Hemophilia

Hemophilia is a rare genetic blood disorder that occurs when blood does not clot, causing bleeding to slow or stop. Hemophilia occurs when people do not have the normal amount of clotting factors. Clotting factors help blood clot. Healthcare providers treat hemophilia by replacing the missing clotting factors.

What is Hemophilia ?

Hemophilia is a rare condition in which your blood does not clot as it normally does because it does not contain enough clotting proteins (clotting factors). If you have hemophilia, you may bleed for longer after an injury than if your blood were clotting properly.

Types of Hemophilia:

There are several types of hemophilia. Hemophilia can be severe, moderate, or mild depending on the amount of clotting factor in your blood.

There are three common types of hemophilia:

• Hemophilia A: This is the most common type of hemophilia. It occurs when you don’t have enough clotting factor 8 (factor VIII). The CDC estimates that about 10 out of 100,000 people have hemophilia A.
• Hemophilia B: Hemophilia B occurs when you don’t have enough clotting factor 9 (factor IX). The CDC estimates that about 3 out of 100,000 people in the United States have hemophilia B.
• Hemophilia C: Hemophilia C is also known as factor 11 (factor XI) deficiency. This type of hemophilia is very rare, affecting 1 out of 100,000 people.

Type of Hemophilia	Clotting Factor Deficiency	Prevalence	Description
Hemophilia A	Factor VIII (8)	10 out of 100,000 people	Most common type of hemophilia, caused by a deficiency in clotting factor VIII.
Hemophilia B	Factor IX (9)	3 out of 100,000 people	Caused by a deficiency in clotting factor IX, also known as Christmas disease.
Hemophilia C	Factor XI (11)	1 out of 100,000 people	Rare form of hemophilia, caused by a deficiency in clotting factor XI.

Hemophilia in Womens:

Women can also have hemophilia, but it is much rarer. When a woman has hemophilia, both X chromosomes are affected or one is affected and the other is missing or does not work. In these women, bleeding symptoms may be similar to those in men with hemophilia. When a woman has one affected X chromosome, she is a “carrier” for hemophilia. Being a female carrier for hemophilia is not the same as having hemophilia, although female carriers can have symptoms of hemophilia. A female carrier can also pass the affected X chromosome on to her children.

Examples of bleeding tendencies or symptoms in women may include:

• Getting hurt easily
• Experiencing swelling and bruising that is more painful than expected after an injury, such as a fall from a bike, a car accident, a sports injury.
• Heavy and/or prolonged periods. This is called heavy menstrual bleeding or sometimes abnormal uterine bleeding or menorrhagia. Can cause low iron levels or anemia
• Prolonged bleeding or discharge after dental surgery or extractions, other surgeries and medical procedures, injuries, or accidents
• Heavy bleeding for a long time after giving birth (especially late or delayed postpartum hemorrhage)
• Women with very low levels of clotting factors may also have internal bleeding into joints, muscles, organs, and soft tissues.

Hemophilia in Children:

Children with hemophilia may bleed longer after an injury than children without hemophilia. Bleeding can occur internally, into joints or muscles. Bleeding can also occur externally from cuts or injuries.

Symptoms of hemophilia in children include:

• Easily bruising
• Bleeding after minor injuries
• Joint inflammation or pain
• Soft tissue inflammation
• Swollen and painful muscles
• Bleeding from surgery or procedures
• Nosebleeds

Symptoms of Hemophilia:

Signs and symptoms of hemophilia vary depending on the level of clotting factors. If the level of clotting factors is slightly low, you may bleed only after surgery or trauma. If the deficiency is severe, you may bleed easily for no apparent reason.

Signs and symptoms of spontaneous bleeding include:

• Excessive, unexplained bleeding from cuts or wounds, or after surgery or dental work
• Many large or deep bruises
• Unusual bleeding after vaccinations
• Joint pain, swelling, or stiffness
• Blood in the urine or stool
• Nosebleeds with no known cause
• In babies, unexplained irritability

Bleeding in the brain:

A simple blow to the head can cause a brain hemorrhage in some people with severe hemophilia. This happens rarely, but is one of the most serious complications that can occur. Signs and symptoms include:

• Prolonged, painful headache
• Repeated vomiting
• Drowsiness or lethargy
• Double vision
• Sudden weakness or clumsiness
• Seizures

Causes of Hemophilia:

Hemophilia is usually inherited, which means that genetics play a large role in the development of hemophilia. But in some cases, hemophilia is acquired.

In most cases, a mutation in the genes responsible for producing clotting factors causes hemophilia. The genes for factors VIII and IX are found only on the X chromosome, while the gene for factor XI is located on chromosome 4.

