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Hemophilia is a rare disorder in which the blood doesn’t clot like it should. It primarily affects men.

There are currently an estimated 30,000 to 33,000 men with hemophilia in the United States, according to the CDC.

In people with hemophilia, a clotting factor is missing or only present in low amounts. Clotting factors are proteins necessary for the blood to clot properly. Without them, people may bleed much longer after an injury or accident.

Hemophilia is almost always a genetic disorder. Treatment includes regular replacement of the specific clotting factor that is reduced. There are also newer therapies being used that do not contain clotting factors.

Hemophilia is an inherited bleeding condition. In rare cases, hemophilia can be acquired. This means that the condition develops during your life. This happens when the body forms antibodies that attack the clotting factors in the blood.

Hemophilia complications can be serious, and treatment can be costly.

What are the causes?

Hemophilia is caused by a change in one of the genes that determines how the body produces clotting factor VIII or IX. These genes are located on the X chromosome.

Chromosomes come in pairs. Women have two X chromosomes, whereas men have one X chromosome and one Y chromosome. Only the X chromosome contains the genes related to clotting factors. That is why this condition is more common in men.

Types of hemophilia

The two main types of hemophilia are hemophilia A and hemophilia B. In hemophilia A, clotting factor VIII (8) is missing or decreased. Nearly 8 in every 10 people with hemophilia have type A. In hemophilia B, clotting factor IX (9) is missing or decreased.

Symptoms

• Bleeding in the joints, causing pain and swelling.
• Bleeding in the muscles, bruising easily or excessively.
• Bleeding in the mouth or gums, especially after losing a tooth or having dental work.
• Frequent nosebleeds, blood in the urine or stool.
• Bleeding in a baby’s scalp or brain after a difficult birth.
• Bleeding in the head, which can happen after an injury or blow to the head. This complication can be very serious and may even result in death.
  

Treatments for hemophilia

• Clotting factor treatment

This is the main treatment for hemophilia. It involves giving a slow intravenous injection of clotting factor concentrates that correct the absence or deficiency of the corresponding clotting factor.

Clotting factor concentrates may be prepared from human blood that goes through a manufacturing process to reduce the risk of disease transmission.

There are also clotting factor concentrates that are not derived from human blood. These are called recombinant clotting factors. They can be stored, mixed, and used at home according to the product instructions. These treatments can be used regularly to prevent bleeding. This is called preventive or prophylactic therapy. Another type of periodic treatment is used to treat active bleeding “as necessary.”

• Other treatments

Adjunctive therapies: Although the primary treatment for patients with hemophilia is clotting factor, there are other options called adjunctive therapies that can also be used.

These therapies include agents that increase production of endogenous factor VIII and antifibrinolytics, which are usually used to control bleeding problems in mucous membranes, such as bleeding in the mouth or gums, nosebleeds, and menstrual bleeding (in carriers).

Desmopressin acetate is a synthetic analogue of the natural hormone arginine vasopressin. This hormone releases von Willebrand factor (VWF) from where it is stored in endothelial cells. Since VWF binds to factor VIII, the level of factor VIII also increases after administration of desmopressin acetate.

Antifibrinolytic drugs, such as aminocaproic acid and tranexamic acid, delay the breakdown of blood clots (fibrinolysis) and help improve hemostasis (that is, the mechanisms that stop the bleeding process). They may be used for bleeding in the mouth after a dental procedure or loss of a tooth.

Genetic therapy: Researchers are trying to find ways to correct the defective genes that cause hemophilia. There is no genetic therapy approved for the treatment of hemophilia in the United States.

Treatment of swelling and pain at a specific site: Painkillers, steroids, and physical therapy can be used to reduce pain and swelling in the affected joint.

What is the best treatment?

The type of treatment depends on the patient and several factors, including the severity of the hemophilia, the activities the patient does, and the dental or medical procedures they will have.

You should consult a health care provider to review which treatment options are best for you.

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Sources:

Centers for Disease Control and Prevention (CDC): Hemophilia, Data & Statistics. Hemophilia

National Heart, Lung, and Blood Institute (NHLBI)

Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al Guidelines for the management of hemophilia