Full Answer
What causes hemophilia?
The primary cause of all types of hemophilia is a mutation in the genes that control and regulate the development of clotting factors. Clotting factors help the blood form clots that seal up wounds.
What is the pathophysiology of hemophilia C?
The etiology and pathophysiology are similar to those of hemophilia A. Hemophilia C is an autosomal recessive deficiency of factor XI, also interrupting hemostasis. Acquired hemophilia is caused by autoantibodies directed at factor VIII.
What is the difference between hemophilia B and C?
Hemophilia B, which is also called Christmas disease, is caused by a deficiency of factor IX. Hemophilia C is a mild form of the disease that’s caused by a deficiency of factor XI. People with this rare type of hemophilia often don’t experience spontaneous bleeding.
Is hemophilia C hereditary or acquired?
Hemophilia C If you have hemophilia C, you have a deficiency of FXI. Hemophilia C is usually hereditary and affects both genders equally. In rare cases, it can be acquired due to another disease state, such as lupus.
What happens if you don't have clotting factor?
If you have a severe deficiency of the clotting factor protein, the greater health concern is deep bleeding inside your body, especially in your knees, ankles and elbows. That internal bleeding can damage your organs and tissues, and may be life-threatening. Hemophilia is a genetic disorder.
What happens when a clotting factor is missing?
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.
How does hemophilia happen in boys?
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 simply carriers and experience no signs or symptoms of hemophilia.
Why does hemophilia bleed?
If you have hemophilia, you might bleed for a longer time after an injury than you would if your blood clotted properly.
What is the most common type of hemophilia?
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.
Why are blood products safer for people with hemophilia?
Blood products became safer after the mid-1980s due to screening of donated blood for hepatitis and HIV. Adverse reaction to clotting factor treatment.
What are the symptoms of spontaneous bleeding?
Signs and symptoms of spontaneous bleeding include: Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work. Many large or deep bruises. Unusual bleeding after vaccinations. Pain, swelling or tightness in your joints. Blood in your urine or stool. Nosebleeds without a known cause.
What is the effect of hemophilia on blood clotting?
About 15-20 percent of people with hemophilia develop an antibody (called an inhibitor) that stops the clotting factors from being able to clot the blood and stop bleeding. Treatment of bleeding episodes becomes extremely difficult, and the cost of care for a person with an inhibitor can skyrocket because more clotting factor or a different type of clotting factor is needed. People with inhibitors often experience more joint disease and other problems from bleeding that result in a reduced quality of life.
How many copies of the X chromosome are there?
This means that males only have one copy of most of the genes on the X chromosome, whereas females have 2 copies. Thus, males can have a disease like hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene. Females can also have hemophilia, but this is much rarer. In such cases both X chromosomes are affected or one is affected and the other is missing or inactive. In these females, bleeding symptoms may be similar to males with hemophilia.
How is hemophilia determined?
The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems. In rare cases, a person can develop hemophilia later in life. The majority of cases involve middle-aged or elderly people, ...
What is hemophilia clotting?
Table of Contents. Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors that can help to stop bleeding. People with hemophilia have low levels ...
What tests are done to determine if a newborn has hemophilia?
To make a diagnosis, doctors would perform certain blood tests to show if the blood is clotting properly. If it does not, then they would do clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder.
What is an HTC?
Often the best choice for care is to visit a comprehensive Hemophilia Treatment Center (HTC). An HTC not only provides care to address all issues related to the disorder, but also provides health education that helps people with hemophilia stay healthy. Learn more about treatment.
How do you know if you have hemophilia?
Signs and Symptoms. Common signs of hemophilia include: Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles. Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma).
What is the cause of hemophilia C?
Cause. Haemophilia C 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.
How common is coagulation disorder?
In the United States, it is thought to affect 1 in 100,000 of the adult population , making it 10% as common as haemophilia A.
What is a cyklokapron?
Cyklokapron (Tranexamic acid) Fresh Frozen Plasma. In terms of haemophilia C medication tranexamic acid is often used for both treatment after an incident of bleeding and as a preventive measure to avoid excessive bleeding during oral surgery.
Is frozen plasma necessary for recombinant factor XI?
In these cases, fresh frozen plasma or recombinant factor XI may be used , but only if necessary.
Does hemophilia C bleed spontaneously?
