Introduction

Haemophilia is a rare condition in which the blood does not clot properly due to a deficiency in blood-clotting proteins (clotting factors). If you have haemophilia, you may bleed for longer periods following an accident than if your blood clots normally.

Minor cuts are usually not a big deal. If you have a severe case of the disease, the most significant concern is internal bleeding, particularly in your knees, ankles, and elbows. Internal bleeding can harm your organs and tissues, putting your life in danger.

Haemophilia is almost often a hereditary condition. The lowered clotting factor is replaced regularly as part of the treatment. Newer therapy without clotting factors is also being used.

Haemophilia C is a rare genetic condition caused by a deficiency or absence of factor XI, a blot-clotting protein (FXI). Patients who sustained excessive bleeding following dental extractions were the first to be diagnosed with the condition in 1953. It is still relatively unknown today.

This kind of haemophilia, commonly known as factor XI deficiency, affects about one person in every 100,000. However, because of intermarriage, it is as high as 8% among Ashkenazi Jews in Israel.

Table of Contents

• Overview of Haemophilia
• Haemophilia C
  • Factor XI Deficiency
  • Genetics and Inheritance
  • Signs and Symptoms
  • Cause and Diagnosis of Haemophilia C
  • Treatment of Haemophilia C
• Frequently Asked Questions (FAQs)

Overview of Haemophilia

Haemophilia is a bleeding ailment that is passed down the generations. The condition is characterised by an absence of or low quantity of specific proteins known as “clotting factors.”

Haemophilia comes in various forms, but they all have low clotting factor VIII or factor IX levels. Doctors use the number of factors in the blood to determine the severity of the illness.

As a result of Haemophilia, your blood doesn’t clot properly. Even minor cuts or injuries might result in significant bleeding. It can also result in:

• sudden bleeding
• internal bleeding
• inflamed joints due to bleeding inside of them

It is unknown how many people are affected by haemophilia. According to the Centers for Disease Control and Prevention (CDC), roughly 400 male infants are born with haemophilia A, a type of haemophilia, each year.

The following are the signs and symptoms of spontaneous bleeding:

• Unexplained and extreme bleeding from cuts or injuries, post surgery or dental treatment
• Numerous large or deep bruises
• Unexpected bleeding after vaccinations
• Pain, inflammation or tightness in joints
• Blood in urine or stool
• Nosebleeding from unknown causes
• Unprecedented irritation among children.

Types of Haemophilia

Haemophilia A, B, and C are the three types of haemophilia.

• Haemophilia A is the most frequent type of haemophilia. This type of haemophilia, commonly known as “classic haemophilia,” is a blood disorder caused by a lack of factor VIII.
• Haemophilia B is a blood disorder characterised by a lack of red blood cells. This kind of haemophilia, commonly known as Christmas disease, is caused by a lack of or severe deficiency in clotting factor IX.
• Haemophilia C is an inherited blood disorder that affects people of all ages. Haemophilia C, commonly known as “factor XI deficiency,” is a rare kind of haemophilia that was initially detected in persons with acute bleeding after tooth extractions in 1953.

Congenital (Inherited) Haemophilia

The majority of cases of haemophilia are congenital. Congenital is a trait you inherit from one or both of your parents when you are born. People with a family history of haemophilia account for almost two-thirds of all cases of type A and B haemophilia.

Acquired Haemophilia

Unlike congenital haemophilia, acquired haemophilia can develop without a personal or family history of the disease. Acquired haemophilia, on the other hand, is an unusual autoimmune condition.

We have an autoimmune condition or disease when our immune system destroys healthy cells. In acquired Haemophilia, the immune system produces antibodies that attack clotting factors, the most common of which is factor VIII (acquired haemophilia A).

Causes of Haemophilia

A mutation in the genes that control and regulate the generation of clotting factors is the fundamental cause of all kinds of Haemophilia. Clotting factors aid in the formation of clots that heal wounds.

About two-thirds of Haemophilia A and B mutations come from a parent. Even in those who have no family history of the disease, the remaining mutations can emerge spontaneously.

Haemophilia C

Haemophilia C (factor XI deficiency) was first discovered in two American Jewish sisters and a maternal uncle. After tooth extractions, all three of them bled, and the sisters bled after tonsillectomy as well.

