World Haemophilia Day 2018 - Raising Awareness for Better Diagnosis and treatment

Did you know that this year will be 28th year since the World Federation of Hemophilia (WFH) chose to spread awareness, diagnosis and access to millions worldwide who suffer but do not have access to treatment from Hemophilia? Most people may not know about Hemophilia and therefore it is important to first understand how serious a condition it is.

What Is Hemophilia?

Hemophilia is not a disease but a bleeding disorder in which the blood does not clot properly. Bleeding disorders may be due to defects in the blood vessels, the coagulation mechanism or the platelets. Therefore, persons with this condition bleed longer after an injury or surgery.

Normally, when a person is injured, a complex reaction starts in the body to enable healing. Within seconds, platelets clump together around the wound. These platelets along with blood proteins, calcium and other clotting factors react to enable a clot which prevents further bleeding. Gradually the clot strengthens and dissolves when the wound is healed within a few days/weeks.

How Common Is Hemophilia?

Hemophilia is used to refer to two specific conditions known as Hemophilia A and Hemophilia B. Both are inherited in an X linked recessive genetic common and therefore are common among males. Although rare, women could exhibit some symptoms, but normally they are carriers of the gene responsible for the condition. Interestingly, Hemophilia is referred to as the royal disease because Queen Victoria of England was a carrier. Hemophilia A occurs because there is not enough clotting factor 8 and Hemophilia B occurs because there is not enough clotting factor 9. While the former is more common (1 in 10,000 approx), the latter is rare (1 in 40,000 approx males at birth). A subgroup of those with hemophilia B has Leydon Phenotype, which is severe hemophilia in childhood that improves at puberty.

Besides Hemophilia A and B, a condition called Hemophilia C is caused by deficiency of clotting factor 11. This is much rarer compared to A and B and the symptoms are mild as well. Besides, it is not inherited and affects people of both sexes.

Signs And Symptoms:

Depending upon the type of genetic mutation, Hemophilia can vary in severity. The extent of bleeding depends on the severity of the affected clotting factor. In severe cases, bleeding begins at an early age and may occur spontaneously. In mild cases, bleeding may be excessive only due to an injury or trauma. Female carriers may either not show any bleeding tendencies or may bleed more often than non-carrier females.

In severe Hemophilia bleeding begins within the first 2 years after birth. Heavy bleeding after circumcision is often the first symptom. For those with moderate or mild levels, symptoms develop later. Bleeding may occur anywhere in the body. Common sites are joints, muscles, mouth, nose, urinary tract, and gastro-intestinal tract.

In most case, Hemophilia is caused because of a family history. But sometimes, it even occurs without that due to a spontaneous mutation in the affected gene. Normally it occurs when the affected gene is passed through female carriers. If there is no family history, a series of blood tests can identify if protein factor of blood clotting is defective. In fact, genetic testing to identify and characterize specific mutations responsible for hemophilia is also available in some specialized laboratories.

Treatment Options:

The following are some treatment options available:

• Replacement of Blood Clotting Factors: With the help of human donors, clotting factor concentrates can be purified. It can also be made in the lab without a donor blood. This is called replacement therapy

• Medicines:

  Those with mild cases of Hemophilia can be treated with the drug, Desmopressin which helps release of substances from the platelets that form the platelet plug

• Pain Relievers:

  This helps alleviate pain but care must be taken to administer only non-steroidal and anti-inflammatory drugs

In the 1980’s, blood borne infections such as HIV and Hepatitis A and B were some of the complications that arose when donor blood was used to treat Hemophilia. But today, thanks to improved screening procedures, manufacturing practices including virus-removing techniques these risks have been eliminated to a large extent.

Hemophilia Awareness:

Every year, 17 April is celebrated as World Hemophilia day in honor of World Federation of Hemophilia founder, Frank Schnabel’s birthday, to increase awareness for better diagnosis and treatment. Hemophilia is genetic and therefore cannot be prevented. However, prompt and adequate treatment can reduce the risks and severity that occurs due to damage of joints. Compared to earlier times, life expectancy has increased among people suffering from this condition. Studies are underway to use gene therapy to replace defective genes and holds promise for the future.

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