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Olivia Dower

on 13 January 2013

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Transcript of Hemophilia

Symptoms The main symptoms of Hemophilia are excessive bleeding. This can go unnoticed until a trauma occurs or surgery. 400 babies are affected every year in the United States, a large majority of them male. Hemophilia is a bleeding disorder in which it takes a longer time for the blood to clot. This causes excessive bleeding and blood loss. Genetics of the Disease Pedigree Factor replacement therapy works by replacing the missing or nonfunctional clotting protein. Hemophilia Coagulation cascade occurs during bleeding. This is when the body has a series of reactions that helps the blood to clot. This process involves special proteins that people with Hemophilia lack. The two major types of Hemophilia are Hemophilia A and Hemophilia B. The two types are very similar but are located in mutations on different genes. Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. Hemophilia is not more common in a certain area. It can develop anywhere in the world. The first signs of Hemophilia in a young child show up in many bumps and bruises from falling. At the age of two or older is when the bleeding of joints, soft tissues and muscles are more frequently noticed.
-large or deep bruises
- joint pain and swelling caused by internal bleeding
- soft tissues and muscles
- blood in urine
- tightness in joints Symptoms in an older child or adult are: Emergency symptoms are: - Long and painful headaches
-Sudden pain, swelling, and warmth of joints
- Excessive bleeding
- Repeated vomiting
- Really tired and exhausted
- Neck pain
- Double vision Females have two X chromosomes and males have one X and one Y chromosome. Hemophilia is carried on the X chromosome. Hemophilia can be passed down from generation to generation in what is called a sex-linked recessive pattern. Women can carry the gene for hemophilia but will not be affected by it because their second X chromosome will block it out with a healthy gene. If the female carries the gene for hemophilia on one of her X chromosomes, each of her sons will have a 50% chance of getting the disease. For females to get hemophilia they would have to receive affected X chromosomes from both parents. A male with Hemophilia cannot pass the disorder to his sons, but all of his daughters will be carriers. Hemophilia A occurs in 1 in 10,000 people and Hemophilia B occurs in 1 in 40,000 people. There is currently no cure for Hemophilia, but with treatment many can live a full life. This does not cure hemophilia but temporarily treats the symptoms. In the pedigree above the square shape is the male and the circle the female. The dark blue colour represents the affected X chromosome. Tests If the mother is a known carrier, amniocentesis and chorionic villus sampling can be done to determine the sex of the child. The parents can then take an informed decision regarding continuation of pregnancy depending on whether the child is a male or a female. Activated partial thromboplastin time measures clotting factors that are absent or not working in people with Hemophilia, although it can not tell whether it is Hemophilia A or Hemophilia B.

If doctors suspect hemophilia A or B in a young child, they will do some simple lab tests. They will take a blood sample, and measure the amount of factor VIII and factor IX in the blood.
•Factor VIII is the protein which is lacking in hemophilia A.
•Factor IX is the protein which is lacking in hemophilia B. Prenatal Genetic Testing Treatment Prognosis Sources Most people with Hemophilia can have a near normal life-span because of the development of clotting factor products. Three main complications can develop: 1. Joint destruction
2. Blood-borne infection
3. Development of inhibitor antibodies - prolonged bleeding from injuries 1. "About Hemophilia" Hemophilia Moms.

2."Genetic Conditions Hemophilia." (January 7, 2013) Genetics Home Reference.

3. "Hemophilia." (28 February 2011) A.D.A.M Medical Encyclopedia , PubMed Health.

4. "Hemophilia." Medical Content Created by the Faculty of the Harvard Medical School, Sparkle People.

5. "Understanding Hemophilia." There For You.
http://www.thereforyou.com/understanding-hemophilia/ 1 2 3 4 5
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