What Is The 'Christmas Disease'?

Have you ever got a minor cut, but the blood just won't stop? Or have you noticed that when someone else got hurt and bled, it stopped, but it takes a while for that to happen with you? It may be hemophilia. Though a rare genetic disorder, but it could happen when your blood does not clot and make your bleeding slow down or stop.

The Christmas Disease

There are three kinds of hemophilia and hemophilia B is one of three main types, alongside hemophilia A and hemophilia C. This condition arises from a deficiency or absence of factor IX, a protein critical for blood clotting. This is also known as the 'Christmas disease'.

Why Is It Named The 'Christmas Disease'?

When one sees such a name, it is no surprise that it is either named other someone who showed the characteristics, or someone who discovered it. Here too, the name 'Christmas disease' comes from Stephen Christmas, the first person diagnosed with the condition in 1952, as is mentioned in the National Organization for Rare Disease. When factor IX levels are low, bleeding can occur spontaneously or last longer than usual after an injury. The severity of symptoms depends on the level of factor IX in the blood.

It is also called the 'Royal Disease'

Hemophilia B is nicknamed the 'royal disease' because it affected several members of European royal families, including Queen Victoria's descendants. It is very well known for affecting Alexis Nikolaevich Romanov, the son of the last Tsar of Russia, also known as the Tsarevich of Russia. It came down to the Russian royal family via the German Hesser family. "Due to a mutation in Queen Victoria’s genes, royals across Europe found themselves with children plagued with hemophilia because of their incessant need to preserve royal blood and intermarry with other monarchs," mentions a 2022 study by Portland State University, titled Bad Blood: Hemophilia and It’s Detriment to the Russian Imperial Family.

Causes of Hemophilia B

The disorder is caused by a mutation in the gene responsible for producing factor IX. This gene is located on the X chromosome, making hemophilia B an X-linked recessive disorder.

How It’s Inherited:

Male children inherit one X and one Y chromosome. If a male inherits the mutated X chromosome from their mother, they will develop hemophilia B.

Female children inherit two X chromosomes. A female with one mutated gene becomes a carrier and may pass the gene to her children.

Male carriers do not pass the condition to their sons but always pass the mutated gene to their daughters.

Spontaneous Mutations:

In some cases, hemophilia B is not inherited but caused by spontaneous gene mutations during fetal development.

Symptoms of Hemophilia B

Symptoms can range from mild to severe and often present after abnormal bleeding events. Severe cases are usually identified in infants, while milder cases may not be diagnosed until later in life.

Common Symptoms Include:

• Prolonged bleeding after injuries, surgeries, or vaccinations.
• Excessive bruising and nosebleeds without clear causes.
• Blood in urine or stool due to internal bleeding in the gastrointestinal or urinary tract.
• Joint pain and swelling caused by internal bleeding.
• Unexplained bleeding in the skull after childbirth in severe cases.

Diagnosing Hemophilia B

Doctors use several tests to confirm the diagnosis of hemophilia B:

• Factor IX test: Determines the level of clotting factor in the blood.
• APTT and PT tests: Measure how quickly blood clots.
• Fibrinogen test: Assesses the ability to form a clot.
• Complete Blood Count (CBC): Evaluates blood components like red and white cells.
• For females with a family history of the condition, genetic testing can identify carriers with a high degree of accuracy.

Treatment for Hemophilia B

While there is no cure for hemophilia B, treatment options can effectively manage the condition and prevent complications.

Factor IX Injections:

Replacement therapy with factor IX, either derived from donated human blood or synthesized in a laboratory (recombinant factor IX), is the cornerstone of treatment. Recombinant factor IX is preferred for safety reasons.

Preventive Therapy:

Prophylactic blood transfusions may be required for severe cases to prevent prolonged bleeding.

Vaccination against hepatitis B is recommended for those receiving blood-derived therapies.

Addressing Complications:

People with severe hemophilia B may face risks such as brain bleeding or chronic joint damage. Regular checkups and avoiding medications like aspirin can reduce these risks.

Some individuals develop antibodies (inhibitors) that neutralize factor IX, making standard therapy ineffective. Alternative treatments may be necessary in such cases.

Living with Hemophilia B

With advancements in treatment, individuals with hemophilia B can live relatively normal lives. Managing the condition involves:

• Regular monitoring and treatment.
• Avoiding activities that may lead to excessive bleeding.
• Receiving clotting factor therapy before surgeries or after injuries.

How serious is hemophilia B?

Without proper management, hemophilia B can be life-threatening due to excessive bleeding from injuries or surgeries. Early diagnosis and treatment significantly improve outcomes.

Can hemophilia B be cured?

There is currently no cure, but ongoing treatments and emerging therapies continue to improve quality of life and life expectancy.

With appropriate care, people with hemophilia B can manage their symptoms and lead fulfilling lives. Consult your healthcare provider for personalized advice and support.