Haemophilia

Overview

Haemophilia is a genetic disorder, wherein blood does not clot normally when a person is exposed to an injury. This results in excessive blood loss, leading to severe complications. So, it is imperative to visit a doctor at the earliest upon noticing certain symptoms. Prompt diagnosis and treatment help in easy management of this disorder, ensuring a close-to-normal life for the patient.

What is Haemophilia?

Haemophilia is an X-linked recessive disorder that occurs when people lack a normal amount of clotting factor in their blood. Clotting factors work with platelets and are responsible for blood clotting after an injury. Their absence results in the blood to clot less, leading to an increased risk of bleeding or bruising. Healthcare providers aim to replace these missing clotting factors by injecting various types of proteins into the blood. Although this step does not completely cure haemophilia, diseased people can live as long as healthy individuals due to this therapy.

Types of Haemophilia

Haemophilia can be classified into three different types, based on the deficiencies of various clotting factors. The types of haemophilia are as follows:

Haemophilia A: This happens to be the most common variant of haemophilia that occurs due to the deficiency in clotting factor 8 (factor VIII).

Haemophilia B: Haemophilia B develops upon the absence of enough clotting factor 9 (factor IX) in the blood.

Haemophilia C: It is a rare type of haemophilia that occurs due to factor 11 (factor XI) deficiency.

Furthermore, haemophilia can also be classified based on the levels of clotting factors in the blood. These are as follows:

• Mild: People with 5% to 30% of the normal amounts of clotting factors in their blood.
• Moderate: People with 1% to 5% of the normal amounts of clotting factors in their blood.
• Severe: People with less than 1% of the normal amounts of clotting factors in their blood.

Haemophilia can also be acquired or congenital.

Acquired Haemophilia: Here, the patient does not inherit the disorder, but develops it when the patient’s immune system attacks clotting factor 8 or 9 in the blood.

Congenital Haemophilia: In this type, the patient inherits this condition from their diseased or carrier parents during their birth.

Symptoms of Haemophilia

Most of the time, the symptoms of haemophilia differ based on the quantity of clotting factors in the blood. Some common signs that indicate the development of Haemophilia include unusual bleeding after vaccination, pain, tightness, swelling of joints, blood in urine or stool, numerous large and deep bruises, unexplained nosebleeds, uncontrollable bleeding after injuries or cuts, or after surgery. Many times, people with severe haemophilia experience bleeding in their brains, which can lead to double vision, severe headaches, and feeling very sleepy.

Causes of Haemophilia

The main cause of the development of haemophilia is a mutation in the gene that forms the clotting factors. For the Haemophilia A and B types, two-thirds of the mutations come from a parent. Primarily, A and B types of Haemophilia occur due to recessive mutation on the X chromosome. On the other hand, type C Haemophilia occurs due to affected areas in the genetic code.

The following table outlines the inheritance pattern of haemophilia based on gender assigned at birth.

Sex	Disease Status	Disease Risk
Female	not a carrier	1 in 4
Female	carrier	1 in 4
Male	without haemophilia A/B	1 in 4
Male	with haemophilia A/B	1 in 4

Usually, Haemophilia A and B are more common in males than females as they occur because of a recessive gene on the X chromosome. However, Haemophilia C is an autosomal inherited form of the disease, affecting males and females equally.

Diagnosis of Haemophilia

There are various haemophilia diagnosis and test procedures that healthcare providers prescribe to confirm its development. These tests include:

Prothrombin Time (PT) Test: The doctors prescribe this test to determine the time taken for the blood to clot.

Complete Blood Count (CBC): This diagnostic test helps doctors measure and study the blood cells.

Activated Partial Thromboplastin Time Test: It is another type of test that helps doctors determine the duration taken for clot formation.

Specific Clotting Factor Test(s): It helps in the determination of the level of clotting factors in the blood.

Genetic Tests During Pregnancy: If a woman with a family history of haemophilia conceives, she needs to take this test to determine the probability of passing this disease to her unborn child.

Treatment for Haemophilia

The treatment of haemophilia involves the replacement of the clotting factors in the blood. Some of the haemophilia management and treatment options include:

Physical Therapy

Doctors prescribe orthopaedic physical therapy in case haemophilia has affected the joints of the patient.

Concentrated FVIII or FIX Product

These infused medications, primarily known as clotting factors are used for treating haemophilia A and B. They can be synthetic or made from human plasma and are often prescribed as a part of a regular, ongoing treatment regimen known as prophylaxis.

Non-factor Replacement Therapies

This new approach to therapy involves the use of synthetic proteins that are a replica of the clotting factors. Some examples include desmopressin acetate, emicizumab, etc. which the doctors directly inject into the skin.

Aminocaproic Acid

These medicines help prevent blood clots from breaking down. So, doctors often prescribe them before various surgeries that usually involve immense blood loss.

Pain Management

Doctors often recommend pain medications if the patient is suffering from immense pain due to the development of haemophilia.

Advanced Therapies

With advancements in sciences, researchers have introduced the use of monoclonal antibodies and gene therapies to treat haemophilia.

Preventive Measures for Haemophilia

Since haemophilia is a genetic disorder, there are no ways of preventing the development of this condition. If a woman has haemophilia, it is highly recommended to undergo genetic testing. This will help doctors deduce the chances of preventing the development of haemophilia in the child if she conceives.

Myths and Facts Related to Haemophilia

Following are some myths and facts associated with haemophilia:

Myth 1: A Person with Haemophilia Will Bleed to Death Upon Getting a Cut
Fact: People suffering from this genetic disorder do not bleed harder or faster. Only, it takes longer for them to clot the blood. So, for superficial cuts, only a band-aid will be enough. However, it can become severe only when there is internal bleeding in organs, deep tissues, or joints.

Myth 2: Only Boys Suffer from Haemophilia
Fact: Even girls can inherit haemophilia if they are born to a father who is suffering from this condition and a mother who is a carrier of this disorder. Also, girls who are “silent carriers” sometimes suffer from bleeding disorders as well.

Myth 3: Family Members Can Have Different Severity Levels for Haemophilia
Fact: The same genetic defects are passed on from one family member to another. Hence, they have the same level of severity until there is no genetic mutation. It might appear to differ based on their activity levels and how prone they are to accidents.

Myth 4: People Suffering from Haemophilia Will Ultimately Have Bad Joints
Fact: Although often haemophilic people develop bad joints, with a proper lifestyle change, they can maintain their bone health. Also, they can take primary (preventative) prophylaxis, which can prevent prolonged bleeding, thus protecting bone health.