–Dr. Stalin Ramprakash, Consultant, Paediatric Haematology, Oncology and BMT, Aster RV Hospital
Haemophilia is a genetic blood disorder due to which the blood does not clot properly. According to the last report by the World Federation of Haemophilia, there are about 17,000 reported such patients in India; however the actual numbers are likely to be much more, some estimate suggests about 70,000 patients.
This rare condition is often under-reported and under-diagnosed in India as many people do not have access to the right diagnostic, treatment facilities or educational resources, or some of the affected individuals with milder forms do not realise that they are suffering from this condition until adulthood.
People with hemophilia have a defective blood clotting mechanism due to which the body is unable to respond to injury appropriately. As a result, they are at a higher risk of suffering from prolonged bleeding post an injury and suffering from internal bleeding which may occur either spontaneously or following trivial injuries which would have been of no consequence in a normal individual. Depending on the severity, these bleeding episodes can become life-threatening or can lead to permanent damage to joints. Patients must be aware of early signs of bleeding so they can learn to manage it, respond to emergency situations quickly and seek medical attention appropriately.
There is no permanent cure for hemophilia at the moment and it is typically detected when a person suffers from an unexpectedly long spell of bleeding post-injury, unusual joint swellings and pain often during their early childhood teenage years or adulthood depending on the severity of the illness. There can be other signs such as bloody urine or stools, a tendency to have nose-bleeds or other internal bleeding episodes.
Haemophilia can either occur through a new genetic mutation or can be passed down through family genes. Therefore if there is a family history of hemophilia, prenatal diagnosis becomes an important step for expecting parents to evaluate the risk of the child developing the condition. It is more likely for men carrying the defective gene to feel the effects of the disease, while women are more likely to be carriers of the gene and generally do not suffer from the disease.
What Causes Haemophilia
The X chromosome carries the defective gene which causes Haemophilia, therefore affected fathers who carry it can pass on the gene to their daughters but not their sons, whereas mothers can pass it on to either gender offspring. Understanding their genetic profile will help an at-risk couple make conscious family planning choices. This is an important step because often people do not receive the required information based on which they can make an educated choice about continuing the pregnancy.
For couples who choose to go ahead, a dedicated plan is required to help anticipate complications and ensure the smooth and safe pregnancy and delivery of the mother and child. A male baby should be tested for Haemophilia with a blood test which will reveal the presence as well as the severity of the condition. A child with about five to forty percent of normal clotting factor is said to have mild hemophilia whereas a child with lesser than 1 percent of normal clotting factor has severe hemophilia.
Symptoms of bleeding in Haemophilia patients are usually managed with AHF’s (Anti Haemophilia Factors) otherwise called as factor concentrates. In emergency situations where there is uncontrollable bleeding, most major hospitals are equipped with fresh frozen plasma and cryoprecipitates which help manage and prevent bleeding quickly.
Patients with hemophilia are generally expected to take certain precautions to reduce the risk of having an emergency episode. Regular exercise to strengthen areas where internal bleeding is common, such as the joints, as well as choosing safe cardio activities such as jogging, fast walking, swimming etc, is important. Patients with hemophilia must take extra care to ensure that they have access to the right medical expertise and care in case of an emergency. Dedicated hemophilia care, a supportive and mindful community, self-awareness, being aware of the condition and nearby resources to manage it are some of the key requirements for a patient to manage his condition.
It is also important that we have more dedicated trained professionals in the field of blood disorders and encourage medical research for better treatment and management options as well as push for affordable and sufficient supply of AHFs for such patients. Early clinical trials are currently underway to study the efficacy and safety of newly developed gene therapy, if proven effective will be an enormous boon to hemophilia patients in the future where this therapy can potentially cure hemophilia permanently with a single injection.