March calls attention to inheritable blood and bleeding disorders during Bleeding Disorders Awareness Month, as most people are unfamiliar with hemophilia or have little knowledge of the condition.

Hemophilia is a rare bleeding disorder characterized by the blood’s inability to clot correctly due to low levels of clotting factors, specifically factor VIII or factor IX. Hemophilia can lead to excessive bleeding after injuries, surgery, or spontaneous bleeding into joints, muscles, and organs.

Hemophilia is primarily an inherited disorder caused by mutations in genes on the X chromosome, affecting males more frequently than females. Females can be carriers of the genetic defect but are less likely to develop the full-blown disorder.

Hemophilia affects a significant number of individuals globally, with about 20,000 to 33,000 males in the United States living with the disorder. Individuals with hemophilia must receive appropriate medical care from specialized centers like Hemophilia Treatment Centers for comprehensive management and education on maintaining health while living with the condition.

Are there Different Types or Severity of Hemophilia?

There are different types of hemophilia, the most common being Hemophilia A and Hemophilia B. Acquired hemophilia, which is not inherited, can also occur due to various factors like pregnancy, autoimmune conditions, cancer, or drug reactions.

Hemophilia A (Factor VIII Deficiency): This is the most common type of hemophilia caused by a mutation in the F8 gene that leads to a deficiency of clotting factor VIII.

Hemophilia B (Factor IX Deficiency): Also known as Christmas disease, this type is caused by a mutation in the F9 gene leading to a deficiency of clotting factor IX.

Hemophilia C (Factor XI Deficiency): This is a less common type caused by a mutation in the F11 gene, leading to a deficiency of clotting factor XI. It is mainly autosomal recessive, unlike the X-linked inheritance of types A and B.

Rare forms of hemophilia include:

Hemophilia B Leyden: A variant of hemophilia B where individuals experience excessive bleeding in childhood but fewer issues after puberty.

Acquired Hemophilia: This is not inherited but develops when the immune system produces antibodies that attack a specific clotting factor.

What are the Symptoms of Hemophilia?

The most apparent symptom of hemophilia is bleeding that does not stop. Bleeding can result from injury, nose bleeds, or gum bleeding. Bleeding can also include bleeding into joints, causing swelling and pain, skin bruising, and muscle and soft tissue bleeding leading to hematoma (an abnormal collection of blood outside a blood vessel that leaks into the surrounding tissues due to injury or surgery). Bleeding can also include potentially life-threatening bleeding in the brain.

How is Hemophilia Diagnosed?

Diagnosis involves medical history assessment, physical exams, and blood tests to evaluate the clotting function and determine the type and severity of hemophilia.

Mild hemophilia (5-40% normal clotting factor levels):

  • Bleeding only after serious injury, trauma or surgery
  • Women may experience heavy menstrual periods and postpartum hemorrhage

Moderate hemophilia (1-5% normal clotting factor levels):

  • Bleeding episodes after injuries
  • Spontaneous bleeding episodes

Severe hemophilia (<1% normal clotting factor levels):

  • Frequent spontaneous bleeding episodes, often into joints and muscles
  • Potentially life-threatening intracranial hemorrhages
  • Internal bleeding that can damage organs and tissues

Can Hemophilia Lead to Chronic Conditions?

Depending on the type and severity of the disease, hemophilia can lead to chronic conditions, such as:

Joint Damage and Arthritis: Repeated bleeding into the joints, especially the knees, ankles, and elbows, can lead to inflammation and damage to the joint lining and cartilage, causing chronic joint pain, stiffness, and eventually osteoarthritis.

Muscle and Soft Tissue Bleeding: Bleeding into the muscles and soft tissues can cause swelling, pain, and potential nerve damage. Severe or recurrent bleeding can lead to the development of hematomas (blood clots) and permanent muscle/tissue damage.

Intracranial Hemorrhage: Bleeding into the brain or skull (intracranial hemorrhage) is a potentially life-threatening complication, especially in severe hemophilia. Symptoms include severe headache, vomiting, sleepiness, vision problems, and sudden weakness or clumsiness.

Inhibitor Development: Some individuals with hemophilia develop inhibitors, which are antibodies that attack and neutralize the clotting factor replacement treatments. Inhibitor development can make treatment more challenging and increase the risk of bleeding complications.

Viral Infections: In the past, people with hemophilia were at risk of contracting viral infections like hepatitis C from contaminated blood products used for treatment. However, this risk has been dramatically reduced with improved screening and recombinant clotting factor products.

The severity of these long-term effects depends on the type and severity of hemophilia and the quality of medical care and treatment received. Proper management and prophylactic treatment can help minimize the risk of complications.

Can Hemophilia Be Treated or Cured?

Treatment focuses on replacing missing clotting factors through infusions to enable proper blood clotting and prevent bleeding episodes. While no definitive cure for hemophilia exists, researchers are exploring innovative treatment approaches. One promising avenue involves gene therapy using mesenchymal stem cells engineered to produce high levels of the missing clotting factor. This strategy aims to transplant these modified stem cells into patients as a potential treatment for hemophilia.

These treatment options aim to address the specific long-term complications associated with Hemophilia A and B, focusing on managing symptoms, preventing further damage, and improving the quality of life for individuals with these conditions.

What Are Therapies for Hemophilia?

The primary treatment for severe hemophilia involves replacing the missing clotting factor (factor VIII or IX) through intravenous infusions. Clotting factor concentrates can be plasma-derived or recombinant (genetically engineered). This replacement therapy can be used to treat acute bleeding episodes or provided prophylactically to prevent bleeding.

Extended Half-Life (EHL) Factor Products: New EHL factor products have been developed that can be infused less frequently, reducing the treatment burden. For example, Hemlibra (emicizumab) is a weekly, bi-weekly, or monthly subcutaneous injection to prevent bleeding in hemophilia A patients.

Bypassing Agents: Medications like Amicar (epsilon aminocaproic acid) can help stabilize blood clots and prevent their breakdown. Desmopressin (DDAVP) can stimulate the release of stored factor VIII, helping manage mild hemophilia A.

Gene Therapy: Gene therapy approaches using adeno-associated virus (AAV) vectors are being studied to potentially provide a long-term solution by delivering functional clotting factor genes. Early trial results have shown promise, with some patients maintaining normal clotting factor levels for years after a single gene therapy infusion.

Managing Hemophilia can be complex, time-consuming, and often overwhelming. TwelveStone provides advanced medications, supplies, and equipment to facilitate specialty infusion services and follows a multifaceted, intensive regimen to protect your health.

Our licensed, registered clinical professionals can partner with your care team to assess and recommend care protocols regarding the type of medication you are taking, how it is infused or injected, and whether you receive your treatment in your home or at our infusion centers.

To learn how 12Stone Infusion Center can help you manage hemophilia, call us at 844-893-0012.