Haemophilia is an inherited blood disorder in which the blood does not clot and the bleeding disorders are due to defects in the blood vessels, the coagulation mechanism, or the blood platelets. An individual who is suffering from the disorder may bleed spontaneously and doesn’t clot or may bleed for longer period as compared to normal, healthy person.
It is the condition where an individual is having deficiency of the clotting factor. When coagulation factors are missing or deficient, the bleeding continues.
There are two main types of Haemophilia – Haemophilia A and Haemophilia B
Why do we need prenatal counselling?
Literature suggests that in India approximately 1 in 5,000 males are born with Haemophilia A and 1 in 30,000 males are born with Haemophilia B. Haemophilia affects people of all races and ethnic origins globally. This is the gene X- linked condition where virtually males are the sufferers and the females are carriers. People with haemophilia have a genetic mutation in the affected gene on the X- chromosomes, which results in reduced production of factor VIII or IX and creates a bleeding tendency, because coagulation takes much longer than normal.
A female who inherits the affected X- chromosomes becomes a carrier of Haemophilia. She can pass the affected gene to her children.
Prenatal counseling helps parents and families to understand the diagnosis and its implications. This is particularly important for the reproductive choices of the people who have haemophilia or are carriers and want information about natural, assisted and non-reproductive opportunities available for the family planning, and help early preparation for the possibility of having a child with haemophilia.
So to avoid further complications and for a healthy pregnancy outcome with a healthy baby, prenatal counseling about haemophilia is a good initiative to make the parents aware about the consequences so that they are able to take an informed decision.
In developed countries, there are special genetic counselling departments who help the families to become aware about the condition and to have improved outcome. The team consist of haematologists or blood specialists, nurses, social workers, physical therapists and health care providers who help the families to understand the condition, its prevention and treatment.
The prenatal tests for diagnosing Haemophilia
- Chorionic villus sampling (CVS)
- Foetal blood sampling
- Maternal blood test
If you have any history of Haemophilia in your family consult your gynaecologist today if you are expecting or planning a family.