Unlike haemophilia A or haemophilia B, where the bleeding tendency is clearly linked to factor level, some individuals with acute factor XI deficiency do not show a bleeding tendency. On the other hand, some patients with a moderate lack of factor XI bleed severely, making haemophilia C more difficult to control than haemophilia A or B due to this unpredictability, which is still unknown.

Factor XI Deficiency

A relatively rare blood coagulation condition is factor XI deficiency. It affects both men and women, though women are more severely impacted for gynaecological reasons.

Clotting factors are specialised proteins that are required for proper clotting, which is the process of blood solidifying like glue to plug a wound site and prevent bleeding. Factor XI is a protein that helps in the formation of clots. Individuals with factor XI deficiency may not bleed faster or more heavily than healthy people. Still, they may have trouble preventing blood flow from a deep or surgical incision because their blood clots inadequately.

The intensity of symptoms in factor XI deficiency varies from person to person and is not always linked to the quantity of factor XI in the blood. Factor XI deficiency can affect men and women and is caused by disruptions or changes (mutations) to the F11 gene.

Individuals with factor XI deficiency are regarded as haemophiliacs. They have unusual bleeding due to the lack of coagulation factors, similar to other haemophiliacs. However, the type and amount of bleeding in factor XI deficiency and the treatment vary significantly from different types of haemophilia.

Genetics and Inheritance

Multiple genetic mutations in the F11 gene, which provides instructions for manufacturing FXI, could be the origin of the disorder.

Haemophilia C is inherited in an autosomal recessive form, meaning a person must have two mutant copies of the gene — one from each biological parent — to be affected. In other situations, however, the disorder is inherited as an autosomal dominant trait, meaning that a single copy of the defective gene is adequate to cause it to develop.

Unlike haemophilia A and B, Haemophilia C affects both men and women because the F11 gene is found on chromosome 4 rather than the X chromosome.

Signs and Symptoms

Haemophilia C symptoms vary significantly and are not usually linked to FXI levels in the blood. People with lower FXI levels may bleed less than those with higher levels. As a result, predicting the severity and frequency of major bleeding purely based on the amount of FXI in the bloodstream is difficult.

Prolonged bleeding may occur after a serious physical trauma, like an accident or surgery. Tooth extraction, tonsil removal, and uterine or prostate treatment are procedures with a high risk of bleeding.

People who have the disease are also prone to nosebleeds and bruising. Joint and spontaneous bleeds and the appearance of blood in the urine are uncommon in patients with haemophilia C.

Haemophilia C can induce menorrhagia or heavy menstrual periods that last a long time and raise the risk of extended postpartum haemorrhage, which is excessive bleeding after giving birth.

Cause and Diagnosis of Haemophilia C

A coagulation factor XI deficiency causes haemophilia C, which differs from haemophilia A and B in that it does not induce joint haemorrhage. Furthermore, because the gene for factor XI is situated on chromosome 4 and is not entirely recessive, individuals who are heterozygous for the gene also possess excessive bleeding.

There are numerous mutations, and the degree of the deficiency does not always increase the risk of bleeding. Because of inhibitors to the FXI protein, haemophilia C can occur in people with systemic lupus erythematosus.

Diagnosis of Haemophilia C

The following tests should be performed in the laboratory if you suspect you have haemophilia C:

• Complete blood count (CBC)
• Evaluation of factor XI levels
• Quantification of factor VIII and von Willebrand factor
• Activated partial thromboplastin time (aPTT), Prothrombin time (PT), and thrombin time (TT)

Treatment of Haemophilia C

Haemophilia C can be treated in several ways. Replacement therapy involves giving patients an infusion of the missing clotting factor FXI.

A blood derivative, fresh frozen plasma, or FXI concentrates – items containing a concentrated form of FXI — are all sources of FXI.

Haemophilia C patients can produce inhibitors or neutralising antibodies to FXI. These immune system proteins can incorrectly attack FXI and hence reduce therapeutic effectiveness.

The US Food and Drug Administration (FDA) has approved NovoSeven for treating patients with haemophilia A or B who are using inhibitors. According to research, this therapy may also be beneficial in treating haemophilia C.

Antifibrinolytics, such as Cyklokapron (tranexamic acid), inhibit the breaking of blood clots and can be used to treat mouth bleeding and relieve heavy periods.

To avoid heavy menstrual bleeding, women may be treated with hormone treatment, which is provided as birth control medications.

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What is Haemophilia?

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