Hemophilia A: Causes, Symptoms, and Treatment Options

Hemophilia A, commonly known as classical hemophilia, is a genetic bleeding disease characterized by low amounts of factor VIII, a blood protein. Factor VIII acts as a clotting factor. Clotting factors are specialized proteins required for proper clotting, which is the process by which blood clumps together to plug a cut and stop bleeding. People with hemophilia A do not bleed faster or more abundantly than healthy people, but they have trouble halting blood flow from a wound because their blood clots poorly. This is known as prolonged bleeding or a prolonged bleeding event. Based on the individual baseline level of factor VIII, hemophilia A can be mild, moderate, or severe. 

In mild cases, prolonged bleeding may occur after surgery, dental procedures, or trauma. Symptoms in more severely affected persons may include persistent bleeding from minor wounds, large painful bruises, and unexplainable (spontaneous) bleeding into major organs, joints, and muscles (internal bleeding). It is mostly expressed in men, but some women who carry the mutated gene may have mild, moderate, or severe symptoms of bleeding. Even though there is no permanent cure for hemophilia, effective therapies have been developed where most affected individuals can lead a healthy life by maintaining proper treatment and care. 


Prevalence Of Hemophilia A 


Hemophilia A affects one in every 5000 males and accounts for 80% of hemophilia cases. Hemophilia A affects around 400000 males worldwide, with many going undiagnosed even in developed countries. 


Causes Of Hemophilia A 


1. Gene Mutations


Interruptions or mutations in the F8 gene located on chromosome X can cause Hemophilia A. These changes may be inherited or occurred randomly with no previous family or genetic history of the disease. Females have two X chromosomal copies. Thus, if the factor VIII gene on one chromosome fails, the gene on the other chromosome can produce enough factor VIII.

Whereas men have only one X chromosome, so if factor VIII gene fails they get affected by Hemophilia A more easily. As a result, the majority of persons with hemophilia A are men.


2. Acquired Hemophilia


Some people develop hemophilia despite having no family history of the condition. This is known as acquired hemophilia.


Acquired hemophilia is when the immune system assaults the clotting factor VIII or IX in the blood. It is related with:



3. Congenital 


Some persons acquire hemophilia at birth. The very low clotting factor type classifies congenital hemophilia. 


Common Signs And Symptoms Of Hemophilia 


Bleeding is the most common symptom found in hemophilia patients. Bleeding can occur in the following ways, 


  • Bleeding into the joints - swelling, pain, tenderness, tightness in the joints. It affects the knees, elbows, and ankles.

  • Bleeding into the skin - bruising in muscles and soft tissues, causing a build-up of blood in the area.

  • Bleeding in tooth and gums

  • Bleeding after surgery - prolonged bleeding after any dental surgery or minor surgery

  • Blood in stools or urine 

  • Frequent nosebleed


Diagnosis Of Hemophilia 


1. Laboratory studies are used to suspect or diagnose hemophilia. Those tests include. 

  • Complete blood count

  • Prothrombin time (PT) test

  • Activated partial thromboplastin time test (aPTT)

  • Fibrinogen test 

  • Clotting factor test 


2. Imaging tests are done to locate the site of bleeding. Such tests include. 

  • Computed tomography.

  • MRI scans

  • Ultrasonography 


3. Testing for inhibitors is indicated when bleeding is not controlled after infusion of adequate amounts of factor concentrate during a bleeding episode. 


Management Of Hemophilia A


Administration of recombinant factor VIII replacement is recommended in hemophilia A patient for treating acute bleeding. For severe, life-threatening bleeding, administering factor VIII will attain a 100% desired factor VIII level; for mild to moderate bleeding, administering factor VIII will help achieve a 30% to 50% goal factor VIII level. Other Pharmaceutical adjuvant therapies include desmopressin, epsilon aminocaproic acid, tranexamic acid, and managing factor VIII inhibitors. 


Alphanate Injection contains human coagulation factor VIII. It is used to treat classical hemophilia (hemophilia A). This Injection is used to control or prevent bleeding episodes in individuals with hemophilia. It also helps during surgery on hemophilic individuals. Alphanate Injection temporarily replaces the missing clotting factor and prevents bleeding.

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