Hemophilia a
Hemophilia A (pronounced: hee-muh-FIL-ee-uh A) is a 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.
Etymology
The term "Hemophilia" is derived from the Greek words haima (blood) and philia (love), indicating an affection for blood, or rather, an inability to stop bleeding. The "A" in Hemophilia A denotes that it is caused by a deficiency in factor VIII, one of the blood clotting factors.
Symptoms
The symptoms of Hemophilia A can range from mild to severe, depending on the level of factor VIII in the blood. Common symptoms include:
- Bleeding into joints and muscles
- Spontaneous or prolonged bleeding after injuries or surgery
- Blood in urine or stool
- Unexplained and excessive bruising
Causes
Hemophilia A is caused by a mutation in the F8 gene, which provides instructions for making factor VIII. This condition is inherited in an X-linked recessive pattern, meaning the defective gene is located on the X chromosome.
Diagnosis
Diagnosis of Hemophilia A typically involves blood tests to measure the amount of clotting factors in the blood. A low level of factor VIII is indicative of Hemophilia A.
Treatment
While there is no cure for Hemophilia A, it can be managed with regular infusions of factor VIII. Other treatments may include antifibrinolytic drugs and physical therapy.
Related Terms
- Hemophilia B: Another type of hemophilia, caused by a deficiency in factor IX.
- Factor VIII: A protein that helps blood to clot.
- X-linked recessive inheritance: A mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed.
External links
- Medical encyclopedia article on Hemophilia a
- Wikipedia's article - Hemophilia a
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