By: Andres Solis, Laura Ornelas, and Sandra Ornelas AP Biology 3 rd period

Transcription

1 By: Andres Solis, Laura Ornelas, and Sandra Ornelas AP Biology 3 rd period

2 Rare inherited bleeding disorder where blood doesn t t clot normally People with hemophilia may bleed for a longer time than others after an injury They may also bleed internally, especially in the knees, ankles, and elbows. This bleeding can damage your organs or tissues and, sometimes, be fatal. People born with hemophilia have little to none of a protein needed for normal blood clotting. The protein is called a clotting factor. Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in the blood. About 7 out of 10 people who have hemophilia A have the severe form of the disorder. People who don t t have hemophilia have a factor VIII activity of 100 percent; people who have severe hemophilia A have a factor VIII activity of less than 1 percent

3 About 18,000 people in the United States have hemophilia. Each year, about 400 babies are born with the disorder. Hemophilia usually occurs only in males Coagulation, or clotting, is the body's mechanism to halt bleeding. It involves at least 14 sequential steps, each requiring a specific plasma protein or "factor" normally found in the blood. In hemophilia, one of the factors of the clotting sequence is deficient or absent. hemophilia also can be acquired, which means that you can develop it during your lifetime. It can develop if your body forms antibodies to the clotting factors in your bloodstream. The antibodies can block the clotting factors from working

4 The two most common forms of hemophilia are hemophilia A and hemophilia B. Hemophilia A and B have similar symptoms Hemophilia A (classic hemophilia), is caused by the deficiency of Factor VIII. Hemophilia B (also called Christmas disease, for the name of the family the disorder was first observed in), is caused by the deficiency of factor IX. Hemophilia A is four times as common, with an estimated incidence of 1 in 10,000 males, while hemophilia B is estimated to occur in one in 40,000 males. Approximately 1 woman in 5,000 is a carrier for hemophilia A, and 1 in 20,000 is a carrier of hemophilia B.

5 Replacement Therapy-giving or replacing the clotting factor that s s too low or missing. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein. (Can also be performed at home) Desmopressin (DDAVP) -is a man-made hormone used to treat people with mild to moderate hemophilia (can t t be used on people with severe hemophilia A or Hemophilia B) stimulates the release of stored factor VIII and Von Willebrand factor increases the level of these proteins in your blood, V.W.f. binds with Factor VIII which makes them stay in the bloodstream longer. It is usually given in a nasal spray or injection but since it is worn off when used often it is only used in certain situations like dental work or certain sports to reduce bleeding or prevent it.

6 Treatments cont. Antifibrinolytic Medicines-Antifibrinolytic medicines (including tranexamic acid and aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep clots from breaking down. Most often used before dental work, treating bleeding from the nose or mouth or mild intestine bleeding. Gene therapy- hasn t t been fully developed for medical treatment use but is being tested to see if able to treat genes so they can be corrected so hemophilia becomes cured Treatments chosen depend on how severe or case of hemophilia is (A or B, severe, moderate, or mild)

7 The major signs and symptoms of hemophilia are excessive bleeding and easy bruising. Bleeding can be obvious (external bleeding) or hidden within the body (internal bleeding). Bleeding in the mouth from a cut or bite or from cutting or losing a tooth Nosebleeds for no obvious reason Heavy bleeding from a minor cut Bleeding from a cut that resumes after stopping for a short time bleeding includes blood in the urine from bleeding in the kidneys or bladder and bleeding from bleeding in the intestines or stomach Bleeding in the Joints Bleeding in the Brain Internal bleeding in the brain is a very serious complication of hemophilia that can happen after a simple bump on the head or a more serious injury.

8 Inherited hemophilia implies that you got it from your parents and were born with the condition It s s caused by a defect in one of the genes that determines how the body makes blood clotting factors VIII or IX. These genes are located on the X chromosomes A male who has the abnormal gene on his X chromosome will have hemophilia. A female must have the abnormal gene on both of her X chromosomes to have hemophilia; this is very rare. A female is a carrier of hemophilia if she has the abnormal gene on one of her X chromosomes. Even though she doesn t have the condition, she can pass the gene on to her children.

9 This shows the progression of how hemophilia affects the body.

10 The diagram shows one example of how the hemophilia gene is inherited. In this example, the father doesn't have hemophillia (that is, he has two normal chromosomes X X and Y). The mother is a carrier of hemophilia (that is, she has one abnormal X chromosome and one normal X chromosome). Each daughter has a 50 percent chance of inheriting the abnormal gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the abnormal gene from his mother and having hemophilia.

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13 Citations mophilia_what.html google.com/imgres?imgurl= est.org/05aug/00112/images/knee.jpg&imgrefurl= y.thinkquest.org/05aug/00112/hemophilia.htm&usg= MpGN 2GAlMBKgP9MeriR2yI46zY0=&h=433&w=321&sz=19&hl=e n&start=13&um=1&tbnid=g76lmmx2buezpm:&tbnh=126 &tbnw=93&prev=/images%3fq%3dhemophilia%26um%3d1 %26hl%3Den%26sa%3DN nhlbi.nih.gov/health/dci/diseases/hemo philia/hemophilia_treatments.html