Haemophilia is a rare genetic disease that affects the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding longer after an injury, bruising, and an increased risk of bleeding inside joints or the brain. April 17 is observed worldwide every year as World Haemophilia Day to increase awareness on Haemophilia and other inherited bleeding disorders.
What makes haemophilia a concern is that currently there is no cure and the disease can only be managed to improve the quality of life. Patients can present with various symptoms and not just bleeding. Severity can vary from life-threatening, seemingly unprovoked bleeding episodes to those leading normal lives for many years, until a serious injury or a routine medical procedure suddenly starts off uncontrolled bleeding.
The disease is genetically transmitted from parent to the child and hence there may be a history of another affected family member but in one-third of cases, there may not be any such history as it may be due to new mutation. Men who have inherited Haemophilia pass on the gene to their daughters, but not their sons. Women, who carry the haemophilia gene, may pass the gene on to their sons and daughters. Haemophilia is due to a defective gene in the X chromosome. As women have two X chromosomes, they are not generally affected and can act as carriers. On the other hand, as men have only one X chromosome, if they get the defective gene they are affected. India has the second highest number of Haemophilia patients in the world according to the World Federation of Haemophilia (WFH) and a good percentage of them remain undetected and undiagnosed. India has around 17,000 Haemophiliacs according to the Federation. Being a rare disease, many Haemophiliacs don’t know they are suffering from the disease since childhood. It is therefore important to spread awareness about the disease as well as educate new couples who might produce a child with haemophilia without realising it. A couple entering into marriage with plans of bearing children must undergo premarital genetic testing to gauge the risks of delivering a child with Haemophilia, if there is family history of bleeding disorder. Accordingly, the couple can make well informed family planning choices.
Women, who know they are carriers, or might be carriers, may have options for prenatal diagnosis to obtain information on foetal status. If foetus is affected, the family can then decide whether to continue with the pregnancy or proceed to a medical termination. Often, the choices are not offered to the family in time to make a meaningful intervention. If a mother is known to be a carrier, a haematologist should be involved in supervision of pregnancy as part of the multidisciplinary team along with the obstetrician, well before delivery. There has to be a written birth plan in place for delivery after discussing with the family, the advantages and disadvantages of normal delivery vs caesarean section, and neonatal team needs to be involved in birth plan to ensure safety of mother and the baby. The plan should also clarify what should happen if the mother goes into labour early. After delivery, a cord blood sample will be used to check if a male baby has Haemophilia.
Symptoms
There are various symptoms such as pain or swelling in joints, excessive bleeding, blood in urine or stool, heavy or prolonged periods, nose bleeds or internal bleeding. Mostly, the disease is detected when a person bleeds for a long time after an injury. The disorder is sometimes fatal due to late referrals and this is because of the lack of awareness of the disorder. In a known patient, the bleeding symptoms can be managed using Anti Haemophilia Factors (AHFs). During first presentation, as emergency treatment, doctors may use fresh frozen plasma and Cryoprecipitates which are generally stored in most major hospitals.
General Precautions
There are some general precautions that one should take if one is afflicted with Haemophilia. Some of these are:
With advanced treatments available now, the disease can be treated, though there may not be a permanent cure at least in the near future. We recently came across a 4-year-old boy who had been to multiple doctors with episodes of joint swelling affecting various joints at different times. Only clue in his clinical history was that there was one episode of prolonged bleeding after he bit his tongue one year earlier. Based on that, we investigated him and confirmed the diagnosis of haemophilia. He was started on appropriate treatment and his life changed for the better.
The disease can be managed with close supervision, adequate care, patient education. The access to AHFs and affordability are crucial. In some states in India, full AHFs support is available though the supply is not always consistent. Support groups for haemophilia have contributed greatly to creating awareness among patients and organising treatment centres. Dedicated training in Haemophilia management for medical professionals seeking expertise in this area, encouraging clinical research to provide affordable care, and commitment from healthcare authorities are crucial to ensure those affected with haemophilia live a productive and wholesome life.
Dr. Stalin Ramprakash is a Consultant, Paediatric Haematology, Oncology & BMT at Aster CMI Hospital.