User:Mr. Ibrahem/Haemophilia A
Medical condition / From Wikipedia, the free encyclopedia
Haemophilia A is a bleeding disorder that occurs due to a genetic mutation.[1] Symptoms include easy bruising and bleeding.[1] Complications can include bleeding into joints or the brain.[1] Depending on the severity, the disease may become apparent between the newborn period and adulthood.[1]
Haemophilia A | |
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Other names | Hemophilia A; classical hemophilia;[1] factor VIII deficiency[2] |
Inherited in an X-linked manner (in majority of cases) | |
Specialty | Haematology |
Symptoms | Easy bruising and bleeding[1] |
Complications | Bleeding into joints or brain[1] |
Types | Mild, moderate, severe[1] |
Causes | Genetic disorder[2] |
Diagnostic method | Blood tests (aPTT, factor VIII activity level)[1] |
Differential diagnosis | Von Willebrand disease, haemophilia B, haemophilia C, vitamin K deficiency]][1][3][4] |
Treatment | Factor VIII concentrate[1] |
Prognosis | Often decreased life expectancy[5] |
Frequency | 1 in 5,000 newborn males[6] |
It generally occurs due to an inherited mutation, which occurs in an X-linked recessive pattern.[2] About a third of cases occur due to a new mutation.[2] Rarely it may occur later in life due to the production of antibodies against factor VIII.[1] The underlying mechanism involves a lack of factor VIII, a part of the coagulation cascade.[4] Diagnosis may be suspected based on a blood test for aPTT and confirmed by a factor VIII activity level.[1] It is divided into mild, moderate, and severe depending on a person's factor levels.[2]
Treatment is with factor VIII concentrate, with recombinant factor VIII products often recommended.[1] These may be used preventatively or when bleeding occurs.[1] Desmopressin (DDAVP) or aminocaproic acid may also be used.[1][4] Fresh frozen plasma or cryoprecipitate may be used if factor VIII is not available.[4] In those who develop inhibitors, recombinant factor VIIa or emicizumab are options.[1] Despite availability of treatment life expectancy is reduced by about 30%.[5]
Haemophilia A affects about 1 in 5,000 newborn males.[6] Males are primarily affected; though, a few females may also have the disease.[1] Of X-linked recessive disorders, it is the most common; and is 5 times more common than haemophilia B.[1][4] Descriptions of inherited bleeding disorders among males date from at least the 100s AD.[7] Medical descriptions occurred in the 1800s, with the separation of haemophilia A and B occurring in 1947.[7]