Hemophilia: Description, Causes and Risk Factors: HemophiliaHemophilia is a genetic disorder characterized by a missing or a decreased amount of one of the clotting proteins in the blood. Some people with it lack a protein called Factor VIII. This is hemophilia A (Classic Hemophilia) and is the most common type. Other people lack a protein called factor IX. This is hemophilia B (Christmas Disease). It is a myth that people with hemophilia bleed profusely from minor cuts. The reality is that external wounds are usually not serious. Far more important is internal bleeding. This occurs in joints, especially knees, ankles and elbows; and into tissues and muscles. When bleeding occurs in a vital organ, especially the brain, the person's life is in danger. It is found all around the world and affects all races equally. It usually affects males, but in rare situations females can also have hemophilia. Women who are carriers for it may or may not have bleeding symptoms. Types: Hemophilia A and Hemophilia B. Hemophilia A affects 1 in 10,000 people. It B is less common, affecting 1 in 35,000 people. Hemophilia is caused by a gene on the “X” chromosome that does not work normally. Genes are found in the body and contain information that makes a person unique. Females have two "X" genes and males have an “X” gene and a “Y” gene. Females who have the “X” gene with the hemophilia trait are called carriers. They also have a normal “X” and do not usually have bleeding problems. Carriers of it have a 50% chance of passing on the it X gene. Sons who receive this gene will have it, daughters who receive this gene will be carriers. Daughters of males who have the Hemophilia X gene will automatically be carriers this is called an “obligate carrier”. Males with Hemophilia will not pass on hemophilia to their sons. In rare situations, a child is born with this when there is no family history. This is called a spontaneous occurrence. When this child grows up and decides to begin a family, she will start his/her own generation of this and possibly pass it on to his/her children. Symptoms: The symptoms of hemophilia include: In some cases, lengthy bleeding after circumcision.
  • Nosebleeds.
  • Bleeding for no known reasons.
  • Excessive bruising.
  • Severe bleeding after injuries or operations.
  • Swollen, painful joints.
  • Swollen, tender muscles.
  • Excessive bleeding from the gums, tongue, or mouth following injury (seen particularly in infants and toddlers).
  • Severe bleeding after tooth extractions or other invasive dental procedures.
Diagnosis: Diagnosing a bleeding disorder is important so that the doctor can take extra care if you need surgery, and can test or warn other family members who might be affected.Blood tests will show your child's levels of Factor VIII and Factor IX. The doctor can tell you whether the it is mild, moderate or severe based on the levels of these clotting factors. The level of clotting factor gives you a basic idea of how severe your child's symptoms might be - with less severe symptoms occurring in people who have higher levels of clotting factor. But they lines are not always clear. Some people with "mild" hemophilia have more severe symptoms than others. Treatment: DDAVP is a synthetic drug used for the treatment and prevention of bleeding in mild hemophilia “A”. It works by temporarily increasing levels of factor VIII in the blood stream by releasing factor VIII from storage sites. This medication may not be effective for everyone. Special DDAVP testing should be done to see how well it works. There are different types of recombinant factor concentrate products available for the treatment of this A and B. Recombinant means that the factor proteins are artificially produced and do not come from human blood. For individuals with Hemophilia A, who do not respond to DDAVP, recombinant factor VIII concentrates would be the treatment of choice. For patients with mild it, factor concentrates may not always be required for bleeding episodes. In many cases, other treatments can be used to reduce or avoid the use of factor concentrates. Antifibrinolytics may be used alone or with DDAVP or Recombinant Factor VIII or FIX. The most common antifibrinolytic is tranexamic acid, also called Cyklokapron. This medication prevents the clot from breaking down and dislodging in places where bleeding could restart such as the mouth and nose. NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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