HEMOPHELIA

What is Hemophelia Is a rare bleeding disorder where the blood does not clot normally. With this disorder you may bleed longer after and injury then normal and may bleed inside your body(internally), especially in the knees, ankles and elbows. This can cause damage to your organs and can be life threatening.

What causes it ? Commonly a family history of bleeding, being male, typically born with it. Its caused by a fault in one of the genes which determines how the body makes blood clotting agents. The gene is commonly located on the X chromosome. If the father is a carrier but the mother is not then there is no risk of inheriting the trait because the boys inherit the X chromosome from their mother. All daughters will be carriers but will not develop hemophilia. The maternal X chromosome usually allows the production of enough clotting factor to prevent any serious bleeding.

How can we calculate the risk of hemophilia in offspring?

Hemophelia is a disorder that is inherited from the parents through the genes. People who are born with hemophelia have little or no clotting factor. Clotting factor is what works with the platelets to help blood clot. There are two types of Hemophelia there is hemophelia A and Hemophelia B If you have Hemophelia A you have low or are missing the levels of clotting factor VIII (8). If you have Hemophelia B you have low levels or are missing the clotting factor IX (9)

Types of Hemophelia There are two types of Hemophelia, there is” Type A which occurs in 1 in every 10,000 people and Type B which occurs in 1 in every 40,000 people. With either disorder you may have minor bleeding which may only occur under severe stress or a major injury. Moderate cases will usually only show after surgery or trauma. Severe cases will have spontaneous bleeding which is bleeding without recognizable trauma. And bleeding can occur in any part of the body, but is more common in joints, fingers, wrists and feet and spine.

Symptoms of hemophelia Some symptoms may be spontaneous bleeding along with many large or deep bruises, blood in urine or stool, Nosebleeds without known cause and tightness in your joints. Emergency signs are: Repeated vomiting, painful lasting headaches, neck pain, double vision

Complications Some complications that can occur from this condition are: Deep Internal Bleeding: Causes deep muscle bleeding which can result in swelling of limbs. Damage to joints: Bleeding can cause pressure on and damage joints. The pain can be so severe you may be reluctant to use limb or joint. Infection: at risk of infection from receiving contaminated blood products. Although the risk has decreased with the introduction of genetically engineered clotting products. There is a chance of having adverse reaction to the clotting factor.

Ways to treat hemophelia One of the main ways to treat this condition is through replacement therapy. Which concentrates on the clotting factor that is missing. The clotting factor is slowly dripped or injected into a vein. The clotting factor concentrates are made from human blood, this blood is treated to prevent any spread of diseases. You can further reduce risks by taking blood concentrates that are not made from human blood. These are recombinant clotting factors. These types only take about 15 minutes to receive and can be done at home.

Complications from replacement therapy Developing Antibodies (protein) that attack the clotting factor Developing Viral infections from human clotting factors. Damage to joints, muscles or other parts of the body resulting in delays in treatment. More info on these areas can be found on : www.nhlbi.nih.gov/health/health=topics/topics/hemophelia/treatment.html

references http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/ http://www.mayoclinic.com/health/hemophilia/DS00218/DSECTION=symptoms http://www.emedicinehealth.com/hemophilia/article_em.htm http://www.medicalnewstoday.com/info/hemophilia/causes-of-hemophilia http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/treatment.html