World Haemophilia Day today

Supported by World Federation of Haemophilia (WFH), Haemophilia awareness day was started in the year 1989 and April 17 was chosen in honour of Frank Schnabel’s birthday, the founder of WFH. Haemophilia is a rare bleeding disorder in which the blood doesn't clot normally, a condition in which bleeding is prolonged. A disorder present from birth and is normally inherited. In some rare instances, Haemophilia may develop later in life (typically affecting people in the 50+ age group).

There are two types of hemophilia. Each type is linked to a low level of a certain clotting factor. Haemophilia A is the more common type and is linked to low levels of clotting factor VIII. Haemophilia B is more rare and is associated with low levels of clotting factor IX. Haemophilia is diagnosed by taking a blood sample and testing the levels of clotting factor VIII & IX.

Each type of Haemophilia causes prolonged bleeding which is the main symptom of hemophilia. Bleeding can range from mild to severe. Bleeding is often internal, although people can bleed outside the body too. Other symptoms include spontaneous bleeding, bleeding into the muscles or joints, bleeding for a prolonged period after having surgery, having a cut or dental work, and big bruises. In very mild cases, bleeding may be for a shorter duration and only arise after injury or surgery.

In severe cases, bleeding is spontaneous, with no obvious cause and is more frequent (around one to two times a week). In severe cases, bleeding may go into the joints and muscles of the muscles of the body. Further symptoms may include, swelling, pain and stiffness, an ache or problems using the muscle or joint. Repetitive bleeding into a joint can also cause arthritis.

Left untreated, severe cases of Haemophilia can lead to an early death. However, there are successful treatment options available, and if managed, people with Haemophilia are largely unaffected by this condition living full and healthy lives. Treatments for Haemophilia involve injecting the missing clotting factor into the bloodstream.

Unfortunately, there are many people in the world, who receive poor treatment or no treatment at all, for Haemophilia and related bleeding disorders. According to the World Federation of Hemophilia, about 1 in every 1000 person has a bleeding disorder; many are left untreated. The aim of World Haemophilia Day is to raise awareness about Haemophilia and increase the availability of treatments for this condition around the world.

As with many other awareness campaigns, a simple but effective slogan is used to help raise awareness for the issues concerned. The slogan for World Haemophilia Day is 'Close the gap', which reflects the difference in treatments available to people living in different parts of the world. By working together, it is hoped that we can close the gap of Haemophilia care around the world. 'Close the Gap', is an apt phrase; when blood clots, a 'gap' is closed which stops bleeding.

Dr SVSS Prasad

Haemophilia is an inherited disorder and therefore is usually identified in childhood itself, between nine months and two years of age. Like most genetic disorders, it is not curable. Hence an understanding of the disorder by the patient and his family can help maintain an active and productive lifestyle. The intensity of Haemophilia in an individual depends on the level of clotting factors present in his body. This clotting factor level estimation is called ‘Factor Assay’.

This level too is genetically determined and is constant throughout life. Depending on the level, the Clotting factor deficiency can be mild, moderate or severe. It is the severely deficient hemophiliacs that are at maximum risk. The child or patient presents with one or more of the symptoms like prolonged or excessive bleeding from injuries, or surgery, or dental procedures; bruises, pain and swelling in joints, commonly knees and ankles and sometimes elbows, hips and shoulders and nosebleeds or gum bleeds.

Though Haemophilia is an inherited condition in the majority, in 30 per cent of the cases it is caused by a change in the genes called spontaneous mutation. In other words, a patient with excessive bleeding needs to be evaluated for Haemophilia and clotting factor deficiency, even though there is no family history. An female with a family history of Haemophilia and who is pregnant or intending to conceive should consult a doctor for genetic testing and exclusion of occurrence of Haemophilia in the fetus.

In such a case where fetus is effected or likely to be affected, medical termination of the pregnancy can be considered. The gene that causes Haemophilia is located on the sex chromosome X. A female has two X chromosomes, one from her mother and the other from her father. The chromosome that is normal is dominant and hence a female will not manifest Haemophilia (i.e. there are no signs or symptoms of bleeding), but only remains a carrier of the gene. A male has XY sex chromosomes, X coming from his mother and Y from his father.

As Y is different from X and cannot dominate it, the male manifests Haemophilia if he gets the Haemophilia carrying X chromosome from his mother. Therefore Haemophilia is typically is seen in males. The complications of Haemophilia include swelling due to internal bleeding in the muscles, pain and numbness due to pressure of the bleed on nerves. The joints can get damaged and develop arthritis called hemarthroses.

This may need joint replacement if the arthritis becomes severe and leads to frozen joints. Infection is another complication that the hemophiliacs have to contend with, due to the blood component transfusions that they undergo especially Hepatitis and HIV. This can be avoided if only genetically engineered recombinant factor concentrates are used. Availability of these concentrates at all places and exorbitant cost are the problems faced by the majority of the populace in India. Desmopressin hormone (DDAVP) injection or nasal spray is a cheaper alternative useful in ‘mild’ hemophiliacs .

Some of the preventive measures that hemophiliacs should follow are (i)Vaccination against Hepatitis A and B; (ii) avoiding drugs like aspirin and ibuprofen and using paracetamol as a safer alternative; (iii) avoid blood thinners like heparin and warfarin; (iv) practice good dental hygiene (v) avoid injuries; (vi) avoid intramuscular injections (vii) wear a medical bracelet indicating that the individual is a hemophiliac and (viii) let the individual’s friends, teachers and coaches know about his condition.

(The author is a senior consultant Hematologist – Oncologist of Apollo Hospital)

Over the past several decades, factor replacement therapy has reduced the morbidity and mortality of Haemophilia through reduction in the frequency of bleeding episodes and improvement in the quality of life. Compared with individuals with normal coagulation, however, deaths still occur at higher rates due to bleeding episodes. Regular intravenous infusions of factor two to three times each week, termed prophylactic therapy, are now the standard of care for children and increasingly for adults.

Current therapies are expensive, and with the frequent infusion schedule, adherence is difficult. In addition, convenient access to peripheral veins is often a problem, and many children require use of central venous access devices, with the concomitant risks of infection and thrombosis. Despite recent promising success in gene therapy for Haemophilia B, a cure for Haemophilia is not yet available. Thus, improved factor preparations and/or novel approaches are needed.

Various methods are in development to improve the treatment of hemophilia, including the use of bioengineered coagulation factors, which require less frequent injections These are exciting times for new approaches to the treatment of hemophilia. In 2014, antihemophilic factor (Recombinant), Fc fusion protein (rFVIII-Fc), and eftrenonacog alfa (rFIXFc) were approved for clinical use. These will be discussed in greater detail than the others still in development, but comparative clinical experience eventually will be necessary to determine the relative clinical advantages of the various new products.