Haemophilia
| Haemophilia | |
|---|---|
 |
|
| A drawing of clotting factor VIII | |
| Pronunciation | /hiːməˈfɪliə/ |
| Classification and external resources | |
| Specialty | Haematology |
| ICD-10 | D66-D68 |
| ICD-9-CM | 286 |
| ICD-O | 0117 |
| OMIM | 306700 306900 264900 |
| DiseasesDB | 29376 |
| MedlinePlus | 000537 |
| eMedicine | med/3528 |
| MeSH | D025861 |
Haemophilia, also spelled hemophilia, is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding longer after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain. Those with mild disease may only have symptoms after an accident or during surgery. Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches, seizures, or a decreased level of consciousness.
There are two main types of haemophilia: haemophilia A, which occurs due to not enough clotting factor VIII, and haemophilia B, which occurs due to not enough clotting factor IX. They are typically inherited from one's parents through an X chromosome with a nonfunctional gene. Rarely a new mutation may occur during early development or haemophilia may develop later in life due to antibodies forming against a clotting factor. Other types include haemophilia C, which occurs due to not enough factor XI, and parahaemophilia, which occurs due to not enough factor V. Acquired haemophilia is associated with cancers, autoimmune disorders, and pregnancy. Diagnosis is by testing the blood for its ability to clot and its levels of clotting factors.
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