Christmas Disease Essay

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Factor IX Deficiency

Hemophilia is a genetic disorder. It is a rare blood disorder causing the clotting of blood to take a long amount of time resulting in abnormal bleeding, or even bleeding that won’t stop. (Hemophilia). Males are most commonly affected by hemophilia and it is often passed down through families. Hemophilia B is the second most common type of hemophilia and it is similar to the most common type of hemophilia known as hemophilia A. Hemophilia B affects males but is known as a deficiency of blood clotting factor IX. Hemophilia B can also be known as “factor IX deficiency,” or “Christmas disease.” It is known as “Christmas disease” because a man named Stephen Christmas was the first patient described with hemophilia B. (“Hemophilia 101”). If ones body does not produce a lot of factor IX, they will have severe symptoms. If you do not get treatment, Christmas disease can be fatal. Christmas disease as said before is named after a ten-year-old British boy, Stephen Christmas, who was the first patient diagnosed with this type of hemophilia. In 1952, three people named R.A. Biggs, A.S. Douglas, and Dr. Mcfarlane wrote a paper with information on Stephen Christmas’s disease and how it is different from hemophilia A which before that time people thought that was the only type of hemophilia. In 1944 a doctor in Argentina, Dr. Pavlosky, experimented in a lab where he mixed blood of two hemophiliacs. He was surprised when he came to find out that the blood of each hemophiliac caused clotting when mixed together. At the time there was no explanation for this. However, eight years later Biggs, Douglas, and Mcfarlane used Dr. Pavolsky’s discovery trying to find answers to Stephen Christmas’s bleeding disorder. After studying his disorder they came out with two types of hemophilia and came to realize the cause of each was different. Patients with hemophilia A still had factor IX which is the clotting factor for hemophilia B and hemophilia B patients missing their own clotting factor, still had A’s clotting factor. Therefore, explaining why when Pavolsky mixed the two types of blood together it resulted in clotting. After discovering this they came to call this new hemophilia Christmas disease, or hemophilia B. In the 1960’s the clotting factors were finally identified and named. Hemophilia A with factor VIII and hemophilia B with factor IX. (Hemophilia Throughout History). People with hemophilia might not have the clotting factors they need, may not make enough of the clotting factor, or the clotting factor may not be made in the correct way. A person is born with Christmas disease but it may not be diagnosed until later on. A person can usually determine if they have hemophilia by checking to see if they have an abnormal bleeding pattern. If they do have an abnormal bleeding pattern, that is usually the first clue telling someone they have hemophilia. To determine if a person has hemophilia doctors use blood tests. These tests measure how many clotting factors are in the blood and how fast they produce clots. These tests determine what type of hemophilia a person has and also how severe their condition is. It is an inherited disease in about two-thirds of cases. For the other one-third it is occurs from spontaneous gene mutations during fetal development. Hemophilia B occurs in about one in 25,000 male births and affects 3,300 individuals in the United States. (“Hemophilia B”). A person who is injured with hemophilia doesn’t bleed any harder or faster than someone without hemophilia, they just bleed longer. A small cut or bruise usually isn’t a big deal, it is the big injuries that can result in a serious problem or even a long term disability. There are three different kinds of levels of hemophilia known as mild, moderate and severe. They depend on the amount of clotting factor in the blood. People with mild hemophilia only have problems with bleeding after a serious injury or surgery. They may not notice
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