Hemophilia is a rare genetic disorder in which the blood does not clot normally due to a deficiency or absence of certain proteins, called clotting factors. The two most common types of hemophilia are hemophilia A, which is caused by a deficiency of clotting factor VIII, and hemophilia B, which is caused by a deficiency of clotting factor IX.

People with hemophilia are at increased risk for bleeding and may experience spontaneous bleeding or prolonged bleeding after injury or surgery. Symptoms can range from mild to severe, depending on the level of clotting factor in the blood.

Treatment for hemophilia typically involves the replacement of the missing clotting factor through intravenous infusion of clotting factor concentrates. This can help prevent or control bleeding episodes. Other treatments may include medications to promote clotting or physical therapy to help maintain joint flexibility and strength.

With appropriate treatment and management, people with hemophilia can lead normal, active lives. However, the condition can be life-threatening if bleeding is not promptly controlled, so it is important for people with hemophilia to receive regular medical care and to take steps to prevent injury and bleeding.

If you or a loved one has been diagnosed with hemophilia, it is important to work closely with a healthcare provider who specializes in the treatment of bleeding disorders to develop a personalized treatment plan.

When a person bleeds, the body typically pools blood cells together to form a clot to stop the bleeding. Clotting factors are proteins in the blood that work with cells known as platelets to form clots. Hemophilia occurs when a clotting factor is missing or levels of the clotting factor are low.

Congenital hemophilia

Hemophilia is usually inherited, meaning a person is born with the disorder (congenital). Congenital hemophilia is classified by the type of clotting factor that's low.

The most common type is hemophilia A, associated with a low level of factor 8 The next most common type is hemophilia B, associated with a low level of factor 9.

Acquired hemophilia

Some people develop hemophilia with no family history of the disorder. This is called acquired hemophilia.

Acquired hemophilia is a variety of the condition that occurs when a person's immune system attacks clotting factor 8 or 9 in the blood. It can be associated with:

• Pregnancy
• Autoimmune conditions
• Cancer
• Multiple sclerosis
• Drug reactions

Hemophilia inheritance

In the most common types of hemophilia, the faulty gene is located on the X chromosome. Everyone has two sex chromosomes, one from each parent. Females inherit an X chromosome from the mother and an X chromosome from the father. Males inherit an X chromosome from the mother and a Y chromosome from the father.

This means that hemophilia almost always occurs in boys and is passed from mother to son through one of the mother's genes. Most women with the defective gene are carriers who have no signs or symptoms of hemophilia. But some carriers can have bleeding symptoms if their clotting factors are moderately decreased.

The main treatment for severe hemophilia involves replacing the clotting factor you need through a tube in a vein.

This replacement therapy can be given to treat a bleeding episode in progress. It can also be given on a regular schedule at home to help prevent bleeding episodes. Some people receive continuous replacement therapy.

Replacement clotting factor can be made from donated blood. Similar products, called recombinant clotting factors, are made in a laboratory, not from human blood.

Other therapies include:

• Desmopressin. In some forms of mild hemophilia, this hormone can stimulate the body to release more clotting factor. It can be injected slowly into a vein or used as a nasal spray.
• Emicizumab (Hemlibra). This is a newer drug that doesn't include clotting factors. This drug can help prevent bleeding episodes in people with hemophilia A.
• Clot-preserving medications. Also known as anti-fibrinolytics, these medications help prevent clots from breaking down.
• Fibrin sealants. These can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful for dental work.
• Physical therapy. It can ease signs and symptoms if internal bleeding has damaged your joints. Severe damage might require surgery.
• First aid for minor cuts. Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.