What You Need to Know About Hemophilia (2025)

Hemophilia disease is a rare inherited bleeding disorder. People with this genetic condition do not produce sufficient clotting factors, which can cause uncontrolled external or internal bleeding. Severity ranges from mild to severe.

While there's no cure, treatments can improve blood clotting and control bleeding. With early diagnosis and effective treatment, people with hemophilia can live long, healthy lives. Without treatment, however, hemophilia life expectancy is significantly reduced.

Bleeding Traits in Hemophilia Disease

The most common bleeding problem in hemophilia is prolonged bleeding after an injury, like a cut or scrape. This happens because the blood doesn't have enough clotting factors, proteins that help form clots to stop bleeding. As a result, wounds take longer to heal, and people with hemophilia may bruise easily. These bruises are larger and take longer to heal than in people without hemophilia.

Internal bleeding is another major complication of hemophilia, especially in the knees, elbows, or ankles. Chronic joint bleeding can lead to long-term damage, making movement harder over time. Bleeding into muscles can also occur, causing swelling and pressure that may limit motion and mobility.

In severe hemophilia, bleeding can happen spontaneously without any apparent injuries. Spontaneous bleeding is especially dangerous when it occurs in the brain or abdomen, as it can be life-threatening, requiring emergency medical care.

Causes Based on Type

Problems with specific clotting factors cause the most common forms of hemophilia. Although uncommon, hemophilia can develop later in life (called acquired hemophilia) due to hemorrhagic immune system disorders unrelated to inherited forms.

Hemophilia A

Hemophilia A is caused by a deficiency in clotting factor VIII and is the most common form of hemophilia. Its causes and risk factors are:

• Inherited causes: A gene mutation on the X chromosome that is passed down from a parent
• Risk factors: Having only one X chromosome (common in those assigned male at birth), a family history of hemophilia, or a new mutation with no family history

Hemophilia B

Hemophilia B is caused by a deficiency in clotting factor IX and is less common than hemophilia A. Its causes and risk factors are:

• Inherited causes: A gene mutation on the X chromosome that is passed down from a parent
• Risk factors: As with hemophilia A, having only one X chromosome (common in those assigned male at birth), a family history of hemophilia, or a new mutation with no family history

Common Symptoms

Some of the most common hemophilia symptoms include:

• Prolonged bleeding: Occurs after cuts, scrapes, injuries, or surgery
• Bleeding gums (gingival bleeding)
• Blood in the stool (melena or hematochezia)
• Blood in the urine (hematuria)
• Brain bleed: Intracranial bleeding inside the skull causing severe headaches, vomiting, confusion, seizures, or loss of consciousness
• Easy bruising (ecchymosis)
• Heavy menstrual bleeding (menorrhagia)
• Nosebleeds (epistaxis)
• Joint bleeding (hemarthrosis)
• Muscle bleeding (intramuscular hematoma)
  
• Spontaneous bleeding: Occurs without any apparent injury
  

Recognizing these symptoms is vital for hemophilia management and preventing serious complications, especially joint damage and life-threatening internal bleeding.

Types of Treatment Options

Traditional Treatments

The most common treatments for hemophilia are:

• Clotting factor replacement therapy: Infusions of factor VIII or IX are given either on-demand (during bleeding episodes) or as prophylaxis (a preventive measure).
• Desmopressin (DDAVP): Although this medication is for diabetes insipidus (rare condition in which the body cannot regulate fluid balance), it's also used for mild or moderate cases of hemophilia A.
• Antifibrinolytic therapy: Medications like Cyklokapron and Lysteda (tranexamic acid, or TXA) help the blood clot and control bleeding, especially during dental procedures.
• Physical therapy (PT): PT can help prevent joint damage caused by recurrent bleeding.

Emerging Therapies

Although more research is needed on the treatment of hemophilia, the following therapies have shown promise:

• Extended half-life (EHL) products: Reduce how often people with hemophilia need infusions
• Hemlibra (emicizumab): A subcutaneous (under-the-skin) injection for hemophilia A
• Fitusiran: Investigational therapy targeting antithrombin to enhance clotting.
• Alhemo (concizumab): Approved by the Food and Drug Administration (FDA) in December 2024 for hemophilia A and B

Emerging gene therapy treatments for hemophilia include:

• Roctavian (valoctocogene roxaparvovec): Onetime gene therapy for severe hemophilia A
• Hemgenix (etranacogene dezaparvovec): Single-dose infusion for hemophilia B, potentially reducing the need for regular infusions
• Beqvez (fidanacogene elaparvovec): Onetime gene therapy for adults with moderate to severe hemophilia B

Comprehensive Care

• Hemophilia treatment centers (HTCs): Providing specialized care, physical therapy, and monitoring
• Patient education: Teaching patients and caregivers how to manage bleeding episodes effectively
• Lifestyle adjustments: Including low-impact exercise to strengthen joints, avoiding risky activities like contact sports, eating a healthy diet, and stress management

Prognosis After Treatment

Thanks to modern treatments, most people with hemophilia can have life spans similar to the general population. However, long-term complications can occur if the condition isn't well-managed.

Possible Complications

Complications of hemophilia include:

• Joint damage (hemophilic arthropathy): Due to repeated joint bleeds
• Intracranial hemorrhage: Brain bleeds that can cause neurological damage or death
• Development of neutralizing antibodies (inhibitors): Resulting in the immune system attacking clotting factor infusions
• Chronic anemia: Long-term condition of low levels of healthy red blood cells
• Infections: Rare but possible with plasma-derived therapies and infusions
• Thrombosis: An overreaction to treatment leading to dangerous blood clots

Regular monitoring and early intervention help prevent these complications.

When to See a Healthcare Provider

People with hemophilia should seek medical attention immediately in the following situations:

• If bleeding does not stop after treatment
• If they experience a head injury or a severe headache, which could indicate potentially life-threatening bleeding in the brain
• If they notice severe swelling or pain in a joint, which could signal internal bleeding

Additionally, symptoms such as tingling, numbness, or weakness may indicate a dangerous peripheral nerve injury. Swelling, redness, or skin that's warm to the touch could indicate a transfusion-transmitted infection that requires treatment. Prompt medical care can help prevent serious problems or permanent damage in these situations.

Summary

Hemophilia disease prevents blood from clotting, which can cause excessive bleeding. Treatments like clotting factor infusions help blood clot better, and new advances, such as gene therapy, are improving care. With proper treatment, joint protection, and injury avoidance, people with hemophilia can live long, healthy lives.