What Is Hemophilia?
The process of blood clot formation is known as coagulation. Coagulation is an essential process for the healthy healing of wounds. For the process of coagulation to happen well, some factors have to function well in the body. They are called coagulation factors. Totally, 13 coagulation factors or proteins are identified. With the help of Vitamin K, the liver will produce these clotting factors. If any deficiency of these clotting factors occurs, then it might result in a bleeding disorder called hemophilia. In hemophilia, the coagulation might not occur, or it will happen after a long duration.
Based on the missing clotting factors, hemophilia is classified into the following types.
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Hemophilia C.
What Is the Epidemiology of Hemophilia?
Hemophilia A and B are more severe conditions. Hemophilia C does not have vast medical reports to understand it clearly. However, it is also hereditary in nature. Males and females are equally affected by hemophilia C. People belonging to all the counties are affected. The rate of incidence is higher in the Jewish population. On average, one in 1,00,000 people are affected by the Jewish population. According to the World Federation of Hemophilia (WFH), one in 10,000 patients are born with hemophilia. People who belong to Southern France also have a high incidence of occurrence. It was first described in 1953 on two sisters and a maternal uncle who belonged to American Jewish background. After a tonsillectomy surgery, the two sisters had bleeding. All three people even had blood after dental extraction surgery. Approximately 30 to 50% of the people have an only partial deficiency of coagulation factors.
What Is Hemophilia C?
Hemophilia C is also called Rosenthal syndrome. It happens due to plasma thromboplastin deficiency. Hemophilia C happens due to the deficiency of factor XI. Hemophilia C is a very rare type, and it does not cause spontaneous bleeding in patients. However, there would be an intense episode of bleeding in these patients depending upon the level of missing clotting factor and severity of the condition. In hemophilia A and hemophilia B, bleeding of the joints will be noted. But, it does not happen in hemophilia C.
What Are the Causes of Hemophilia C?
Genetic defects are the main contributing factors for hemophilia C.
- Patients with systemic lupus erythematosus (SLE) (an autoimmune disease where the body’s immune system affects its own tissues and organs) are also known to be affected with hemophilia C.
- Patients with Noonan syndrome (a genetic disorder with a diverse clinical presentation that affects the body’s development) are also affected by this condition.
- Since the incidence of hemophilia C is noted to be higher in the Ashkenazi population (major ancestral groups of the Jewish population), these populations were identified to have the exact cause.
- Consanguineous marriage (marriage between closely related people) was the dominating factor in the Ashkenazi population culture. These types of marriages were also a cause for the occurrence of various genetic mutations (harmful changes in the DNA material). It is also known to increase the risk of hemophilia C. It can also cause life-threatening complications. Due to sharing of the same genes between blood relatives, consanguineous marriage is avoided in many cultures.
- Any defect in the F11 gene can highly influence the occurrence of hemophilia C. F11 gene is responsible for encoding the factor XI protein that plays an important role in the blood clotting mechanism.
- Environmental factors also play a role in causing hemophilia C.
What Are the Symptoms of Hemophilia C?
Patients with hemophilia have a general tendency of excessive bleeding. But, in hemophilia C, bleeding of the gastrointestinal tract and other regions is very rare. The condition of the occurrence of blood in urine is called hematuria. Hematuria is popularly seen in hemophilia patients. Hemophilia patients do not experience hematuria. The common symptoms associated with this condition are:
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Sudden bleeding from the oral mucosa.
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Bleeding of the gums.
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Increased tendency to bruise.
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Frequent and abnormal bleeding of the nose.
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Bleeding of the tissues under the skin.
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Menorrhagia. It is a condition in which the woman experiences bleeding during the menstrual cycle for a prolonged period of time. It is often accompanied by pain.
What Are the Diagnostic Procedures for Hemophilia C?
A proper case history is essential for the diagnosis of hemophilia C patients. The patient will be asked to perform a blood test to identify the pathological condition. The following are the tests to be performed:
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Partial Thromboplastin: Partial thromboplastin time is a method that characterizes the collaboration capacity of the blood. This test is also helpful in understanding the effectiveness of treatment procedures for hemophilia.
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Clotting Factor Test: This test is used in determining the type of hemophilia and the severity of the condition.
What Are the Treatment Options for Hemophilia C?
- Patients with hemophilia C would require medications like antifibrinolytics (medicines that facilitate blood clotting). The most commonly prescribed antifibrinolytic agents are Aminocaproic acid. They are useful for dental procedures.
- Desmopressin is a synthetic drug that is known to increase blood clotting factor VIII in patients. Though factor VIII is not deficient in hemophilia C patients, Desmopressin is a drug of choice to prevent bleeding in many surgical procedures.
- Replacement therapy with factor XI can also be performed.
- Concentrates of factor VIII are known to be considered safe and effective for usage.
What Are the Precautionary Measures to Be Followed by Pregnant Women?
Women are known to be carriers of hemophilia, and pregnant women have a higher rate of risk. The occurrence of hemophilia C in women varies from men.
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Many women are unaware of the presence of hemophilia C until they experience severe bleeding during their menstruation.
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It is very difficult to identify the frequency and severity of bleeding based on factor XI. The factor XI level is known to change during pregnancy.
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The female hormones play a supportive role in coagulation. It is also known to reduce the risk of bleeding. But, if a hemophiliac woman is pregnant, then it is necessary to consult a hematologist as soon as possible.
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This will reduce the risk of complications both in the mother and fetus. It is also necessary for the woman to get help from an obstetrician so that the pregnancy can be carried out healthily.
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An anesthesiologist should also provide help during the time of delivery. Not all women with bleeding disorders suffer higher complications during pregnancy. However, the clotting levels should be monitored by the doctor.
Conclusion:
Hemophilia C also referred to as factor XI deficiency or Rosenthal syndrome is a hereditary disorder that affects the blood clotting mechanism in the body. It is a rare type of hemophilia that occurs due to the missing blood clotting protein called factor XI. The severity of the symptoms is generally less when compared to the other types of hemophilias. They are usually treated with fresh plasma transfusion.