Hemophilia is a disorder in which the blood does not clot as it should. It can result in spontaneous bruising and bleeding, especially after undergoing surgery or an injury. People with the condition may experience nosebleeds, frequent bruising, and blood in feces or urine. The CDC suggests that platelets and proteins called clotting factors work together to stop bleeding, and when dealing with hemophilia, the blood has low levels of these factors.
Types
Hemophilia is an inherited or genetic disorder. Here is how the disorder may be inherited.
Hemophilia A and B: The X chromosomes are responsible for causing types A and B. So, a child always inherits an X chromosome from the mother, and the second set, which is inherited from the father, could be X or Y. If the baby has two X chromosomes, they are assigned female at birth, and if the child has one X and one Y chromosome, they are assigned male at birth. So, if the baby boy inherits the faulty gene from the mother, he will get the disorder. Fathers can’t pass hemophilia to their sons. Similarly, if the female child acquires the gene defect from the mother, they will inherit a healthy X chromosome from their fathers. So, they are unlikely to have hemophilia. But they can be a carrier for the disorder and can pass on the gene to their children. Hemophilia is rare in daughters. Approximately 30% of people with the disorder do not have any disease history in their family. Instead, it develops as a result of an unexpected gene modification.
Hemophilia C: A mutation to the F11 gene cause clotting factor 11 deficiency. It is typically inherited, but in some rare circumstances, spontaneous or new mutations may occur, causing the disorder.
Symptoms
The disorder can make one bleed for longer following an injury and cause internal bleeding. The symptoms may vary depending on the levels of clotting factors. If the protein is mildly deficient, one may bleed only after trauma or surgery. However, if the deficiency is severe, one may bleed for no apparent reason. Some spontaneous bleeding symptoms include:
- Excessive bleeding from injuries, cuts, after dental work, or surgery
- Unexplained bleeding
- Blood in stool or urine
- Nosebleeds without a known cause
- Many deep or large bruises
- Unusual bleeding post vaccinations
- Unexplained irritability in infants
- Swelling, pain, or tightness in the joints
Additionally, in people with severe hemophilia, a simple head bump causes bleeding into the brain. Although rare, this is one of the severe complications. Some common symptoms associated with bleeding in the brain are:
- Double vision
- Repeated vomiting
- Prolonged or painful headache
- Lethargy or sleepiness
- Seizures or convulsions
- Clumsiness or sudden weakness
Diagnosis
A healthcare professional will begin the checkup by asking about medical and family history, followed by a physical examination. If one is experiencing any of the known symptoms, the doctor may recommend the following tests for diagnosis:
Specific clotting factor tests: Blood tests to indicate the clotting factor levels, such as proteins 9 and 8
An activated partial thromboplastin time test: A blood test to check blood clot formation
Prothrombin time test: This helps healthcare professionals determine how fast the blood clots
Complete blood count: It helps them examine and count blood cells.
Treatment options
Once the diagnosis confirms hemophilia, the doctor may come up with a personalized treatment plan, depending on the type and severity of the condition. Regardless, the primary objective of treatment is to replace clotting factors, so the blood can clot and one can avoid bleeding. Here are some options the doctor may prescribe based on the hemophilia type one has:
Physical therapy: One may undergo physical rehabilitation to manage a severe case of hemophilia. Here, the disorder begins to affect the joints.
Non-factor replacement therapies: These are newer treatment options that use synthetic proteins to replenish the clotting factor. Here, the doctor inserts the prescription treatment into the skin.
Concentrated FIX or FVIII product: More frequently referred to as the clotting factor, these are treatments, either synthetic or made from human plasma, that help manage hemophilia B and A. The doctors usually prescribe them as a regular, ongoing treatment routine called prophylaxis.
Pain management: If the disorder causes pain, the doctor may suggest prescriptions to help alleviate the pain.
Other prescription options: Another option usually recommended to manage the bleeding disorder is a prescription that prevents blood clot breakdown. Doctors may also recommend this prescription treatment before undergoing dental or other procedures.
Scientists are continually looking for newer forms of therapy, such as monoclonal antibodies or gene therapy for hemophilia treatment. So, one should consult a healthcare professional to understand the suitable options to treat hemophilia.