Hemophilia (haemophilia) is a rare, usually inherited genetic disorder that impairs blood clots, a process needed to stop bleeding. Hemophilia may cause longer bleeding after an injury, easier bruising, and increased risk of internal bleeding.
Hemophilia is typically inherited from one’s parents through an X chromosome with a nonfunctional gene. Rarely a new mutation may occur during early development or hemophilia may develop later in life due to antibodies forming against a clotting factor.
Rarely, hemophilia can be acquired. Acquired Hemophilia A is non-genetic form of hemophilia caused by autoantibodies against factor VIII. Acquired hemophilia is associated with cancers, autoimmune disorders, and pregnancy.
Hemophilia Treatment and Replacement
Hemophilia can be treated by replacing the missing blood clotting factors. This may be done on a regular basis or during bleeding. Replacement may take place at home or in hospital. The clotting factors are made either from human blood or by recombinant methods. Up to 20% of people develop antibodies to the clotting factors which makes treatment more difficult.
Mild: 5-40% active clotting factor
Moderate: 1-5% active clotting factor
Severe: <1% active clotting factor
There are several types of hemophilia: hemophilia A, hemophilia B, hemophilia C, parahemophilia, and acquired hemophilia A.
Hemophilia A (haemophilia A, classic hemophilia) is a recessive X-linked genetic disorder occurring due to clotting factor VIII deficiency. About 8 out of 10 people who have hemophilia have type A hemophilia. Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in your blood. About 7 out of 10 people who have hemophilia A have the severe form of the disorder. People who don’t have hemophilia have a factor VIII activity of 100%. People who have severe hemophilia A have a factor VIII activity of less than 1%. Hemophilia usually occurs in males with about 1 in 5000 males born with hemophilia each year.
Hemophilia B (haemophilia B, Christmas disease) is a recessive X-linked genetic disorder occurring due to clotting factor IX deficiency. Hemophilia B affects about 1 in 40,000 males at birth.
Hemophilia A and B are X-linked recessive disorders. Hemophilia A and B almost are passed from mother to son through one of the mother’s genes. Most women with the defective gene are simply carriers and experience no signs or symptoms of hemophilia. Women can experience bleeding symptoms if their factor VIII or IX is moderately decreased.
In both hemophilia A and B, there is a normal bleeding time, normal prothrombin time, normal thrombin time, but prolonged partial thromboplastin time.
Hemophilia C (haemophilia C) is an autosomal genetic disorder occurring due to clotting factor XI deficiency. Hemophilia C is not completely recessive, as heterozygous individuals also show increased bleeding. Hemophilia C can be passed on by either parent, occurs equally in both sexes and is mostly found in Ashkenazi Jews. Signs and symptoms are often mild.
Parahemophilia (Parahaemophilia, Owren’s disease) is an inherited or acquired disorder occurring due to clotting factor V deficiency. Parahemophilia is a mild and rare form of hemophilia.
The word Hemophilia (haemophilia) is from the Greek haima αἷμα meaning blood and philia φιλία meaning love.
Hemophilia Related Products
- Chromogenix Coamatic® Factor VIII (K822585) – chromogenic assay test kit for factor VIII activity measurement.
- Chromogenix Coatest® SP Factor VIII (K824086) – chromogenic assay test kit for factor VIII activity measurement.
- Chromogenix Coatest® SP4 Factor VIII (K824094) – chromogenic assay test kit for factor VIII activity measurement.
- Technochrom® Factor VIII:C* (5344101) – chromogenic assay test kit for factor VIII activity measurement.
- Technochrom® Factor VIII:C for Ceveron® Alpha* (5344103) – chromogenic assay test kit for factor VIII activity measurement for use with Ceveron® Alpha.
Factor VIII Inhibitor
- Technoclone Factor VIII Inhibitor Reagent Kit* (5152005) – Bethesda assay test kit for factor VIII inhibitor measurement.
- Technoclone FVIII Inhibitor Plasma* (5159008)
- Technoclone FVIII Inhibitor Plasma Hcv Neg.* (5159010)
- Technoclone FVIII Deficient Plasma, Immund.* (5154002)
- Technoclone FVIII Deficient Plasma, Native* (5154007)
- Technoclone FVIII Inhibitor Reagent Kit Hcv Neg.* (5152009)
- Rox Factor IX* (900020) – chromogenic assay test kit for factor IX measurement.
* For Research Use Only in the US and Canada