What is Haemophilia
The word "haemophilia" comes from the Greek words haima (meaning blood) and philia (meaning affection or love). Despite this etymology, haemophilia is far from a benign condition.
Haemophilia is a hereditary bleeding disorder in which blood does not clot normally. People with haemophilia lack sufficient amounts of certain blood proteins called clotting factors, which are essential for normal blood clotting.
Understanding the Reality
There is a common misconception that people with haemophilia bleed more heavily from cuts and injuries than other people. While this can be true for severe external wounds, the real danger of haemophilia lies in internal bleeding, particularly bleeding into joints and muscles.
The greatest risk for people with haemophilia is not external bleeding from cuts, but internal haemorrhaging that can occur spontaneously or from minor trauma. This internal bleeding can cause serious damage to joints, muscles, and organs if not treated promptly.
Haemophilia A Names
Haemophilia A is the most common type of haemophilia and is known by several names:
- Classical Haemophilia - The traditional name, reflecting that this is the most common and historically recognized form
- Factor VIII Deficiency - The medical name, describing the specific clotting factor that is missing or deficient
In haemophilia A, people have low levels of Factor VIII (eight), one of the proteins that helps blood to form clots. Without enough Factor VIII, the blood cannot clot properly to control bleeding.
Haemophilia B Names
Haemophilia B is also known by several names:
- Christmas Disease - Named after Steven Christmas, the first person diagnosed with this specific type of haemophilia in 1952. Interestingly, he was diagnosed around the Christmas holiday season, making the name doubly appropriate.
- Factor IX Deficiency - The medical name, describing the specific clotting factor that is missing or deficient
In haemophilia B, people have low levels of Factor IX (nine), another essential clotting protein. While less common than haemophilia A, haemophilia B can be just as serious and requires similar treatment approaches.
How Common is Haemophilia
Haemophilia A
Haemophilia A is the most common form of the condition, affecting approximately 1 in 10,000 people. It accounts for about 80-85% of all haemophilia cases worldwide.
Haemophilia B
Haemophilia B is less common, affecting approximately 1 in 50,000 people. It accounts for about 15-20% of all haemophilia cases.
Gender Distribution
Haemophilia primarily affects males because the genes for both Factor VIII and Factor IX are located on the X chromosome. Since males have only one X chromosome, a single defective gene will cause the disease. Females have two X chromosomes, so they would need defective genes on both chromosomes to have haemophilia, which is extremely rare.
Female Carriers
Women who carry the haemophilia gene on one of their X chromosomes are called carriers. While carriers typically don't have haemophilia themselves, they can experience symptoms of a mild bleeding disorder, including:
- Heavy or prolonged menstrual periods
- Excessive bleeding after childbirth
- Easy bruising
- Prolonged bleeding after dental work or surgery
How Serious is Haemophilia
Haemophilia is a serious, lifelong condition that requires ongoing medical care and monitoring. The seriousness of haemophilia varies greatly depending on the severity of the factor deficiency.
When is Haemophilia Usually Diagnosed
Many cases of haemophilia, especially severe cases, are diagnosed in the first year of life. Signs that may lead to diagnosis include:
- Unusual bleeding after circumcision
- Large bruises when the baby begins to crawl or walk
- Swollen, painful joints when the child becomes more active
- Blood in the urine or stool
- Prolonged bleeding from minor cuts or injuries
Milder cases may not be diagnosed until later in childhood or even adulthood, often after an injury, dental procedure, or surgery that results in unusual bleeding.
Potential Complications
Without proper treatment, haemophilia can lead to serious complications:
- Joint damage - Repeated bleeding into joints can cause chronic pain, arthritis, and permanent joint damage
- Internal bleeding - Bleeding in the brain or other internal organs can be life-threatening
- Infection - People receiving clotting factor concentrates from blood products are at risk of bloodborne infections, though modern screening has greatly reduced this risk
- Inhibitors - Some people develop antibodies (inhibitors) against the clotting factor treatments, making them less effective
Severity Classification
Haemophilia is classified into three categories based on the amount of clotting factor in the blood. The severity determines how often bleeding occurs and how serious it can be.
| Classification | Factor Level |
|---|---|
| Severe | Less than 1% |
| Moderate | 1 to 5% |
| Mild | 5 to 30% |
Severe Haemophilia (Less than 1% Factor Level)
People with severe haemophilia have less than 1% of the normal amount of clotting factor in their blood. This is the most serious form of the condition.
Characteristics of severe haemophilia:
- Spontaneous bleeding episodes can occur without any obvious injury or trauma
- Bleeding into joints and muscles is common and can occur several times a month
- Bleeding can be difficult to stop without treatment
- Regular preventive treatment (prophylaxis) with clotting factor is usually necessary
- Any head injury is considered a medical emergency due to risk of brain bleeding
Moderate Haemophilia (1% to 5% Factor Level)
People with moderate haemophilia have between 1% and 5% of the normal amount of clotting factor.
Characteristics of moderate haemophilia:
- Bleeding episodes usually occur after minor injuries or trauma
- Spontaneous bleeding is less common but can still occur
- Bleeding after surgery or dental work is likely without preventive treatment
- May require prophylactic treatment depending on bleeding frequency
- Joint damage can still occur if bleeding episodes are not treated promptly
Mild Haemophilia (5% to 30% Factor Level)
People with mild haemophilia have between 5% and 30% of the normal amount of clotting factor. This is the least severe form.
Characteristics of mild haemophilia:
- Bleeding typically occurs only after significant injury, surgery, or dental work
- Spontaneous bleeding episodes are rare
- May not be diagnosed until a bleeding incident occurs in adulthood
- Treatment is usually only needed for injuries, surgery, or dental procedures
- With proper precautions and treatment when needed, people with mild haemophilia can lead relatively normal lives
Regardless of severity, all people with haemophilia should be under the care of a haemophilia treatment center and should carry medical identification indicating their condition in case of emergencies.
Living with Haemophilia
While haemophilia is a serious condition, advances in treatment have dramatically improved outcomes. With proper medical care, including:
- Regular clotting factor replacement therapy
- Prophylactic (preventive) treatment for severe cases
- Prompt treatment of bleeding episodes
- Regular check-ups at specialized treatment centers
- Physical therapy to maintain joint health
- Appropriate precautions during activities
Most people with haemophilia can expect to live full, active lives with a normal or near-normal life expectancy.