Haemophilia is a rare yet very dangerous disease characterised by difficulties in blood coagulation. After receiving this diagnosis, many parents wonder whether this is a hereditary disease or not. The answer to this question is positive because it is a genetic condition. At the same time, understanding the way in which haemophilia may be inherited is essential.
How is haemophilia inherited?
According to Dr Arushi Agarwal, Consultant Pediatric Haematologist & Oncologist, Asian Hospital, "It is known that haemophilia is associated with abnormal genes that lead to the deficiency of certain factors contributing to stopping the process of bleeding. This disease is genetically transmitted as a result of an X-linked recessive trait. In other words, this means that the mutation leading to the development of haemophilia takes place within the genes of the X chromosome. Males have only one X chromosome while females have two of them, which is why males inherit haemophilia more frequently than women."
"Haemophilia is more common in males than in females. Females, on the other hand, act as carriers. However, in some instances, females do present with the disease if both of their X chromosomes carry the gene or if any one of them is dormant", she added.
Can haemophilia occur without family history?
When a mother is a carrier, the chances of her male child having haemophilia are 50%, and the likelihood of her female child being a carrier is also 50%. When the father suffers from haemophilia, the daughters are bound to be carriers of the disease. None of the sons will inherit the disease, as the Y chromosome comes from the father.
What is crucial for parents to know is that not all individuals suffering from haemophilia are necessarily afflicted through inheritance. It is observed that 30% of cases suffer from spontaneous mutations. There is a possibility that the patient may not have a family history of the disease at all.
Common symptoms of haemophilia
Haemophilia symptoms depend on its seriousness. Some of them include frequent nosebleeds, heavy bleeding from minor cuts, bruises, and in serious cases, joint and muscle bleeding. It is crucial to diagnose the disease early to avoid complications like joint damage and internal bleeding.
Importance of early diagnosis and treatment
According to Dr Arushi, "Parents should be vigilant if they observe any unusual bleeding symptoms in their offspring. Early diagnosis and proper treatment will go a long way in improving the quality of life for kids who suffer from haemophilia." Managing haemophilia has evolved greatly in recent years. The treatment usually entails administering injections to replace the deficient factor. With the developments in medicine, kids with haemophilia can live fairly ordinary and active lives nowadays.
For couples considering starting a family, it is necessary to seek the help of genetic counsellors. They would be able to assist you in determining the chances of passing on the disease to any offspring that you may have and give you information regarding what you can do about it.
Disclaimer: Dear readers, this article provides general information and advice only. It is not at all professional medical advice. Therefore, always consult your doctor or a healthcare specialist for more information. TheHealthSite.com does not claim responsibility for this information.
