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 root cause of hemophilia.

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.

The Centers for Disease Control and Prevention (CDC) report that the exact number of people with hemophilia in the United States is unknown, but recent data suggests that as many as 33,000 males live with the disorder. Hemophilia A, one of the types, affects about 400 babies born in the United States yearly.

Hemophilia types

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.

Hemophilia A

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.

Hemophilia B

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.

Hemophilia C

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

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

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

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

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

Aminocaproic acid

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 Food and Drug Administration (FDA) approved a new, one-time, single-dose treatment for hemophilia B. Called Hemgenix (etranacogene dezaparvovec), the medication deposits a working gene for FIX clotting protein in the liver, where clotting protein originates.

Two small studies showed that people taking Hemgenix had increased levels of clotting protein and a 54% reduction in bleeding.

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 $3.5 million per dose.

Gene therapy

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 54% decrease in bleeding episodes.

The newly FDA-approved treatment Hemgenix is the most expensive drug ever approved, costing $3.5 million per single dose. However, the drug maker, CSL Behring, thinks that’s a fair price compared with the overall lifetime costs of treating hemophilia.

A 2021 study found that the cost for an adult’s lifetime treatment of moderately severe to severe hemophilia B averages $22,987,483 million for preventive FIX treatment and $20,971,826 for on-demand FIX treatment.

Research from 2022 noted that the average cost of treatment in the United States is about $150,000 to $300,000 per year. This doesn’t factor in indirect costs like decreased productivity or missing work or school due to bleeding or treatment.

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 hemophilia treatment centers (HTCs) exist to provide the best care. To coordinate care, people with hemophilia can meet with teams that include:

  • hematologists
  • nurses
  • physical therapists
  • social workers
  • orthopedists
  • dentists
  • other specialists

Maintaining a routine of good practices at home can help prevent bleeding episodes. Some things to consider include the following:

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.