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What Is Haemophilia? Its Causes, Symptoms, Complications, Diagnosis & Treatment
Every year, 17 April is observed as World Haemophilia Day. An international awareness day for haemophilia and other bleeding disorders, World Hemophilia Day is held on the date of the birthday of Frank Schnabel, founder of the World Federation of Hemophilia. The day was initiated in 1989 and focuses on raising awareness of inherited bleeding disorders and the need to make access to adequate care possible, globally.
The theme of World Hemophilia Day 2022 is "Access for All: Partnership. Policy. Progress. Engaging your government, integrating inherited bleeding disorders into national policy". [1].
What Is Haemophilia?
A rare disorder, haemophilia is an inherited condition in which your blood does not clot normally due to the lack of sufficient blood-clotting proteins or clotting factors [2]. An individual with haemophilia will have excessive bleeding, as the blood doesn't clot properly.
If an individual with haemophilia gets injured, they can bleed for a longer time. While small cuts do not pose any risk, deep bleeding inside your body, especially in your knees, ankles and elbows, and can damage your organs and tissues [3].
According to the World Federation of Hemophilia, about one in 10,000 people are born with this genetic disorder and men are increasingly prone to develop this condition, Dr Arya adds.
People with this condition can experience spontaneous or internal bleeding and often have painful, swollen joints due to bleeding into the joints, which in some cases can have life-threatening complications [4]. In some individuals, haemophilia can develop after birth and is called acquired haemophilia.
Types Of Haemophilia
Haemophilia is of three types or forms, haemophilia A, B, and C.
Haemophilia A: The most common type of haemophilia, this type is caused by a deficiency in factor VIII. So, there are 13 types of clotting factors which aids the platelets to help the blood clot [5]. Eight out of 10 people with haemophilia have haemophilia A [6].
Haemophilia B: Also called Christmas disease, this type is caused by a deficiency of factor IX [7].
Haemophilia C: A mild form of the disease, haemophilia C is caused by a deficiency of factor XI. This is the rarest form of haemophilia and people with this condition does not experience spontaneous bleeding [8].
Causes Of Haemophilia
Haemophilia occurs when you have a deficiency in clotting factors. That is, as aforementioned when you bleed, your body pools blood cells together to form a clot to stop the bleeding which is encouraged by these blood particles [9].
Most forms of haemophilia are inherited, however, 30 per cent of people with haemophilia have no family history of the disorder. One of the other causes of the condition is when a person's immune system attacks clotting factors in the blood - acquired haemophilia [10].
Acquired haemophilia can develop due to pregnancy, cancer, autoimmune conditions and multiple scoliosis [11].
Symptoms Of Haemophilia
The signs of haemophilia vary depending on the individual's level of clotting factors [12]. If the clotting-factor level is mildly reduced, one may bleed only after surgery or trauma. If the deficiency is severe, one may experience spontaneous bleeding.
Symptoms of haemophilia are as follows [13]:
- Unusual bleeding after vaccinations
- Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
- Large or deep bruises
- Blood in urine or stool
- Pain, swelling or tightness in joints
- Nosebleeds without a known cause
- In infants, unexplained irritability
Complications Of Haemophilia
Complications of haemophilia are as follows [14]:
- Deep internal bleeding
- Damage to joints
- Severe infections
- Reaction to clotting factor treatment
Diagnosis Of Haemophilia
For people with a family history of haemophilia, check-up during pregnancy can determine if the fetus is affected by haemophilia. But, this may pose some risks to the foetus [15]. In children and adults, a blood test can reveal if a clotting-factor deficiency is present in the system. And, depending on the severity of the deficiency, haemophilia symptoms can arise at various ages.
Severe cases are diagnosed within the first year of life and mild cases may not be apparent until adulthood; while some people first learn about it after they bleed excessively during a surgical procedure [16].
Treatment For Haemophilia
The main treatment for severe haemophilia involves receiving replacement of the specific clotting factor, which will be received through a tube placed in a vein [17]. This replacement therapy can be administered on a regular schedule at home also to help prevent bleeding episodes.
Other therapies for treating haemophilia include desmopressin (help release more clotting factor), fibrin sealants (promotes clotting and healing), clot-preserving medications, vaccinations and physical therapy to ease the signs and symptoms if the internal bleeding has damaged the joints [18].
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