We think nothing of it when we bleed when we fall or suffer an injury. But for some, such an incident can be fatal. They suffer from Haemophilia. April 17 is observed as World Haemophilia Day to increase awareness about haemophilia and other bleeding disorders.
You’ll be surprised to know that Haemophilia is the oldest known inherited bleeding disorder. It was associated primarily with the royal families of Europe, hence is referred to as the Royal disease. Although a cure still eludes us, there have been rapid improvements in treatment.Being an haemophiliac places some limits on a person’s ability to engage in certain activities. However, with grit, determination and some elementary precautions, one can live a normal life, as many haemophiliacs around the world today do.
What haemophilia is
Haemophilia is a group of hereditary genetic disorders that impair the body’s ability to control bleeding. This can be ascribed to either a deficiency or a complete absence of certain clotting factors [proteins that help blood clot]. This has obvious implications— easy bruising and excessive bleeding. Blood might take a long time to clot after an injury or an accident. Haemophiliacs might also bleed internally especially in joints, muscles and vital organs like the brain. These bleeds cause painful joint deformities, pseudo tumours and brain damage leading to permanent disability and even death.
Haemophilia results from a defect in one of the genes that determine how the body makes certain clotting factors. The genes are located on the X chromosomes that determine the gender of the child.
Now, females possess two X chromosomes whereas males have one X and one Y chromosome. A woman carrying the defect on one of her X chromosomes will usually have a normal ‘back up’ copy of the gene on the other chromosome, which expresses itself to produce the required clotting factors. Women haemophiliacs, therefore are rare because it takes two defective X chromosomes for the condition to manifest itself.The Y chromosome in men, on the other hand, has no gene for factors VIII or factor IX [clotting factors]. If the genes responsible for the production of factor VIII or factor IX on a male’s X chromosome are deficient, there is no ‘back up’ copy available on his Y chromosome. Males will therefore almost always develop the disease.
Since a male receives his single X chromosome from his mother, the son of a ‘carrier mother’ [healthy female carrying the deficient gene] has a 50 per cent chance of inheriting the disease from her [50 per cent because he might also inherit the other normal X chromosome].
Types of haemophilia
The condition may be mild, moderate or severe depending on how much of the clotting factor is missing. In severe haemophilia, spontaneous and prolonged internal bleeding occurs into joints and muscles. Furthermore, there are various types of haemophilia depending on the missing clotting factor.
Haemophilia A represents 90 per cent of the haemophilia cases. It is an X-linked genetic disorder involving a lack of functional clotting factor VIII.
Haemophilia B [Christmas disease] is less severe than Haemophilia A. This is an X- linked genetic disorder involving a lack of functional clotting factor IX.
Haemophilia C is an autosomal [pertaining to a chromosome that is not a sex chromosome] recessive genetic disorder involving a lack of functional clotting factor XI.
Although haemophilia is not curable, it can be effectively managed with regular infusions of the deficient or missing clotting factors [factor VIII or factor IX depending on the type of haemophilia]. These factors can either be human blood serum isolates, recombinants [artificial DNA] or a combination of the two. This is called Replacement Therapy.
Sometimes it is required to give replacement therapy on a long-term basis to prevent bleeding. People with severe haemophilia usually receive this type of preventive replacement therapy. Those with milder haemophilia, on the other hand, are usually given replacement therapy when the need to stop bleeding arises.Individuals are required to do exercises to strengthen the joints [elbows, knees and ankles], increase flexibility, tone and strengthen muscles. This increases the ability of the muscles to protect joints from damaging bleeds.
Newer forms of treatment have made serious infections from the use of blood-derived additives a thing of the past. A new recombinant DNA derived clotting factor [anti-haemophilic factor VIII] is being produced without using additives derived from human or animal blood provides. This eliminates any theoretical infection risks that may arise from the use of blood-derived additives. Thus, with this recombinant DNA derived clotting factor, transmission of Hepatitis B, Hepatitis C or HIV [common with plasma-derived products] has effectively stopped.
Living with haemophilia
Although having haemophilia does mean that there are certain ‘dos and don’ts’ that will often define what you can or cannot do, it can hardly place limits on the nearly infinite zeal and zest for life that these people so often display.
It is of prime importance that children, who form an overwhelming number of haemophiliacs, are kept informed about all the aspects of the disease. This goes hand in hand with regular health and dental care and emotional and psychological support.
The imminent danger of a bleed rules out contact sports for children with severe haemophilia. It becomes particularly important to ensure that their energies get an appropriate outlet. This is where family and friends play an important role. Helping a child focus on the positive can be accomplished with a slight shifting of emphasis— emphasising on what he can do thereby taking him away from worrying about what he cannot, can be quite empowering for the child.For medical science, haemophilia may be about life threatening bleeding, painful joint deformities and possible brain damage, but for haemophiliacs, it is about fortitude, an indomitable spirit and a never-say-die attitude.
Children with haemophilia
Children need to be protected from injuries that may result in bleeding and hence should know that he or she has the disease. Here are some points you need to remember while dealing with them.
- Protect toddlers with kneepads, elbow pads, and protective helmets. All children should wear safety helmets when riding tricycles or bicycles.
- Be sure to use safety belts and straps in highchairs, car seats, and strollers to protect the child from jerks and falls.
- Remove furniture with sharp corners or pad them to ensure that toddlers stay safe.
- Check play equipment and outdoor play areas for possible hazards.
- You also need to learn how to examine your child for and recognise signs of bleeding as well as prepare for bleeding episodes when they do occur.
- Keep a cold pack ready in the freezer to use as directed or to take along with you to treat bumps and bruises.
- You might want to keep a bag ready to go with the items you will need if you must take your child to the emergency room or elsewhere.
Von Willebrand’s disease
Von Willebrand’s Disease [vWD] is a bleeding disorder that affects both males and females. It results from the deficiency of Von Willebrand’s factor [vWF], which has an important role in blood clotting. vWF makes the platelets stick together thereby helping blood clot.
Mild conditions are characterised by bruising and prolonged bleeding from the nose, mouth and gut and heavy periods. In the rare severe forms, Von Willebrand’s Disease can also result in symptoms similar to severe haemophilia.