Some patients develop acquired hemophilia. This occurs when the patient’s immune system attacks clotting factors VIII. Acquired hemophilia may be associated with:

• Pregnancy
• Autoimmune diseases such as lupus
• Cancer
• Multiple sclerosis
• Drug interactions

Diagnosis of Hemophilia:

A doctor will start by taking a complete medical history and physical exam. If you have symptoms of hemophilia, your provider will ask about your family’s medical history. Providers may do the following tests:

• Complete blood count (CBC): Providers use this test to measure and study blood cells.
• Prothrombin time (PT) test: Providers use this test to see how quickly blood clots.
• Activated partial thromboplastin time (APTT) test: This is another blood test that measures when blood clots form.
• Specific clotting factor test(s): This blood test shows the levels of specific clotting factors (such as factor 8 and factor 9).

Risk Factors:

The biggest risk factor for hemophilia is having family members who also have the condition. Men are much more likely than women to have hemophilia.

Complications of Hemophilia:

Depending on the severity of the case, various complications of hemophilia can occur. Patients should be aware of:

• Development of inhibitors: Inhibitors are a type of antibody that can attack factor VIII and factor IX, neutralizing their effects.
• Joint problems: People with hemophilia sometimes suffer from joint damage due to repeated bleeding.
• Pseudotumors: A pseudotumor is a hematoma (a pool of blood) that usually develops in the muscles next to bones, mainly in the long bones or the pelvis. Pseudotumors can pose serious risks if not monitored by a healthcare professional.
• Fractures: Bones can break when joints are damaged due to repeated bleeding.
• Compartment syndrome: A rare but serious complication can occur when bleeding puts pressure on the arteries and nerves of a muscle, which can cause serious injuries to the extremities.

The severity of the disease has a great influence on potential life expectancy. The life expectancy of haemophiliac patients is on average six years shorter; however, with the progress of the last 45 years, these estimates are approaching those of the general population.

Treatment of Hemophilia:

For mild or moderate inherited hemophilia, you may only need treatment in special situations, such as before surgery or childbirth. More severe inherited hemophilia usually requires ongoing treatment.

Medicines called factor replacements provide the missing clotting factor and help the blood clot. Nonfactor replacements work to prevent or stop bleeding.

Researchers are also working on ways to restore the genetic information needed to produce the missing clotting factor. The Food and Drug Administration has approved a gene therapy for hemophilia B, and additional clinical trials are underway for hemophilia A and B. Gene therapy may eliminate the need for frequent treatment.

For acquired hemophilia, doctors often prescribe a treatment that suppresses or slows down the immune system.

Hemophilia Prevention:

Because the condition is genetic, there’s no way to prevent hemophilia. However, patients can take steps to limit the frequency and severity of their bleeding. Aspirin and NSAIDs (ibuprofen and similar drugs) can worsen bleeding in patients with hemophilia.

However, patients can take steps to limit the frequency and severity of their bleeding.

• Use certain medications with caution: Aspirin and NSAIDs (ibuprofen and similar medications) can make bleeding worse in people with hemophilia. Medications designed to prevent blood clotting can also be problematic for people with hemophilia.16 Consulting a healthcare professional can help you make informed decisions.
• Keep your teeth clean: Brushing your teeth regularly can help prevent gum and dental disease, which can cause excessive bleeding.
• Exercise regularly: Regular physical activity strengthens muscles and protects joints. Activities such as swimming, walking, or cycling can help, while contact sports are not recommended.
• Wear protective gear: Before engaging in physical activity, it may be helpful to talk to a doctor or physical therapist about appropriate protective gear.
• Get vaccinated: It is recommended to follow vaccination schedules.

Living with Hemophilia:

Living with Hemophilia: Key Points

• Regular clotting factor replacement therapy helps prevent bleeding episodes.
• Engage in low-impact exercises (e.g., swimming) to maintain joint health and avoid injury.
• Avoid activities that may cause injuries or increase the risk of bleeding.
• Stay in regular contact with healthcare providers for ongoing care and monitoring.
• Use protective gear during physical activities to reduce the risk of injury.
• Manage pain with appropriate medications (avoid NSAIDs like ibuprofen that can increase bleeding risk).
• Be aware of bleeding signs (e.g., unexplained bruising, joint swelling) and seek treatment promptly.
• Support groups and counseling can provide emotional and social support.

References

• What Is Hemophilia? – Cleveland Clinic: – https://my.clevelandclinic.org/health/diseases/14083-hemophilia (Accessed in Sep 08, 2024)
• Hemophilia – Symptoms and causes – Mayo Clinic – https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327 (Accessed in Sep 08, 2024)
• Hemophilia – Symptoms and Causes | Penn Medicine – https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/hemophilia (Accessed in Sep 08, 2024)
• Hemophilia Overview: Types, Causes, Symptoms, and Treatment | Pfizer – https://www.pfizer.com/disease-and-conditions/hemophilia (Accessed in Sep 08, 2024)
• Hemophilia | Hemophilia | CDC – https://www.cdc.gov/hemophilia (Accessed in Sep 08, 2024)

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