Can pregnant women be screened for hemophilia?

Question

Hello doctor,

I am a 29-year-old female, and my father lived with hemophilia, but I do not have any such symptoms. I wanted to inform you that I am two months pregnant.

Is there a possibility that it might transfer through my genes to my child?
Is that possible?
How does hemophilia occur?
What are its risk factors?
Can that be screened before the child is born?

I have seen my father suffer from that disease, and I do not want my child to suffer. If there are ways to prevent this from happening, it would be helpful. I need your guidance on this.

Kindly help.

Answer 1

Hello,

Welcome to icliniq.com.

Congratulations on your pregnancy.

I read your query and can understand your concern.

Hemophilia is a genetic disorder caused by mutations in the F8 or F9 genes, which are responsible for producing clotting factors (factor VIII or IX). These mutations are carried on the X chromosome, so hemophilia is often inherited in an X-linked recessive pattern:

Women (like you) may carry the mutation but usually do not show symptoms because they have a second, unaffected X chromosome.
Men with the mutation (like your father) develop hemophilia because they have only one X chromosome.

Since your father had hemophilia, you are very likely a carrier of the gene mutation. This means:

If you are a carrier, there is a 50 percent chance of passing the gene to your child.
Sons who inherit the mutated gene may have hemophilia.
Daughters who inherit the gene may become carriers like you.

Hemophilia occurs due to insufficient clotting factors in the blood, which leads to prolonged bleeding.

Hemophilia A: Factor VIII deficiency (more common).
Hemophilia B: Factor IX deficiency.

A blood test can check if you carry the gene mutation.

Genetic counseling is recommended.

Non-invasive Prenatal Testing (NIPT): A blood test that can check for genetic abnormalities in the fetus.
Chorionic Villus Sampling (CVS) or Amniocentesis: These invasive tests can detect hemophilia in the baby but carry a small risk of complications. They are done only if there is a strong reason to suspect the child might have hemophilia.

Hemophilia cannot be prevented, as it is a genetic condition. However, the risk can be managed by:

Preimplantation Genetic Testing (PGT): If you are planning future pregnancies and are open to in-vitro fertilization (IVF) combined with PGT, you can identify embryos without the mutation. Consult an obstetrician, a genetic counselor, and a hematologist.
Avoid vacuum or forceps delivery, which could risk bleeding in the baby.
If the baby is at risk, a cesarean section may be preferred.

Take care, and I wish you and your baby the best of health.

I hope I have answered your question.

Let me know if I can assist you further.

Regards.