World Haemophilia Day, aimed at raising awareness about rare genetic bleeding disorder - haemophilia is observed annually on April 17 by the World Federation of Hemophilia (WHF). Launched in 1989 it helps raise adequate funds for patients who cannot afford hemophilia treatment as well as attract volunteers for the World Federation of Hemophilia.
The theme of World Haemophilia Day 2021 is “Adapting to change: sustaining care in a new world”. Our community is made up of a great diversity of people; right from patients and their families, to doctors, physicians, researchers and care-givers, —each of whom has been affected by the ongoing COVID-19 pandemic in a different way. But we still need to continue providing support to the people affected with haemophilia now and even in the future after the pandemic has passed as a community with a shared vision of “Treatment For All”.
Well, on the 29th World Hemophilia Day, lets know more about this genetic condition.
Haemophilia is a bleeding disorder that chiefly arises when there is excessive bleeding both in and outside the body and the blood does not clot naturally due to the absence of sufficient blood-clotting proteins or clotting factors. Well, a healthy human body comprises of 13 types of clotting factors, which actively work with platelets to help the blood clot. Haemophilia is usually diagnosed in people with lower amounts of either Factor VIII or Factor IX in the blood.
While minor cuts or scrapes may not matter much, but if there is a high deficiency of the clotting factors, it can often cause severe internal bleeding including organs and tissues and especially in the knees, ankles and elbows leading to life-threatening conditions.
There are four main forms of hemophilia which include:
- Haemophilia A
- Haemophilia B
- Haemophilia C
- Acquired Haemophilia
In the human body, the process of blood clotting commonly involves a series of complex mechanisms involving 13 different proteins, classically termed as coagulation factors I through XIII and written with Roman numerals. In the case when the lining of the skin or the blood vessels are ruptured or damaged, these platelets are called in to the injured area to clump the blood together by forming an initial plug via the process of “the coagulation cascade”. After the initial work, the blood clotting factors are then pooled in together to form a permanent plug at the site of the wound. But in case of haemophilia, the clotting doesn’t happen naturally due to certain changes or mutations in the genes that code for proteins that are essential in the blood clotting process.
The common causative factors that increase the risk of haemophilia include:
Gender: Haemophilia A and B are more common in men than in females.
Heredity: People who have family members or parents with this inherited disorder are more prone to have it themselves.
The common signs and symptoms usually depend on the severity of your factor deficiency. If your clotting-factor level is moderately reduced, one may experience bleeding only after a surgery or trauma. But if your deficiency is severe, you may experience spontaneous bleeding without any reason.
The characteristic signs and symptoms include:
- Large, unexplained, deep bruises
- Severe and continuous bleeding
- Bleeding in the gums
- Frequent nosebleeds
- Pain and swelling in the joints
- Tightness in the joints
- Blood in the urine and stool
- Irritability (in children)
- Unusual bleeding even after vaccinations
A minor bump or injury in the head can lead to severe symptoms in case of people with chronic haemophilia. These include:
- Convulsions or seizures
- Painful, prolonged headache
- Repeated vomiting
- Double vision
- Sudden weakness or clumsiness
- Sleepiness or lethargy
Diagnosis And Treatment
On experiencing the above-mentioned signs and symptoms, do visit a doctor at the earliest to avoid severe complications. The doctor usually does a thorough physical checkup, acknowledges the patient’s family medical history to learn about the inheritance and conducts a blood test to check the clotting factor deficiency.
Although there is no permanent cure for this rare genetic disorder, doctors usually come up with treatment options to manage the symptoms and it usually depends upon the type and severity of haemophilia.
Haemophilia is chiefly treated with replacement therapy which involves giving or replacing the clotting factors that the individual is deficient in or missing completely via injection or intravenously. These replacement clotting factors can either be directly derived from humans or synthetically produced in a laboratory and are known as recombinant clotting factors.
In people suffering from severe haemophilic condition, there might be requirement of regular replacement therapy in order to prevent bleeding. This process is called prophylactic therapy.
Other therapies used to manage haemophilia include:
- Hormone therapy (a hormone is used to stimulate blood to make more clotting factors)
- Clot-preserving medications (medication are prescribed to prevent the clot from breaking down)
- Fibrin sealants (medications are applied directly to the wound site to promote clotting and healing)
- First aid for minor cuts (using pressure, bandage or ice pack to gradually slow down minor bleeding)
- Vaccinations (to receive immunization against hepatitis A and B)
- Demand therapy (a treatment which is started only after bleeding begins and remains uncontrollable)
- Physical therapy (to ease signs and symptoms if internal bleeding has damaged your joints)