What are the types of hemophilia?
- Hemophilia A
- Hemophilia B
- Hemophilia C
Overview
- Hemophilia is a bleeding disorder that can lead to uncontrollable bleeding.
- Hemophilia A is caused by the underproduction of factor VIII protein.
- Hemophilia B is also known as ‘the royal disease’.
- Hemophilia C is the consequence of factor XI deficiency.
Blood is an important fluid in your body. It is the main avenue for oxygen and nutrients to reach all parts of your body. Without it, your organs cannot function or even survive. That is why it is essential to regularly check your blood’s condition. This is to monitor and quickly treat any complication that might arise.
Hemophilia, a hereditary bleeding disorder, impedes blood clotting and affects about 10,000 Filipinos, with another 1 million grappling with related bleeding conditions. This April, as we mark Hemophilia Awareness Month, let us have a thorough understanding of the different types of hemophilia.
Hemophilia A
Hemophilia type A, also known as “classic hemophilia,” occurs due to a deficiency in clotting factor VIII, or the F8 gene, which is essential for proper blood clotting. This deficiency is caused by a genetic alteration in the mutation in the F8 gene, which is passed down from parents to their children. This mutation disrupts the production or function of clotting factor VIII, leading to the development of Hemophilia A.
Symptoms of Hemophilia A can be mild with sporadic nosebleeds or bleeding gums or severe, involving internal bleeding that affects organs, muscles, or joints.
Approximately 1 in 5,000 newborn males are affected, with females less frequently impacted. Diagnosis involves symptom assessment, medical history review, and lab tests. Treatment includes administering synthetic clotting factor VIII and, for severe cases, periodic infusions to prevent complications. Mild to moderate cases may receive on-demand treatment, often self-administered at home.
Hemophilia B
Hemophilia B, also called factor IX (FIX) deficiency or Christmas disease, is a genetic disorder caused by missing or defective factor IX, a clotting protein. Although it is passed down from parents to children, about 1/3 of cases are caused by a spontaneous mutation, a change in a gene.
Individuals with Hemophilia B bleed longer, not faster, due to deficient clotting proteins. This leads to prolonged bleeding episodes from wounds or injuries.
Severity is categorized based on factor IX activity: mild cases show symptoms post-surgery or injury, while moderate to severe cases experience spontaneous or minor injury-induced bleeding. Caused by mutations in the F9 gene on the X chromosome, it primarily affects males, but carriers—females—can exhibit mild to severe symptoms and should monitor factor IX levels. Early diagnosis and management are crucial.
Hemophilia C
The last type of hemophilia is Hemophilia C, also known as Factor XI Deficiency or Rosenthal syndrome. Unlike other types, Hemophilia C involves a deficiency in factor XI, a clotting protein.
This shortage leads to slower clotting, resulting in prolonged bleeding episodes, albeit less severe than other hemophilia forms. The condition stems from variations in the F11 gene, affecting factor XI production or functionality.
Factor XI aids in generating thrombin during the clotting process, crucial for forming fibrin and stabilizing blood clots. Treatment typically involves administering fresh frozen plasma to facilitate clotting in affected individuals.
What are the Risk Factors of Hemophilia?
Hemophilia can result in many risk factors. With the severity of bleeding, here are three conditions you should be aware of if you have hemophilia.
Joint Problems
Joint problems are due to repeated bleeding caused by injuries or trauma. It is one of the main reasons why hemophilia results in chronic pain. Frequent bleeding can damage or break down the joint lining resulting in joint damage. Bone fractures can also happen.
This issue occurs in the knees, elbows, ankles, hips, and other joint areas.
Pseudotumors
Pseudotumors are rare complications that can develop in patients with severe hemophilia. Pseudotumors are hematomas which are collections of clotted blood near muscles and bones. This can be typically found in long bones, pelvis, and small bones in hands and feet.
Due to repeated bleeding, this condition worsens with progressive cystic swelling of the muscles and bones. Musculoskeletal pain can be managed through rest, exercise, and occupational therapy. Failure to treat or manage this pain can lead to serious risks.
Compartment Syndrome
Another rare risk factor of hemophilia is compartment syndrome. It is rare but severe because it builds pressure around your muscles. Increased pressure can restrict the circulation of your blood, oxygen, and nutrients to your muscles and nerves and this makes you experience more pain.
Compartment syndrome can be found in any muscle group in your body like lower legs, arms and hands, and abdomen. While hemophilia is one of the root causes of this, extreme exercise can also result in this syndrome.
Treating Hemophilia
Treating Hemophilia involves replacing the missing clotting factor, in order to enable proper clotting. This is usually achieved by injecting a clotting factor concentrated into a vein. Treatment options include episodic care, addressing ongoing bleeding, and prophylactic care, preventing future episodes.
Key Takeaway
Hemophilia, caused by deficient protein or enzyme production, causes uncontrollable bleeding. Untreated, it can worsen and intensify pain. Seek advice and treatment at Perpetual Help Medical Center-Las Piñas. Our dedicated Hematology doctors are at your service to manage and treat your blood disorders. Contact us today at (+632) 8874-8515 or 8880-7700 to book an appointment.