Haemophilia is a rare genetic bleeding disorder that hampers the body’s natural ability to control blood clotting due to lack of blood-clotting proteins (clotting factors). If you are hemophilic, you may bleed for a longer time following an injury. Minor injury or cuts can cause extensive bleeding. If proper care is not taken at the proper time, then prolonged and recurrent bleeding in joints and muscles can be life-threatening. In order to understand this genetic disorder, it is important to get an overall insight into Haemophilia.
The condition of haemophilia affects one in every 5,000 males, but there are some rare instances when a female can also be affected by the disorder. Approximately 60% of people with haemophilia exhibit the severe form of the disorder, while 15% have a moderate form, and the others have mild haemophilia.
Haemophilia in India, Current Scenario
According to the World Federation of Haemophilia (WFH), India occupies a second position in the number of haemophilia patients in the world with nearly 2,00,000 haemophilia projected cases. “As per the survey conducted by the World Federation of Haemophilia (Annual Global Survey) of 2016, nearly 50% of the world’s Haemophilia population lives in India and over 70% (about 18,353 patients) of haemophilia people do not have enough knowledge or access to treatment.” Sadly this is due to undetected, undiagnosed and unregistered cases.
As per the latest report, only 15% of Indians suffering from Haemophilia-A have been identified while the rest remain undiagnosed due to lack of diagnostic facilities. To combat against this situation, Haemophilia Federation of India (HFI) is proposing ‘Haemophilia care centres’ to create an effective mechanism for diagnosis, treatment and bring compassionate care for haemophilic patients within their reach.
Types of Haemophilia
Haemophilia is categorized into several different types, according to the National Haemophilia Foundation. Each type is directly associated with a specific factor.
- Haemophilia A: This type is also known as Classic Haemophilia is caused due to lack of clotting factor VIII. Haemophilia A is inherited and is caused by a spontaneous genetic mutation. More than half of the people suffer from haemophilia A. People suffering from this type of haemophilia bleed longer than others, internally or externally after serious injury, trauma or surgery.
- Haemophilia B: Also known as Christmas disease, type is caused due to deficiency of clotting factor IX. This type is caused by a spontaneous genetic mutation in one-third of the cases.
- Haemophilia C: Caused due to defective clotting factor XI, the disease was first identified in patients who experienced severe bleeding after dental extractions.
How Do You Get Haemophilia?
Haemophilia, being an inherited X-linked disorder, people are born with this condition. It is usually passed through a parent’s genes to a child. But, the condition can also occur when there is no family history at all. A mutation in the gene responsible for producing clotting factors causes Haemophilia. The type of haemophilia depends on the gene which is disrupted or is mutated. Researchers are trying to find the exact cause of mutations.
The genes responsible for Haemophilia are located on the X chromosome. Males being heterogametic ‘XY’ only have one X chromosome that is inherited from their mother. If this X chromosome comprises the gene responsible for haemophilia, then, there is no ‘normal’ X chromosome to dominate it. On the other hand, females possess two X chromosomes ‘XX’, so there is usually be one normal X chromosome which protects her from having this condition.
Symptoms of Haemophilia
The severity of Haemophilia depends on the severity which is determined by the level of clotting factors in the blood. However, the symptoms are categorised as:
- Mild haemophilia: In this type, the affected patient may not show any symptoms, but the condition may become clear after a significant wound or surgery leading to prolonged bleeding. Mild haemophilia is witnessed in patients who have 5 to 50% of the normal amount of clotting factors.
- Moderate haemophilia: Patients with moderate haemophilia have 1 to 5% of the normal amount of clotting factors. The symptoms like irritation and mild pain in the ankle joints, knee joints and elbow joints are experienced by the affected patients. The site of the bleed can become swollen and tender.
- Severe haemophilia: Affected patients with less than 1% of the normal amount of clotting factors are included in this form of haemophilia. The condition can develop soft tissue bleeding leading to further complications, serious internal bleeding, and joint deformities.
Apart from these, some common symptoms of Haemophilia include:
- Spontaneous nosebleeds
- Externally or internal bleeding
- Prolonged or continued bleeding after previous bleeding.
- Excessive internal bleeding in the urine or stools, and large, deep bruises.
- Internal bleeding in the brain is also reported in patients after a bump on the head.
- Deeper injuries may lead to bleeding episodes which can cause permanent disability.
Diagnosis of Haemophilia
Haemophilia is diagnosed by evaluating the severity and levels of clotting factors present in the blood.
- Blood tests: A test called ‘partial Thromboplastin Time’ is used to diagnose Haemophilia. The test measures the amount of time the blood takes to clot. Patients with a longer-than-usual clotting time may not have adequate clotting factors.
- Measuring clotting factors VIII and IX: For Haemophilia A, the diagnosis is confirmed by evaluating the level of factor VIII clotting factor, while Haemophilia B is diagnosed by determining the presence of factor IX clotting factor in the blood samples.
- Prenatal tests: Pregnant mothers should be screened for Haemophilia during prenatal diagnosis between 9 to 11 weeks by chorionic villus sampling (CVS) or by fetal blood sampling at a later stage (18 or more weeks).
Haemophilia treatment involves prophylaxis, managing the bleeding episodes and clotting factors by use factor replacement blood clotting therapy and other medications.
A very best way of treating haemophilia is to substitute/replace the missing blood clotting factor so as to prevent blood loss and enhance clotting properly. For this, clotting factor concentrates are injected into a person’s vein. Clotting factor concentrates are products made from human plasma proteins and are also genetically engineered using DNA technology. The clotting factors can also be administered routinely at home to help prevent bleeding episodes. However, due to lack of awareness and non-availability of high-cost factor replacement factor, treatment of Haemophilia is a problem in India.
Other Treatment Products
These include the administration of certain medications to prevent blood loss.
- Hemlibra® (Emicizumab): Administered under the skin, Hemlibra® replaces the function of factor VIII, rather than replacing the missing clotting factor VIII directly. It can be used to either prevent or reduce the frequency of bleeding episodes in people with Haemophilia A.
- DDAVP® (Desmopressin Acetate): Desmopressin Acetate stimulates the body to release clotting factor in the body. The released factor VIII is then stored in the body tissues. The medication can be administered slowly into a vein intravenously or via a nasal spray to prevent haemophilia.
- Amicar® (Epsilon Amino Caproic Acid): Another medication used for treating Haemophilia is Amicar®. Administered through a vein or by mouth (as a pill or a liquid), this medication prevents blood clots from breaking down and ultimately results in the formation of a firmer clot and promote healing.
- First aid: Minor cuts in haemophilia can be effectively managed by using a bandage during bleeding. Ice packs can be used to slow down minor bleeding to manage to bleed under the skin.
Although haemophilia cannot be cured, following a proper treatment and self-care haemophilia patients can also maintain an active, productive lifestyle. Apart from this, a regular exercise, practising good dental hygiene can also reduce the risk of extensive bleeding.
Read More about: Excessive bleeding: It might be Haemophilia