Signs and symptoms. In terms of the signs/symptoms of haemophilia C, unlike individuals with Haemophilia A and B, people affected by it are not ones to bleed spontaneously. In these cases, haemorrhages tend to happen after a major surgery or injury.
What does it mean if you have hemophilia C?
If you have hemophilia C, you have a deficiency of FXI. Hemophilia C is usually hereditary and affects both genders equally. In rare cases, it can be acquired due to another disease state, such as lupus. After VWD, hemophilia A, and hemophilia B, it is the fourth most common bleeding disorder and is thought to affect 1 in 100,000 of the adult population. Unlike the other bleeding disorders, hemophilia C occurs more predominantly in one demographic: Jewish people of Ashkenazi (or Eastern European) descent, where it is estimated to affect 8% of the population. Joint and muscle bleeds are not common with hemophilia C. Hemophilia C symptoms can vary and might not be related to your FXI level, and bleeds may occur after surgery, dental procedures, or trauma, but bleeding tendencies are unpredictable and inconsistent.
What is the Hemophilia Federation of America?
Hemophilia Federation of America is a national nonprofit organization that assists, educates and advocates for the bleeding disorders community.
What is the role of FXIA in coagulation?
FXIa is located upstream in the intrinsic pathway of the coagulation cascade. It plays a major role in the amplification and the propagation of thrombin production. Inhibiting FXIa could disrupt the intrinsic coagulation pathway without affecting either the extrinsic or the common pathways. This approach could provide a reduction in thrombin sufficient to impede occlusive thrombosis, yet allow enough TG to support hemostasis. Therefore, FXIa inhibitors may have the potential to be a promising antithrombotic therapy with a wider therapeutic index.185,186 Genetic evidence supports this hypothesis. Humans lacking FXI (hemophilia C) have relatively mild bleeding tendencies compared with a deficiency in either FVIII (hemophilia A) or FIX (hemophilia B). Bleeding in individuals with hemophilia C is rarely spontaneous. In addition, clinical studies have shown individuals with a severe FXI deficiency have a lower risk for ischemic stroke and DVT.187 Similarly, individuals with elevated levels of FXI experience a higher incidence of acute myocardial infarction and DVT.188,189
What is the F11 gene?
Mutations in the F11 gene may lead to FXI deficiency, an inherited bleeding disorder also known as Hemophilia C. This form of hemophilia is clinically characterized by mucous membrane bleedings such as nose-bleeds and easy bruising, and usually only requires treatment prior to surgical interventions. In contrast to other bleeding disorders levels of FXI antigen in blood do not predict the bleeding tendency [26]. So far, 192 F11 gene mutations (related to 487 cases) are described in the “FXI Deficiency Mutation Database” (www.factorxi.org, February 2017). In a CRM + F11 variant the reactive S575 from the catalytic domain is exchanged by an L residue as a result of a c.1724C > T mutation that leads to a loss of enzymatic function [27]. Another CRM + FXI deficiency is caused by a mutation in exon 15 where a T1797A transition leads to a premature stop at amino acid position 581 preventing the formation of the C553–C581 disulfide bond next to the catalytic triad and resulting in a loss of catalytic activity [28].
How many types of haemophilia are there?
2 Types of haemophilia. According to the National Haemophilia Foundation, there are three main types of haemophilia, broadly divided into haemophilia A, B, and C. Haemophilia A is “X” linked recessive disorder that arises from the deficiency or shortage of clotting factor VIII (FVIII). Haemophilia A thus affects male.
What are the different types of bleeding disorders?
Women can be affected by several different bleeding disorders such as VWD; platelet defects; Hemophilia A, B or C; and other more rare clotting deficiencies , as well as disorders involving the fibrinolytic system ( Kadir and James, 2009 ).
How many people are born with hemophilia?
One in 7500 males and 1 in 25 million females are born with hemophilia. There are about 17,000 individuals in the United States with the disease. Hemophilia A is 7 times more common than hemophilia B, and 1 in 100,000 individuals are born with hemophilia C.
Why does hemophilia C show bleeding?
Haemophilia C is an autosomal retreating disorder that shows bleeding symptoms because of the deficiency of factor XI. The disease may be inherited if both the parents carry the imperfect gene. People have bleeding complications when one parent has the genetic defect that causes Factor XI Deficiency. [1, 2 ].
