🧬 Genetic Disorder

Hemophilia

Also known as: Haemophilia, Classic Hemophilia, Christmas Disease, Factor VIII Deficiency, Factor IX Deficiency

Hemophilia is a rare, inherited bleeding disorder in which the blood does not clot normally. This is due to a deficiency or absence of certain clotting factors, proteins needed for blood to clot. The two main types are hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency).

ICD-10: D66 Orphanet: 408 OMIM: 306700
👥 Approximately 1 in 5,000 males for Hemophilia A; 1 in 30,000 males for Hemophilia B Prevalence
🔬 150 Active Trials

Imagine your blood is like glue that helps stop cuts from bleeding. Hemophilia is when your blood doesn't have enough of the special ingredients to make that glue, so you might bleed longer than usual if you get hurt.

Signs & Symptoms

  • Prolonged bleeding after injuries, surgery, or dental work
  • Spontaneous bleeding into joints (hemarthrosis), causing pain and swelling
  • Easy bruising
  • Nosebleeds
  • Bleeding into muscles and soft tissues
  • Blood in urine or stool
  • Prolonged bleeding after vaccinations
  • Intracranial hemorrhage (rare but serious)

Treatment Options

MEDICATION FDA Approved

Replacement Therapy (Factor VIII or Factor IX concentrates)

HIGHLY EFFECTIVE
MEDICATION FDA Approved

Prophylactic Treatment (Regular infusions of clotting factor concentrates)

HIGHLY EFFECTIVE
MEDICATION FDA Approved

On-Demand Treatment (Infusions given in response to bleeding episodes)

MODERATELY EFFECTIVE
MEDICATION FDA Approved

Desmopressin (DDAVP)

MODERATELY EFFECTIVE
MEDICATION FDA Approved

Emicizumab (Hemlibra)

HIGHLY EFFECTIVE Approved 2017
GENE THERAPY FDA Approved

Gene Therapy

HIGHLY EFFECTIVE Approved 2022
THERAPY

Physical Therapy

SUPPORTIVE
MEDICATION FDA Approved

Amicar (aminocaproic acid) or Lysteda (tranexamic acid)

MODERATELY EFFECTIVE

Diagnosis

  • Blood tests to measure clotting factor levels (Factor VIII and Factor IX)
  • Genetic testing to identify specific mutations in the F8 or F9 gene
  • Clotting assays (e.g., activated partial thromboplastin time (aPTT))

History

Hemophilia has been recognized for centuries, with descriptions dating back to ancient times. It was historically known as 'the royal disease' due to its prevalence among European royal families, particularly descendants of Queen Victoria, who was a carrier of the hemophilia B gene.

Recent Breakthroughs

2022

FDA Approves First Gene Therapy for Hemophilia B

The FDA approved Hemgenix, the first gene therapy for adults with hemophilia B. This one-time intravenous infusion delivers a functional copy of the factor IX gene to the liver, enabling patients to produce their own factor IX and reducing the need for regular infusions.

2023

FDA Approves Gene Therapy for Hemophilia A

Roctavian is approved for severe hemophilia A. This is a one-time gene therapy that reduces the need for factor VIII infusions.