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GeneticICD-10: D66Hemophilia A affects approximately 1 in 5,000 male births

Hemophilia

Also known as: Bleeding Disorder, Hemophilia A, Hemophilia B, Christmas Disease

Hemophilia is a rare inherited bleeding disorder in which the blood does not clot properly due to a deficiency or absence of specific clotting factors, primarily factor VIII (hemophilia A) or factor IX (hemophilia B). People with hemophilia experience prolonged bleeding after injuries, surgery, or dental procedures, and severe cases can cause spontaneous bleeding into joints, muscles, and internal organs. Although hemophilia primarily affects males due to its X-linked inheritance pattern, females can be carriers and occasionally experience mild symptoms.

Symptoms

Excessive bleeding from cuts, injuries, or surgical procedures
Spontaneous bleeding into joints (hemarthrosis) causing pain and swelling
Unexplained large or deep bruises
Prolonged bleeding after dental work or tooth extractions
Blood in the urine (hematuria) or stool
Nosebleeds that are difficult to stop
Bleeding into muscles causing compartment syndrome
Intracranial hemorrhage in severe cases (medical emergency)

Causes

  • X-linked recessive genetic mutation affecting clotting factor genes
  • Deficiency of clotting factor VIII (hemophilia A, most common)
  • Deficiency of clotting factor IX (hemophilia B, also known as Christmas disease)
  • Spontaneous gene mutations (approximately 30% of cases have no family history)

Risk Factors

  • Family history of hemophilia
  • Male sex (X-linked recessive inheritance)
  • Being born to a female carrier of the hemophilia gene
  • Having a spontaneous new mutation in the clotting factor gene

Diagnosis

  • Complete blood count (CBC) and coagulation studies (PT, PTT)
  • Clotting factor assays to measure levels of factor VIII or IX
  • Genetic testing to identify specific gene mutations
  • Family history assessment and carrier testing for at-risk females

Treatment

  • Replacement therapy with clotting factor concentrates (recombinant or plasma-derived)
  • Emicizumab (Hemlibra) prophylaxis for hemophilia A with or without inhibitors
  • Desmopressin (DDAVP) for mild hemophilia A to stimulate factor VIII release
  • Gene therapy (valoctocogene roxaparvovec) as an emerging treatment option
  • Physical therapy to maintain joint health and mobility
  • Antifibrinolytic medications (tranexamic acid) for dental and mucosal bleeding

Prevention

  • No prevention for the genetic condition itself
  • Genetic counseling and carrier testing for families with hemophilia history
  • Prophylactic clotting factor infusions to prevent spontaneous bleeding episodes
  • Avoiding contact sports and activities with high injury risk
  • Wearing a medical alert bracelet to inform emergency responders

When to See a Doctor

  • Bleeding does not stop after appropriate first aid measures
  • You experience sudden joint swelling, warmth, or pain suggestive of joint bleeding
  • You have a head injury or develop a severe headache, neck stiffness, or vomiting
  • You notice blood in your urine, stool, or have unusual bruising patterns

Frequently Asked Questions

Related Conditions

Anemia

Metabolic

Stroke

Cardiovascular

Arthritis

Musculoskeletal

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Medical Disclaimer: This content is for educational and informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider.

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