What is factor XI?
Rare Bleeding Disorders in Women. Factor XI deficiency is a very rare bleeding disorder, also called Hemophilia C, it affects approximately 1 in 100,000 people in the United States. Factor XI deficiency follows an autosomal dominant inheritance pattern, meaning that males and females are equally affected.
What is hemophilia C?
Hemophilia C is a mild form of the disease that’s caused by a deficiency of factor XI. People with this rare type of hemophilia often don’t experience spontaneous bleeding. Hemorrhaging typically occurs after trauma or surgery. Hemophilia is an inherited genetic condition.
How to treat hemophilia A?
Your doctor can treat hemophilia A with a prescription hormone. This hormone is called desmopressin, which they can give as an injection into your vein. This medication works by stimulating the factors responsible for the process of blood clotting.
Can hemophilia go away?
Though treatment can help improve and prevent symptoms, there is currently no cure for hemophilia. You will need regular treatment to ensure your blood clots normally.
What is a clotting factor?
Hemophilia is an inherited bleeding disorder in which a person lacks or has low levels of certain proteins called “clotting factors” and the blood doesn’t clot properly as a result. This leads to excessive bleeding. There are 13 types of clotting factors, and these work with platelets to help the blood clot. Platelets are small blood cells that ...
How many types of clotting factors are there?
There are 13 types of clotting factors, and these work with platelets to help the blood clot. Platelets are small blood cells that form in your bone marrow. According to the World Federation of Hemophilia (WFH), about one in 10,000 people are born with this disease.
Why do females get X chromosomes?
Females receive an X chromosome from each parent. Because the genetic defect that causes hemophilia is located on the X chromosome, fathers can’t pass the disease to their sons. This also means that if a male gets the X chromosome with the altered gene from his mother, he’ll have hemophilia.
What are the three forms of hemophilia?
The three forms of hemophilia are hemophilia A, B, and C. Hemophilia A is the most common type of hemophilia, and it’s caused by a deficiency in factor VIII. According to the National Heart, Lung, and Blood Institute (NHLBI) Hemophilia B, which is also called Christmas disease, is caused by a deficiency of factor IX.
Causes
Types
Signs and Symptoms
- 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.
Who Is Affected
Diagnosis
Treatment
Inhibitors
- There are several different types of hemophilia. The following two are the most common: 1. Hemophilia A (Classic Hemophilia) This type is caused by a lack or decrease of clotting factor VIII. 2. Hemophilia B (Christmas Disease) This type is caused by a lack or decrease of clotting factor IX.
Overview
- Common signs of hemophilia include: 1. Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles. 2. Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma). 3. Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a t…
Cause
- Hemophilia occurs in about 1 of every 5,000 male births. Based on recent study that used data collected on patients receiving care in federally funded hemophilia treatment centers during the period 2012-2018, about 20,000 as many as 33,000 males in the United States are living with the disorder. Hemophilia A is about four times as common as hemophilia B, and about half of those …
Signs and symptoms
- Many people who have or have had family members with hemophilia will ask that their baby boys get tested soon after birth. About one-third of babies who are diagnosed with hemophilia have a new mutation not present in other family members. In these cases, a doctor might check for hemophilia if a newborn is showing certain signs of hemophilia. To make a diagnosis, doctors w…
Diagnosis
- The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by infusing (administering through a vein) commercially prepared factor concentrates. People with hemophilia can learn how to perform these infusions themselves so that they can stop bleeding episodes and, by performing the infusions on a regular basis (call…
Treatment
- About 15-20 percent of people with hemophilia develop an antibody (called an inhibitor) that stops the clotting factors from being able to clot the blood and stop bleeding. Treatment of bleeding episodes becomes extremely difficult, and the cost of care for a person with an inhibitor can skyrocket because more clotting factor or a different type of clotting factor is needed. People wi…
See also
Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency. It predominantly occurs in Ashkenazi Jews. It is the fourth most common coagulation disorder after von Willebrand's disease and haemophilia A and B. In the United States, it is thought to affect 1 in 100,00…
Further reading
Haemophilia C 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 recessive inheritance, since the gene for factor XI is located on chromosome 4 (near the prekallikrein gene); and it is not completely recessive, individuals who are heterozygous also show increased bleeding.