What Are the 3 Types of Hemophilia?

Reviewed on 1/22/2021

Hemophilia is a rare bleeding disorder in which the blood doesn't clot normally.
Hemophilia is a rare bleeding disorder in which the blood doesn't clot normally.

There are various types of hemophilia depending on which clotting factor is affected. The three main types of hemophilia are:

  1. Hemophilia A: It is also called classic hemophilia. It is due to the deficiency of clotting factor VIII (eight) in the blood. It is the commonest type of hemophilia. About half of the people with hemophilia A develop severe disease.
  2. Hemophilia B: It is also called Christmas disease named after Stephen Christmas who was the first person diagnosed with this disease. Hemophilia B is due to the deficiency of the clotting factor IX (nine) in the blood. It is four times less common than hemophilia A.
  3. Hemophilia C: It is also known as Rosenthal syndrome. Hemophilia C occurs due to the deficiency of clotting factor XI (eleven) in the blood. This factor XI is also called plasma thromboplastin antecedent or PTA. Hemophilia C generally manifests as a mild disease. It is rarer than hemophilia A and B.

What is hemophilia?

Hemophilia is a rare bleeding disorder in which the blood doesn't clot normally. It mainly affects males and is rare in females. Hemophilia is sometimes called “the royal disease.” Several royal families of England, Germany, Russia, and Spain in the 19th and 20th centuries had members afflicted with hemophilia. The reason could have been the consanguineous marriages in the royal families. Hemophilia is usually an inherited condition. People start to see symptoms in their middle age or old age. Sometimes, the condition becomes apparent in young women who recently gave birth or are in the later stages of pregnancy.

The inability of the blood to clot usually results in excessive blood loss after an injury or during surgery. There can also be spontaneous bleeding at various sites in the body. Bleeding at vital sites, such as in the brain, can lead to serious and potentially fatal complications. In this condition, there is a deficiency of certain proteins called clotting factors in the blood. These clotting factors are responsible for the normal blood clotting in response to an injury. They are designated by Roman numbers (for example, factor VIII and factor IX). The severity of this disease depends on the amount of clotting factors present in the blood. Thus, the lower the concentration of clotting factors, the severe will be the bleeding tendencies.

Treatment depends on the type and severity of hemophilia. The treatment aims to prevent bleeding episodes mainly inside the head and the joints. The use of gene therapy to replace the defective genes is currently under study. Blood transfusions may be required in case of significant blood loss.

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What are the signs and symptoms of hemophilia?

The symptoms of hemophilia may vary depending on the disease severity and cause. The symptoms generally include:

Bleeding into the joints leading to swollen and painful joints. Bleeding can occur spontaneously in severe cases or after a minor injury. It can affect any joint; the knees, elbows, and ankles are more commonly affected.

  • Bleeding from the mouth or gums after a dental procedure, which is difficult to stop. It may also occur after brushing.
  • Skin bruises may appear spontaneously or after minor injuries.
  • Hematoma formation (collection of blood in tissues) may occur in the muscles, soft tissues, and organs in the body. An intracranial hematoma (formed around the brain) may be life-threatening.
  • Excessive bleeding after minor surgical procedures, such as removal of a skin tag or circumcision (a surgery done to remove the hood of skin, called the foreskin, covering the head of the penis).
  • Prolonged bleeding after receiving injections or vaccine shots.
  • Blood in the urine.
  • Blood in stool.
  • Heavy menstrual bleeding.
  • Frequent and excessive nosebleeds.
  • A difficult delivery due to bleeding in the head of a newborn may be a sign of hemophilia in the baby.

Bleeding in and around the brain may manifest as:

These symptoms need urgent medical intervention.

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References
Stanford Health Care. Hemophilia Types. https://stanfordhealthcare.org/medical-conditions/cancer/hemophilia/hemophilia-types.html

Centers for Disease Control and Prevention. What is Hemophilia? https://www.cdc.gov/ncbddd/hemophilia/facts.html

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