Overview
Hemophilia is a rare genetic disorder in which a person's blood does not clot properly due to a deficiency in blood-clotting proteins (clotting factors). This results in prolonged bleeding, especially after an injury or trauma. Hemophilia can lead to internal bleeding, which can be life-threatening if not treated promptly. It is classified into two main types: hemophilia A, associated with a low level of clotting factor 8, and hemophilia B, associated with a low level of clotting factor 9. Treatment typically involves replacing the specific clotting factor that is reduced, and new therapies that don't contain clotting factors are also being used.
Understanding the disease
Symptoms
The symptoms of hemophilia can vary depending on the level of clotting factors present in an individual. If the clotting-factor level is mildly reduced, a person might bleed only after surgery or trauma. However, if the deficiency is severe, bleeding can occur easily for seemingly no reason. Symptoms of spontaneous bleeding include unexplained and excessive bleeding from cuts or injuries, many large or deep bruises, unusual bleeding after vaccinations, pain, swelling, or tightness in joints, blood in urine or stool, nosebleeds without a known cause, and prolonged headache, vomiting, lethargy, double vision, weakness, or convulsions. A simple bump on the head can cause bleeding into the brain, which can be a serious complication and manifest with painful, prolonged headache, repeated vomiting, sleepiness, double vision, sudden weakness or clumsiness, and convulsions.
Risk Factors
The risk factors for developing hemophilia include having family members with the disorder and being male. Males are more likely to have hemophilia due to inheriting the X chromosome with the faulty gene from their mother. Additionally, females who are carriers of the defective gene can have bleeding symptoms if their clotting factors are moderately decreased. However, acquired hemophilia can occur in individuals with no family history of the disorder, and it is associated with certain conditions like pregnancy, autoimmune conditions, cancer, multiple sclerosis, and drug reactions.
Development
Hemophilia can develop in two ways: congenital and acquired.
- Congenital hemophilia: This type of hemophilia is present at birth and is inherited from the parents. It occurs when there is a faulty gene on the X chromosome, which results in low levels of a specific clotting factor (either factor 8 or factor 9). The most common type is hemophilia A, which is associated with a low level of factor 8, while hemophilia B is associated with a low level of factor 9.
- Acquired hemophilia: This type of hemophilia develops later in life, with no family history of the disorder. Acquired hemophilia occurs when a person's immune system attacks the clotting factor 8 or 9 in the blood, leading to low levels of these factors. It can be associated with various conditions such as pregnancy, autoimmune conditions, cancer, multiple sclerosis, or drug reactions.
Assessment and Diagnosis
Triage
You should see a doctor if hemophilia is suspected, especially in cases of unexplained and excessive bleeding from cuts or injuries, many large or deep bruises, unusual bleeding after vaccinations, pain, swelling, or tightness in the joints, blood in the urine or stool, and nosebleeds without a known cause. Seek emergency care if there are signs or symptoms of bleeding into the brain, such as painful, prolonged headache, repeated vomiting, sleepiness or lethargy, double vision, sudden weakness or clumsiness, or convulsions or seizures.
Diagnosis
To diagnose hemophilia, clotting-factor tests are used to reveal a clotting-factor deficiency and determine the severity of the condition. In severe cases, diagnosis usually occurs within the first year of life, while mild forms might not be apparent until adulthood. For people with a family history of hemophilia, genetic testing might be used to identify carriers. During pregnancy, testing can also determine if the fetus is affected by hemophilia, although it poses some risks to the fetus. Consult with a doctor to discuss the benefits and risks of testing.
Management and Treatment
Complications
Complications of hemophilia can include deep internal bleeding, bleeding into the throat or neck, damage to joints, infection, and bleeding into the brain. Deep internal bleeding can cause limb swelling, numbness, or pain, and may be life-threatening. Bleeding into the throat or neck can affect breathing. Frequent internal bleeding can cause joint damage and arthritis. Infection is a risk if clotting factors come from human blood, but the risk is low due to donor screening techniques. Bleeding into the brain is a serious complication that can cause headache, vomiting, sleepiness, weakness, convulsions, and other symptoms.
Treatment
Treatment for hemophilia includes regular replacement of the specific clotting factor that is reduced. Newer therapies that don't contain clotting factors are also being used. The goal of treatment is to maintain a sufficient level of the clotting factor in the blood to prevent bleeding episodes. Replacement therapy is typically administered intravenously, and the frequency of treatments depends on the severity of the condition and the extent of bleeding.
Preparing for medical consultation
To prepare for an appointment for hemophilia, you should:
- Make a list of symptoms and when they began.
- Gather information about your medical history, including any bleeding disorders or family history of bleeding disorders.
- List all medications, vitamins, and supplements you are taking, along with their doses.
- Prepare a list of questions to ask your doctor.
- Consider discussing the possibility of genetic counseling with your doctor.
- Take steps to protect your child from injuries that could cause bleeding, such as using protective gear and ensuring a safe home environment.
- Seek support from counselors, social workers, or therapists knowledgeable about hemophilia to help cope with the condition.
- Inform caregivers, coaches, and teachers about your child's condition to ensure proper care and support. Remember to be open and honest with your doctor about any symptoms you or your child are experiencing, and ask any questions you may have about the condition and its management.