Hemophilia C: Causes and Treatments

Hemophilia C, a rare bleeding disorder, is often overshadowed by its more commonly known counterparts, Hemophilia A and B. Despite its rarity, understanding Hemophilia C is crucial for accurate diagnosis and effective treatment. We delves into the causes, symptoms, diagnosis, and treatment options for Hemophilia C, providing a comprehensive overview of this complex condition.

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What is Hemophilia C?

Hemophilia C, also known as Rosenthal syndrome, is a bleeding disorder characterized by a deficiency of Factor XI, a protein essential for blood clotting. Unlike Hemophilia A and B, which are caused by deficiencies in Factor VIII and Factor IX respectively, Hemophilia C involves a different pathway in the coagulation cascade.

Difference Between Hemophilia A, B, and C

The primary distinction between Hemophilia A, B, and C lies in the specific clotting factor deficiency. While Hemophilia A and B are X-linked recessive disorders, meaning they predominantly affect males, Hemophilia C is an autosomal recessive condition. This implies that both males and females can be equally affected.

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Causes of Hemophilia C

The underlying cause of Hemophilia C is a genetic mutation that leads to a deficiency or dysfunction of Factor XI. This mutation can be inherited or occur spontaneously. The genetics of Hemophilia C are complex, and understanding the specific mutations involved can aid in diagnosis and treatment planning.

Genetics of Hemophilia C

Hemophilia C is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to exhibit symptoms of the disorder. Carriers, who have one copy of the defective gene, typically do not show symptoms but can pass the gene to their offspring.

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Symptoms of Hemophilia C

The symptoms of Hemophilia C can vary widely, from mild to severe. Unlike Hemophilia A and B, spontaneous bleeding is less common. Instead, individuals with Hemophilia C often experience prolonged bleeding following surgery, dental procedures, or trauma.

Common Symptoms

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Diagnosis of Hemophilia C

Accurate diagnosis of Hemophilia C is essential for effective management. The diagnostic process typically involves a combination of clinical evaluation and laboratory tests.

Laboratory Tests for Hemophilia C

Several laboratory tests are used to diagnose Hemophilia C:

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Treatment Options for Hemophilia C

While there is no cure for Hemophilia C, various treatment options can effectively manage the condition and prevent complications.

Replacement Therapy

Replacement therapy involves infusing Factor XI concentrates to replace the deficient protein in the blood. This therapy is typically used during surgical procedures or following significant trauma to prevent excessive bleeding.

Antifibrinolytic Agents

Antifibrinolytic agents, such as tranexamic acid, help prevent the breakdown of blood clots. These medications are often used in conjunction with replacement therapy to enhance clot stability.

Fresh Frozen Plasma (FFP)

In situations where Factor XI concentrates are not available, fresh frozen plasma (FFP) may be used. FFP contains all the clotting factors, including Factor XI, and can be used to manage bleeding episodes.

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Living with Hemophilia C

Managing Hemophilia C requires a proactive approach to prevent bleeding episodes and address complications promptly. Regular follow-ups with a hematologist and a personalized treatment plan are essential components of effective management.

Preventive Measures