World Hemophilia Day: Ways to avoid hemophilia being passed from parents to children?

World Hemophilia Day: Hemophilia is caused by mutations in genes responsible for producing essential proteins for blood clotting (Image: Canva)

Hemophilia, a genetic disorder affecting blood clotting, can be extremely concerning for families with a history of the condition. While there is no guaranteed way to prevent its legacy, several strategies can significantly reduce the risk.

Hemophilia is caused by mutations in genes responsible for producing essential proteins for blood clotting. One of the most common types, hemophilia A and B, result from mutations in the F8 and F9 genes, respectively, says Dr Vijay Ramanan, Sr. Consultant Clinical Hematologist, Director Clinical Hematology, Bone Marrow & Stem Cell Transplant, Ruby Hall Clinic, Pune.

These mutations are typically inherited in an X-linked recessive pattern, meaning the gene responsible is located on the X chromosome. As a result of genetic differences, males are more commonly affected while females can carry the gene without showing symptoms, says Ramanan.

The expert also suggests ways to avoid hemophilia being passed from parents to children:

Genetic counseling: A medical expert with expertise in genetics can offer details regarding the possibility of hemophilia being inherited, the testing techniques available, and the consequences for subsequent pregnancies.

Pre-Implantation Genetic Diagnosis (PGD): This method checks embryos for genetic abnormalities before implantation during in vitro fertilization (IVF). This makes it possible for parents who are hemophiliacs to choose embryos without the mutation.

Prenatal testing: To find out if the fetus has inherited hemophilia, prenatal testing can be carried out for couples who are already expecting. With this knowledge, parents can make educated decisions regarding their pregnancy and prepare for the likelihood of having a hemophiliac child.

Utilising donor eggs or sperm: If one partner has the hemophilia gene and the other does not, the chance of the illness being passed on can be eliminated by utilising donor eggs or sperm from the non-genotypical individual.

Adoption: If a couple is concerned about giving their own children hemophilia, adoption is an additional alternative. They can start a family without running the risk of passing on the genetic condition by adopting a child.

Gene therapy: While still in its infancy, gene therapy has promise in the treatment of hereditary conditions such as hemophilia. Gene therapy involves introducing a functioning copy of the defective gene into the body in an attempt to fix the genetic mutation and stop hemophilia from developing in subsequent generations.