– The X-linked hereditary bleeding lifelong disorder known as hemophilia (in which the blood does not clot properly) is characterised by factor VIII (hemophilia A) or factor IX (hemophilia B or Christmas disease) deficiency.
– By repeatedly triggering bleeding into muscles and joints, deficiency produces hemophilic arthropathy and contractures.
– 30% are the results of an accidental mutation.
– Congenital hemophilia is usually inherited, meaning a person is born with the disorder. Some people develop hemophilia with no family history of the disorder is called acquired hemophilia. Acquired hemophilia is a variety of the condition that occurs when a person’s immune system attacks clotting factor VIII or IX in the blood.
– Because males have only one X chromosome, hemophilia is a hereditary condition that runs in the X-linked recessive family. Females are typically carriers since they have an extra X chromosome, however heterozygous carriers frequently exhibit hemophilia symptoms. Of such girls, 10% are hemophilic, the remaining 90% are considered carriers.
– One in 5,000 people have hemophilia A, and one in 30,000 live male births have hemophilia B.
– Global statistics show that one in 100,000 people have hemophilia C (factor XI deficiency)
Hemophilia symptoms include: easy bruising; bleeding after small injuries; joint discomfort or swelling; soft tissue swelling; uncomfortable and swollen muscles; bleeding after surgery or a procedure; and nosebleeds.
Depending on your level of clotting factors, hemophilia can manifest itself in a variety of ways. You might only bleed after surgery or trauma if your amount of clotting factor is significantly lowered. If you have a significant deficiency, you can bleed easily and for no apparent cause.
Nijmegen modified Bethesda assay is used to confirm the presence of an inhibitor and measure the titer i.e. <5 BU- Low responding inhibitor > 5BU-High responding inhibitor
• Factor replacement therapy (for hemophilia A and B)
• Antifibrinolytics /Clot-preserving medications (for hemophilia A and B)
• Bispecific antibody therapy (hemophilia A only).Emicizumab (Hemlibra) is a newer drug that doesn’t include clotting factors. This drug can help prevent bleeding episodes in people with hemophilia A.
• Desmopressin (DDAVP) (hemophilia A only). This hormone may encourage the body to release more clotting factor in some mild hemophilia types. It can be sprayed into the nose or slowly injected into a vein.
• Adhesives based on fibrin can be applied directly to the wound sites to promote clotting and healing. Fibrin sealants are very useful for dental operations.
• Medical attention: Your joints may no longer exhibit the signs and symptoms of internal bleeding. For severe injuries, surgery may be necessary.
• Simple cuts first aid: Pressure and a bandage can usually halt the bleeding. To manage minor skin-deep bleeding, apply an ice pack. To treat minor mouth bleeding, use ice pops.
Keep your joints safe from excessive bleeding by:
• Regular exercise will protect your joints from excessive bleeding. Exercises like walking, biking, and swimming help strengthen muscles while protecting joints. Football, hockey, and wrestling are examples of contact sports that are unsafe for those with hemophilia.
• Steer clear of specific painkillers. Aspirin and ibuprofen (Advil, Motrin IB, other brands) are medications that can exacerbate bleeding. Use paracetamol (Tylenol, among others), a safer option, as a substitute for modest pain treatment.
• Refrain from taking blood thinners: Heparin, warfarin (Jantoven), clopidogrel (Plavix), prasugrel (Effient), ticagrelor (Brilinta), rivaroxaban (Xarelto), apixaban (Eliquis), edoxaban (Savaysa), and dabigatran (Pradaxa) are anti-clotting medications.
• Maintain good oral hygiene. The intention is to avoid gum and tooth disease, which can cause excessive bleeding.
• Get your vaccine shots: Hepatitis A and B vaccinations, as well as other recommended vaccinations, should be given to people with hemophilia at the prescribed ages. The risk of bleeding can be decreased by asking for the use of the smallest gauge needle and by having pressure or ice given for 3 to 5 minutes following the injection.
• Keep your youngster safe from wounds that could bleed. Injury from falls and other mishaps can be avoided with the use of knee, elbow, helmet, and safety belt pads. Keep sharp-cornered furniture away from your home.
Clinical Trials and Studies
The healthy F8 gene is transferred into the patient’s hepatocytes using an adeno-associated virus (AAV)-based vector in many active gene therapy clinical trials for the treatment of hemophilia A. As of now, these studies have provided solid evidence that gene therapy can effectively treat hemophilia over the long term (at least one year).
Few AAV (adeno-associated virus) vector gene therapy trials in hemophilia A/B patients.