscles and joints,…

Blood not only flows due to injury, but in severe cases can flow on its own. On average, severe patients can bleed 40 times a year and there are cases where the cost of one treatment is up to VND 1-2 billion. If diagnosed early and fully treated, patients with hematoma can live and work almost normally. If not treated, the patient is always in pain, inability to work, can lead to disability, even premature death.

Each pregnancy, the mother carries the Hemophilia gene capable of transmiting the gene to the next life. In case the disease gene is transmitted to the son, the son will have Hemophilia. If passed on to girls, girls will carry the Hemophilia gene.

When married to the average person, a woman carrying the Hemophilia gene has a 25% chance of giving birth to a daughter carrying the disease gene and a 25% chance of giving birth to a sick son. As such, women who carry the disease gene who want to have children with normal healthy people still have a 50% chance of giving birth without or carrying the disease gene. If you have Hemophilia and your mother is normal, you'll give birth to all your daughters who carry the disease gene, and all boys don't have Hemophilia. There are rare cases where the father has Hemophilia, the mother is a mother who carries the disease gene, can give birth to a daughter with Hemophilia.

Hemophilia is a heredi genetic disease. However, about one-third of patients have the disease not genetically but by mutations, which convert normal genes into disease genes, and this disease gene is also genetic to the next generation.

Hemophilia has a special genetic mechanism so it is quite possible to terminate the disease gene in the family by pre-birth diagnosis. People with hematoma can get married, give birth normally. Subjects who need a blood test for rsmophilia are people with suspected Hemophilia, couples who already have sick children, and families with sick relatives.

Based on the genetic mechanism, to eliminate the disease gene, as long as the sick father does not give birth to a daughter. As for women carrying the disease gene or both spouses carrying the disease gene, at the gestational period the woman needs to make a pre-birth diagnosis. Before proceeding to marriage, patients need to go to a specialized medical facility for pre-marital counseling, general diagnostic tests, the degree of illness and receive pre-birth counseling,… to give birth to healthy children, to suppress the disease gene that exists in the family.

Amniotic fluid tests can also detect fetal chroma abnormalities, thereby identifying hematoma. The duration of the amniotic test for the right Hemophilia gene is at weeks 15 – 20 of pregnancy. The doctor will use a tool such as a long needle, poke the pregnant woman in the abdomen, remove some amniotic fluid for testing without harming the baby. The amniotic puncture process is quick, simple and usually painless so there is no need for anesthesia.

However, DNA testing or quanc quantity factor VIII of the fetus or pre-embryo transplant diagnosis is the best method to detect and eliminate the risk of children with hematoma. These methods help to create embryos that do not carry the hemophilia gene.

The doctor will take the measure of selecting healthy embryos, not carrying the disease gene of the hemophilia patient's wife or the woman who carries the Hemophilia gene and then implanted it in the mother's uterus. From there, the baby born will be completely healthy, not carrying the disease gene and ending the genetic status of Hemophilia in the family.

Source: National Institute of Hematology and Blood Transfusion