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Chris Seales

on 1 May 2013

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Transcript of Hemophilia

http://www.ouhsc.edu/platelets/Platelet%20Pics/bloodcell1.jpg Hemophilia Work Cited Types Hemophilia appears in three different types; A, B and C. Nine out of ten people have type A. This effects humans by creating low levels of clotting factor VII, an essential blood-clotting protein. People with type B have low levels of clotting factor IX, another blood-clotting protein. Hemophilia C is more rare than the other two types and is a result of clotting factor XI deficiency. This type is non-sex-linked and can affect either sex. http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/ The Genetics Hemophilia is a recessive sex-linked, X chromosome disorder. As a result of this, males have a higher chance of receiving recessive genes therefore,Hemophilia is found predominately in the male population. One out of 5,000 men are born with this disease. The Ashkenazi Jews of Eastern Europe generally have a greater chance of being born with Hemophilia C than males and females of other demographics. http://www.hemophiliavillage.com/_img/inheritance-infographic.png Inheritance Nature Hemophilia is characterized by internal bleeding. An example of this can be found in the picture to the right http://apbiohgd.wikispaces.com/file/view/hemophilia-pictures.jpg/233810234/392x163/hemophilia-pictures.jpg Members with Hemophilia lack a protein called clotting factor which is used to stop bleeding at the site of an injury. The determination of whether a person has Hemophilia or not depends on the persons genetic makeup. Since the disease only lies on the X chromosome the disease always occurs in men; woman only carry the disease and pass it on. Although most Hemophilia cases are inherited there is also a small chance that a genetic mutation can occur and the person can develop Hemophilia. Treating Hemophilia where a male has experienced internal bleeding in the knee joint due to Hemophilia B. This event is unpredictable and cannot be stopped. This is a hemorrhage, or simply "bleeding". http://www.ouhsc.edu/platelets/Platelets/platelets%20intro.html Hemophilia is usually treated using replacement therapy. Replacement therapy is giving/replacing a Hemophiliac's clotting factors if they are too low or missing, through the act of injection or intravenously. The treatments in the therapy can be collected from human blood or created in a laboratory. Some members will receive "porphylactic" therapy to prevent bleeding, while other members will receive "demand" treatment after they start to bleed uncontrollably. In addition, another form of treatment is called "desmopressin" which is used to treat moderate forms of Hemophilia A. Research So far, research into Hemophilia has included the study of embryonic stem cells and their reactions with mice.These genetically altered mice were given a form of Hemophilia similar to Hemophilia B in humans. The embryonic cells used to treat the disease were "treated in a culture with a growth factor and then injected into the liver to reverse a form of hemophilia in mice analogous to hemophilia B in humans." The ES cells later developed into "putative endoderm precursors," where the term "endoderm" refers to the inner layer of ES cells that developed in the digestive and respiratory system. Within a few weeks, the ES cells developed into liver cells, and were able to produce clotting factor IX, 115 days after injection. Gene Therapy http://www.unc.edu/news/archives/feb05/es021505.html Gene therapy is the most promising cure for Hemophilia right now. The way that the gene therapy works is that the cells of a person that has Hemophilia are taken out. Once out of the body the cells are altered and then a new genetic material is put back into the body. The new genetic material tells the cells to produce factor 8 or factor 9 which is the clotting protein that without it Hemophilia is caused. So far the therapy has had much success in the field of gene therapy and could be very popular in the near future. Case 3. Mr. Iron will (age, 23)
(A case of severe hemophilia, psychological stress on collapse of marriage)

He was diagnosed properly only when he was eleven years old. He had gone for a swim in the river in a southern village and his head struck a boulder. He became giddy and unconscious. At Christian Medical College Hospital, his condition was diagnosed as hemophilia, ‘A’ with severity at less than 1%. He has frequent bleeds in the knee. His right knee is swollen. He suffered a head bleed again while swimming in a pool and had to be in hospital with frequent infusions of clotting factor.

He says that when there is severe pain, he loses control of himself, throwing things about, or bites his hand to vent his feelings of helplessness. Usually he applys ice, takes pain killers to relieve pain.

He got married recently, but the wife walked out on him the very next day. He says that he can not be blamed because his condition was made known to the bride and her family before marriage. The matter is before court, but the broken marriage has shattered his self-esteem. He goes into frequent bouts of depression.

He is very smart and handles his father’s business very efficiently, but he never went to a school as his parents feared that he might have problems there and with other children because of his health condition.

He has two sisters, married(not tested for carrier), His elder brother died a few years after birth.
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