Summary about Disease
Haemophilia is a rare, inherited bleeding disorder where the blood doesn't clot normally. This is due to a deficiency or absence of certain clotting factors, which are proteins needed for blood coagulation. The two main types are Haemophilia A (factor VIII deficiency) and Haemophilia B (factor IX deficiency). The severity of haemophilia varies depending on the amount of clotting factor present in the blood.
Symptoms
Symptoms vary depending on the severity of the condition. Common symptoms include:
Prolonged bleeding after injuries, surgery, or dental work
Large or deep bruises
Joint pain and swelling (haemarthrosis) due to internal bleeding
Blood in urine or stool
Nosebleeds that are difficult to stop
Bleeding into the brain (rare, but can be life-threatening)
Unexplained and excessive bleeding from cuts or injuries
In infants, unexplained irritability
Causes
Haemophilia is caused by a genetic mutation on the X chromosome. Because males have one X and one Y chromosome (XY), if they inherit an affected X chromosome, they will have haemophilia. Females have two X chromosomes (XX). If they inherit one affected X chromosome, they are usually carriers and may or may not exhibit symptoms. If they inherit two affected X chromosomes, they will have haemophilia, but this is very rare. Haemophilia A is caused by a deficiency of factor VIII, while haemophilia B is caused by a deficiency of factor IX. The mutation prevents the body from producing enough of these clotting factors.
Medicine Used
The primary treatment for haemophilia involves replacing the missing clotting factor. This can be done through:
Replacement therapy (Clotting factor concentrates): Concentrates of clotting factors VIII (for haemophilia A) or IX (for haemophilia B) are infused into the bloodstream. These concentrates can be derived from human plasma (plasma-derived) or produced using recombinant technology (recombinant).
Desmopressin (DDAVP): For mild haemophilia A, desmopressin can stimulate the release of factor VIII from the lining of blood vessels.
Emicizumab (Hemlibra): A bispecific antibody used for haemophilia A that mimics the function of factor VIII. Administered subcutaneously.
Gene therapy: A newer therapy, primarily for Haemophilia B, which aims to correct the genetic defect by introducing a functional gene.
Aminocaproic acid and tranexamic acid: Help prevent blood clots from breaking down.
Is Communicable
Haemophilia is NOT communicable. It is a genetic disorder, not an infectious disease, and cannot be spread from person to person through contact.
Precautions
Precautions for individuals with haemophilia include:
Avoiding activities that carry a high risk of injury.
Careful dental hygiene to prevent bleeding gums.
Informing healthcare providers about the haemophilia diagnosis before any medical or surgical procedures.
Wearing medical identification to alert emergency personnel.
Regular infusions of clotting factor concentrates, as prescribed by a doctor.
Avoiding medications that can thin the blood, such as aspirin and ibuprofen (NSAIDs).
Vaccination against hepatitis A and B (since blood products may have been used in the past, though modern clotting factors undergo viral inactivation processes)
How long does an outbreak last?
Haemophilia is not caused by an outbreak and the question does not apply.
How is it diagnosed?
Haemophilia is diagnosed through blood tests that measure the levels of clotting factors VIII and IX in the blood. Genetic testing can also be performed to identify the specific genetic mutation causing the condition. A family history of bleeding disorders is also considered. Clotting tests, such as prothrombin time (PT) and partial thromboplastin time (PTT), may also be performed.
Timeline of Symptoms
Symptoms can appear at any age, but often appear early in life.
Infancy: Excessive bruising, prolonged bleeding after circumcision, or bleeding into joints (haemarthrosis) after minor bumps.
Childhood: Frequent nosebleeds, prolonged bleeding after cuts or dental procedures, and joint pain due to internal bleeding.
Adulthood: Symptoms may persist from childhood or manifest later in life due to injuries or surgeries. Severe cases can lead to chronic joint damage and disability.
Important Considerations
Genetic Counseling: Important for families with a history of haemophilia to understand the risks of passing the gene to their children.
Comprehensive Care Centers: These centers provide specialized care for individuals with haemophilia, including access to hematologists, nurses, physical therapists, and social workers.
Prophylactic Treatment: Regular infusions of clotting factor concentrates to prevent bleeding episodes, especially in severe cases.
Pain Management: Chronic joint pain can be a significant issue for individuals with haemophilia, requiring appropriate pain management strategies.
Monitoring for Inhibitors: The body can sometimes develop antibodies (inhibitors) against the infused clotting factors, making treatment less effective. Regular monitoring is necessary to detect inhibitors.
Emergency Preparedness: Individuals with haemophilia should have a plan in place for managing bleeding emergencies.