Understanding Hemophilia Types of Hemophilia
Clotting factors are specialized proteins circulating in the blood. These factors work together in a chain reaction to form clots. If even one of these factors is missing or deficient, clotting may be impaired.
Hemophilia is perhaps the best-known factor deficiency. Specifically, a deficiency of factor VIII results in hemophilia A, a deficiency of factor IX leads to hemophilia B, and a deficiency of factor XI leads to hemophilia C. There are many other factor deficiencies, however, which are described below.
Factor I Deficiency1
This rare disorder, also known as fibrinogen deficiency, affects both platelets and clotting and is found in both males and females. The complete absence of factor I, or afibrinogenemia, usually is discovered in newborns, due to bleeding from the umbilical cord, urinary tract, or central nervous system.
A variation of this disorder is called dysfibrinogenemia, in which people have normal levels of fibrinogen but their fibrinogen does not function properly.
Symptoms of Factor I Deficiency
People with a low level of factor I, or hypofibrinogenemia, may experience mild, moderate, or severe bleeding throughout their lives.
Factor II Deficiency2
This disorder, also known as prothrombin deficiency, is extremely rare and affects both males and females equally. The estimated rate of occurrence is 1 in 2,000,000 people. Factor II deficiency has been reported worldwide.
Symptoms of Factor II Deficiency
The disorder may lead to excessive menstrual bleeding, severe bruising, postoperative hemorrhage, and muscle hematoma (a collection of pooled blood in the muscle).
Factor V Deficiency3
Factor V deficiency is also known as parahemophilia. First identified in Norway in 1944, this disorder has been reported in only about 1 in 1,000,000 people.
The Symptoms of Factor V Deficiency
Many people with this deficiency have no symptoms, while others experience occasional nose bleeds, bruising, and excessive menstrual bleeding. Bleeding following surgery may be the first indication of this condition.
Factor VII Deficiency4
This rare disorder, also known as proconvertin deficiency or Alexander’s disease, is often diagnosed at birth because of bleeding into the brain as a result of birth trauma.
The Symptoms of Factor VII Deficiency
Circumcision may cause heavy bleeding. Women may experience excessive menstrual bleeding. Children and adults may experience spontaneous bleeding from the nose, gums, or gastrointestinal tract. It’s important to pre-treat patients with this deficiency prior to surgery in order to prevent excessive bleeding and damage to the surgical site.
Factor VIII Deficiency5
Factor VIII deficiency, or hemophilia A, is the most common type of hemophilia. This rare disorder affects approximately 1 in 5,000 males born in the United States. In about 30% of cases, there is no family history of the disorder and the condition is the result of a spontaneous gene mutation.
The Symptoms of Factor VIII Deficiency
Hemophilia A can range from mild to moderate to severe and symptoms vary according to the severity of the disorder. In people with mild to moderate hemophilia, bleeding episodes tend to occur after injuries and some happen spontaneously without obvious cause. People with severe hemophilia may have bleeding following an injury or may have frequent spontaneous bleeding episodes, often into their joints and muscles.
Factor IX Deficiency6
Factor IX deficiency is also known as hemophilia B or the Christmas disease after the first person to be diagnosed with the disorder in 1952. As the second most common type of hemophilia, it occurs in about 1 in 25,000 male births and affects about 3,300 individuals in the United States.
The Symptoms of Factor IX Deficiency
Hemophilia B can also be mild, moderate, or severe. Bleeding episodes are similar to those seen with hemophilia A ranging from injury related to spontaneous muscle or joint bleeds in more severe cases.
Factor X Deficiency7
This bleeding disorder has been reported in 1 in 500,000 people.
The Symptoms of Factor X Deficiency
People with this disorder can have mild to severe symptoms, including nose bleeds, frequent bruising, excessive menstrual bleeding, and gastrointestinal bleeding. Bleeding within the skull may be severe.
Factor XI Deficiency8
This rare disorder is also known as hemophilia C. It is the second most common bleeding disorder affecting females (von Willebrand’s disease is the first). It occurs in approximately 1 in 100,000 people, although it is found more frequently among some ethnic groups (primarily those with Jewish ethnicity of eastern European descent).
The Symptoms of Factor XI Deficiency
Symptoms are usually milder than with hemophilia A or B and include bruising, nose bleeds, blood in the urine, and prolonged bleeding after childbirth. Spontaneous bleeding and joint bleeding are rare, but delayed bleeding (occurring long after the injury) is common.
Factor XII Deficiency9
First identified in 1955, this condition occurs in an estimated 1 in 1,000,000 people.
The Symptoms of Factor XII Deficiency
This disorder is unusual in that bleeding symptoms are rare. In fact, the opposite can sometimes occur. People with this disorder have a tendency to form an unwanted clot (called a thrombosis) in the bloodstream. These blood clots can block veins or arteries, leading to serious and even life-threatening outcomes.
Factor XIII Deficiency10
In this rare disorder, also known as fibrin stabilization factor deficiency, the affected person lacks the necessary factor for proper clot formation and wound healing. Without factor XIII, a clot forms normally, but within hours or days, the clot breaks down and bleeding starts again. This cycle can repeat for weeks or months, resulting in poor wound healing and unusual scar formation. This disorder is another rare inherited factor deficiency, occurring in an estimated 1 in 5,000,000 people.
The Symptoms of Factor XIII Deficiency
Bleeding from the umbilical stump after birth has been reported. Older patients experience severe bruising, prolonged bleeding after injury, and bleeding that is delayed for several hours or days after trauma. Bleeding into the brain, a life-threatening condition, can occur spontaneously without injury to the head.
References
- Factor I Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=184&contentid=44&rptname=bleeding. Accessed June 8, 2011.
- Factor II Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=185&contentid=48&rptname=bleeding. Accessed June 8, 2011.
- Factor V Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=186&contentid=409&rptname=bleeding. Accessed June 8, 2011.
- Factor VII Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=187&contentid=50&rptname=bleeding. Accessed June 8, 2011.
- Factor VIII Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=180&contentid=45&rptname=bleeding. Accessed January 21, 2013.
- Factor IX Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=181&contentid=46&rptname=bleeding. Accessed January 21, 2013.
- Factor X Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=188&contentid=52&rptname=bleeding. Accessed June 8, 2011.
- Factor XI Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=189&contentid=54&rptname=bleeding. Accessed June 8, 2011.
- Factor XII Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=205&contentid=56&rptname=bleeding. Accessed June 8, 2011.
- Factor XIII Deficiency. National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=190&contentid=58&rptname=bleeding. Accessed June 8, 2011.

