Haemophilia C
Encyclopedia
Haemophilia C is a mild form of haemophilia
affecting both sexes. However, it predominantly occurs in Jews of Ashkenazi descent. It is the fourth most common coagulation
disorder after von Willebrand's disease and haemophilia
A
and B
. In the USA it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as haemophilia A.
It is caused by a deficiency of coagulation
factor XI
and is distinguished from haemophilia A and B by the fact it does not lead to bleeding into the joints. Furthermore, it has autosomal inheritance, since the gene for factor XI is located on chromosome 4 (close to the prekallikrein gene); and it is not completely recessive, individuals who are heterozygous also show increased bleeding. Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency. Treatment is usually not necessary, except in relation to operation
s, leading to many of those having the condition not being aware of it. In these cases, fresh frozen plasma
or recombinant factor XI may be used, but only if necessary. The afflicted may often suffer nosebleeds, and females can experience heavy menstrual bleeding. Haemophilia C was first discovered in a young Ashkenazic Jewish American in the 1950s.
Haemophilia
Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Haemophilia A is the most common form of the disorder, present in about 1 in 5,000–10,000 male births...
affecting both sexes. However, it predominantly occurs in Jews of Ashkenazi descent. It is the fourth most common coagulation
Coagulation
Coagulation is a complex process by which blood forms clots. It is an important part of hemostasis, the cessation of blood loss from a damaged vessel, wherein a damaged blood vessel wall is covered by a platelet and fibrin-containing clot to stop bleeding and begin repair of the damaged vessel...
disorder after von Willebrand's disease and haemophilia
Haemophilia
Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Haemophilia A is the most common form of the disorder, present in about 1 in 5,000–10,000 male births...
A
Haemophilia A
Haemophilia A is a deficiency in clotting factor VIII.Haemophilia A is inherited as an X-linked recessive trait, and thus occurs in males and in homozygous females. However, mild haemophilia A has been described in heterozygous females, presumably due to extremely unfavourable lyonization...
and B
Haemophilia B
Haemophilia B is a blood clotting disorder caused by a mutation of the Factor IX gene, leading to a deficiency of Factor IX. It is the second most common form of haemophilia, rarer than haemophilia A. It is sometimes called Christmas disease after Stephen Christmas, the first patient described...
. In the USA it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as haemophilia A.
It is caused by a deficiency of coagulation
Coagulation
Coagulation is a complex process by which blood forms clots. It is an important part of hemostasis, the cessation of blood loss from a damaged vessel, wherein a damaged blood vessel wall is covered by a platelet and fibrin-containing clot to stop bleeding and begin repair of the damaged vessel...
factor XI
Factor XI
Factor XI or plasma thromboplastin antecedent is the zymogen form of factor XIa, one of the enzymes of the coagulation cascade. Like many other coagulation factors, it is a serine protease. In humans, Factor XI is encoded by the F11 gene....
and is distinguished from haemophilia A and B by the fact it does not lead to bleeding into the joints. Furthermore, it has autosomal inheritance, since the gene for factor XI is located on chromosome 4 (close to the prekallikrein gene); and it is not completely recessive, individuals who are heterozygous also show increased bleeding. Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency. Treatment is usually not necessary, except in relation to operation
Surgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...
s, leading to many of those having the condition not being aware of it. In these cases, fresh frozen plasma
Fresh frozen plasma
The term fresh frozen plasma refers to the liquid portion of human blood that has been frozen and preserved after a blood donation and will be used for blood transfusion...
or recombinant factor XI may be used, but only if necessary. The afflicted may often suffer nosebleeds, and females can experience heavy menstrual bleeding. Haemophilia C was first discovered in a young Ashkenazic Jewish American in the 1950s.
Symptoms
The symptoms of Haemophilia C are the same as those for other forms of haemophilia, mainly:- Prolonged bleeding from injuries.
- Frequent or heavy nosebleeds.
- Traces of blood in the urine.
- Heavy menstrual bleeding in females.