Haemophilia A Symptoms, Causes, and Treatment Options

Haemophilia A is a genetic disorder that affects the blood's ability to clot. This means that people with haemophilia A may bleed for a longer time after an injury or surgery. The condition is caused by a deficiency in a specific clotting factor in the blood.

This can lead to excessive bleeding and bruising, putting individuals at haemophilia risk for complications. Understanding the genetic basis of haemophilia A can help patients and their families manage the condition effectively and take necessary precautions to prevent bleeding episodes.

What are the Types of Haemophilia A?

Haemophilia A with Inhibitors: This rare form of haemophilia A occurs when the body develops antibodies that neutralize the effectiveness of clotting factor VIII replacement therapy, making it challenging to manage bleeding episodes effectively.
Acquired haemophilia A: Unlike the more common congenital form, acquired haemophilia A is a rare autoimmune disorder where the body mistakenly produces antibodies that attack clotting factor VIII, leading to uncontrolled bleeding episodes in individuals who do not have a family history of the condition.
Mild haemophilia A: Individuals with mild haemophilia A have higher levels of clotting factor VIII compared to those with moderate or severe forms of the condition, resulting in less frequent and less severe bleeding episodes.

What are the Symptoms of Haemophilia A?

Other symptoms include bleeding into joints and muscles, leading to pain and swelling. In severe cases, spontaneous bleeding can occur without any apparent cause. Regular monitoring and appropriate treatment can help manage these symptoms effectively.

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Easy bruising: People with haemophilia A may experience frequent and large bruises from minor injuries or no apparent cause.
Prolonged bleeding: Even small cuts or injuries can lead to prolonged bleeding episodes that may be difficult to stop.
Joint pain and swelling: haemophilia A can cause bleeding into the joints, leading to pain, swelling, and limited mobility.
Excessive bleeding after surgery or dental procedures: Individuals with haemophilia A may have difficulty controlling bleeding during medical procedures, requiring special precautions.
Blood in urine or stool: Hematuria (blood in urine) or melena (blood in stool) can occur in severe cases of haemophilia A due to internal bleeding.

What are the Causes of Haemophilia A?

This inherited bleeding disorder leads to prolonged bleeding and difficulty in forming blood clots, resulting in excessive bleeding even from minor injuries. haemophilia A is typically passed down through families, with males more commonly affected than females due to its X-linked recessive haemophilia a inheritance pattern.

haemophilia A is most commonly caused by an inherited genetic mutation in the F8 gene, which leads to a deficiency in clotting factor VIII.
Some haemophilia a causes may occur due to spontaneous mutations in the F8 gene, with no family history of the condition.
Certain medications, such as anticoagulants or haemophilia inhibitors, can interfere with the clotting process and contribute to the development of haemophilia A.
Liver disease or liver dysfunction can impair the production of clotting factors, including factor VIII, leading to haemophilia A.
Rarely, haemophilia A can be acquired in adulthood due to autoimmune reactions that destroy clotting factor VIII, leading to a deficiency and impaired blood clotting.

What are the Risk Factors for Haemophilia A?

Risk factors for haemophilia A include genetics, with the condition being inherited through an X-linked recessive pattern. Being male increases the risk, as the gene mutation responsible for haemophilia A is located on the X chromosome. Family history of the condition also plays a significant role in determining an individual's risk of developing haemophilia A.

Family history of haemophilia A increases the risk of inheriting the condition, as it is a genetic disorder passed down through generations.
Being male is a significant risk factor, as haemophilia A is an X-linked recessive disorder that predominantly affects males.
Older age can increase the risk of developing complications related to haemophilia A, such as joint damage from recurrent bleeding episodes.
Certain medical procedures, such as surgery or dental work, can raise the risk of bleeding in individuals with haemophilia A.
Lack of access to appropriate medical care and treatment can increase the risk of complications and mortality in individuals with haemophilia A.

How is Haemophilia A Diagnosed?

To diagnose haemophilia A, your doctor will ask about your symptoms and family history, followed by a physical exam and blood tests to check for clotting factors. Genetic testing may also be done to confirm the haemophilia a diagnosis. Early detection is crucial for proper management of the condition and to prevent complications. Regular check-ups are important for monitoring and managing haemophilia A effectively.

Blood tests: Diagnostic blood tests, such as a complete blood count (CBC) and clotting factor assays, can help identify abnormalities in clotting factors, indicating the presence of haemophilia A.
Genetic testing: Genetic testing can determine specific gene mutations responsible for haemophilia A, providing a definitive diagnosis and helping assess the risk of passing the condition to offspring.
Bleeding history evaluation: A detailed review of the patient's bleeding history, including frequency, severity, and spontaneous bleeding episodes, is crucial in diagnosing haemophilia A.
Physical examination: A physical examination may reveal symptoms such as joint swelling, bruising, or other signs of bleeding disorders that can aid in the diagnosis of haemophilia A.

What are the Treatment Options for Haemophilia A?

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Treatment options for haemophilia A include replacement therapy with clotting factor concentrates, which help the blood to clot properly. This can be given preventatively or during a bleeding episode. Other medications may be prescribed to manage symptoms or prevent complications. Physical therapy and lifestyle modifications can also help improve quality of life for individuals with haemophilia A.

Replacement therapy is a common treatment for haemophilia A, involving infusions of clotting factor VIII to help the blood clot properly and prevent excessive bleeding.
Desmopressin, a medication that can stimulate the release of stored clotting factors in the body, may be used in mild cases of haemophilia A to reduce bleeding episodes.
Haemophilia A patients may benefit from prophylactic treatment, which involves scheduled infusions of clotting factor to prevent bleeding episodes and protect the joints from damage.
Gene therapy is a haemophilia a treatment option for haemophilia A, aiming to introduce functional clotting factor genes into the body to enable the production of clotting factor VIII.
Managing and preventing joint damage through physical.

Can Haemophilia A be prevented?

Haemophilia A cannot be prevented since it’s a genetic disorder inherited through X-linked recessive inheritance. However, genetic counseling, carrier testing, and prenatal testing can help assess the risk for future children. While the condition itself can't be prevented, treatments are available to manage it.

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Frequently Asked Questions

Yes, Haemophilia A can still lead to bleeding episodes or complications even after successful treatment. Regular monitoring, treatment, and care are essential to manage the condition and prevent relapses.

Haemophilia A impairs the body's ability to form blood clots due to a deficiency of clotting factor VIII. This leads to prolonged bleeding, easy bruising, joint swelling, and internal bleeding, especially after trauma or surgery. Without treatment, it can cause severe health complications.

The main difference between Haemophilia A and B is the clotting factor affected. Haemophilia A is caused by a deficiency of clotting factor VIII, while Haemophilia B results from a lack of clotting factor IX. Both cause similar bleeding symptoms but are different disorders at the genetic level.

Yes, Haemophilia A is a rare genetic disorder, affecting approximately 1 in 5,000 male births. It is caused by a deficiency of clotting factor VIII, which impairs blood clotting and leads to excessive bleeding, bruising, and difficulty controlling bleeding after injuries or surgery.

Over time, Haemophilia A can cause chronic joint damage, muscle atrophy, and internal bleeding, which may lead to organ damage if bleeding episodes aren't controlled properly. Regular treatment can help manage these issues.