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).
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
Replacement Therapy (Factor VIII or Factor IX concentrates)
HIGHLY EFFECTIVEProphylactic Treatment (Regular infusions of clotting factor concentrates)
HIGHLY EFFECTIVEOn-Demand Treatment (Infusions given in response to bleeding episodes)
MODERATELY EFFECTIVEDesmopressin (DDAVP)
MODERATELY EFFECTIVEEmicizumab (Hemlibra)
HIGHLY EFFECTIVEApproved 2017Gene Therapy
HIGHLY EFFECTIVEApproved 2022Physical Therapy
SUPPORTIVEAmicar (aminocaproic acid) or Lysteda (tranexamic acid)
MODERATELY EFFECTIVEDiagnosis
- 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
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.
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.