Hemophilia is a serious condition that can limit the ability to avoid episodes of bleeding. Treatment includes regular infusions of proteins to replace what the body doesn’t produce naturally.
Hemophilia is a genetic bleeding disorder that prevents blood from properly clotting. Severe bleeding from minor injuries or surgery can occur. Low levels or the absence of some proteins, called clotting factors, are the
Biological females may be carriers of hemophilia and not affected with symptoms. They can pass the condition on to their children. Hemophilia usually affects boys more than it affects girls. It does run in families, although some families have no prior history of hemophilia when it first appears.
There are a few types of hemophilia, distinguished by their causes. They have similar symptoms but are triggered by unique mutations in different genes. Hemophilia is passed down through genes, but there’s no family history in about 1/3 of cases.
A lack or decrease of clotting factor VIII (FVIII) causes hemophilia A, also called classic hemophilia. This is the most common type of hemophilia, affecting between 30,000 and 33,000 people in the United States.
A lack or decrease of clotting factor IX (FIX) causes hemophilia B, also called Christmas disease. Hemophilia B is four times less common than hemophilia A, according to the National Hemophilia Foundation.
Reduced levels of clotting factor XI cause hemophilia C, also called factor XI deficiency. It’s a rare form of hemophilia involving bleeding following trauma or surgery, including dental procedures. People with hemophilia C may bruise easily or experience nosebleeds more often than others. Women may have heavier periods and bleed more after giving birth.
Hemophilia B Leyden
Hemophilia B Leyden is a condition that occurs when someone experiences FIX deficiency in earlier life and the deficiency gradually improves, meaning that they may not require treatment for bleeding episodes by midlife.
The treatment of hemophilia depends on the type.
Hemophilia A treatment
Factor replacement therapy
Concentrated FVIII product, also called clotting factor, is the primary treatment for hemophilia A. This comes in two types: plasma-derived and recombinant. Recombinant factor is a synthetic product developed from DNA in a lab. Plasma-derived factor gets the name because it comes from human plasma. About 75% of people treated receive recombinant factors, according to the National Hemophilia Foundation.
Infusion through a vein in the arm or a port in the chest is the most common delivery system for clotting factors. Typically, treatment happens on a regular schedule to prevent bleeding episodes.
Non-factor replacement therapies
Non-factor replacement therapies are another way of treating hemophilia A. One treatment is emicizumab, a protein synthesized in a laboratory that replaces an activity customarily carried out by the FVIII protein. Emicizumab injected just under the skin on a preventive basis can help prevent bleeding episodes.
Desmopressin acetate (DDAVP) is a synthetic version of an antidiuretic hormone that helps control bleeding. Useful for people with mild hemophilia, it stops nose, mouth, joint, and muscle bleeding or bleeding before and after surgery. DDAVP comes as an injectable and a nasal spray.
Aminocaproic acid keeps blood clots from breaking down. Sometimes, when taken in conjunction with clotting factor, it helps clots form and preserves them. Often suitable for dental procedures or to treat mouth or nose bleeds, aminocaproic acid comes as a tablet or liquid.
Hemophilia B treatment
Concentrated FIX clotting factor is the primary medication used to treat hemophilia B. About 75% of people with the condition take a recombinant, or synthetic, form of the product, which is developed in a lab. The other option is a plasma-derived version of the product, which comes from human plasma.
The clotting factor is infused intravenously into the arm or through a port placed in the chest. Typically, it’s given on a regular schedule to prevent bleeding.
Aminocaproic acid prevents blood clots from breaking down. It can be used with clotting factors to help clots form and preserve them. Available in tablet or liquid form, aminocaproic acid is often used before dental procedures or to treat mouth or nose bleeds.
Hemophilia C treatment
For hemophilia C, aminocaproic acid is particularly effective at stopping bleeding from mucous membranes, including bleeding of the mouth and menstruation. It prevents blood clots from dissolving or breaking down, and when used together with clotting factors, it can help clots form and prevent them from disappearing.
Excessive menstrual bleeding might also require hormonal contraceptives.
In November 2022, the
Common side effects of Hemgenix included liver enzyme elevation, headache, mild infusion-related reactions, and flu-like symptoms.
Hemgenix is the most expensive medication ever approved by the FDA, costing
Hemophilia results from a mutation to a gene that controls blood clotting. Gene therapy provides a working copy of the gene to the individual’s body to prompt the body to produce its own clotting factor.
Anti-tissue factor pathway inhibitor (TFPI) or anti-TFPI
This new treatment works by slowing the system that prevents the body from clotting. Anticoagulants like TFPI prevent clotting, so interrupting their work allows clotting to happen. Because anti-TFPI isn’t specific to a particular clotting factor protein, it can treat hemophilia A and B.
RNA interference (RNAi) therapy targeting antithrombin
RNAi therapy focuses on an anticoagulant known as antithrombin. It encourages the development of thrombin, a coagulant that helps blood clot. RNAi therapy can treat hemophilia A and B since it doesn’t rely on one clotting protein.
There’s not currently a cure for hemophilia. Although much research remains, the recently FDA-approved medication Hemgenix holds some promise, since it’s a single-dose medication. In small studies, Hemgenix was found to increase FIX clotting protein levels in people with hemophilia B. It also led to a decreased need for preventive FIX treatment and a
The newly FDA-approved treatment Hemgenix is the most expensive drug ever approved, costing
A 2021 study found that the
Private health insurance may or may not cover hemophilia treatment costs, depending on the plan’s guidelines. Medicare part B does cover clotting factor therapies, while part D covers prescription drugs.
Hemophilia requires specialized treatment in a unique setting. For this reason, comprehensive
- physical therapists
- social workers
- other specialists
Maintaining a routine of good practices at home can help prevent bleeding episodes. Some things to consider include the following:
- Avoid some pain medications that can cause bleeding. These include aspirin and ibuprofen.
- Exercise regularly to keep muscles working and strong. This can help stop bleeding when it starts.
- Brush your teeth twice daily to prevent bleeding gums.
- Work with physical or occupational therapists to alter activities, so you’re able to engage in them without getting hurt.
- Maintain a moderate weight. A moderate weight takes the pressure off joints and prevents joint bleeding.
Hemophilia is a bleeding disorder that’s usually passed down through families. It results from a gene change that lowers the levels of certain proteins called clotting factors. There are several types of hemophilia, including A, B, C, and B Leyden.
The FDA recently approved a medication, Hemgenix, to treat hemophilia B. It’s a single-dose treatment, so it may, with more research, be considered a cure. It delivers a copy of a working gene to the liver, which is then prompted to produce its own clotting factor. Hemgenix is the most expensive medication ever approved by the FDA.
Currently, the most common treatment for hemophilia is to have preventive infusions of clotting factor given several times per week. Over a lifetime, this is also an expensive treatment, so Hemgenix may be more cost-effective if it’s found to work over many years.