Hemophilia is a sex-linked genetic disorder that prevents your blood from clotting normally. The blood may clot very little but can easily dislodge. Patients with the disease can bleed for days. It is located on your X sex chromosome and is found in males of all races and ethnic groups. A female can have Hemophilia, but it is extremely rare and uncommon. Most people who had Hemophilia in the 1980’s were also diagnosed with HIV. There are two types of Hemophilia; type A and type B. Type A Hemophilia is caused by a lack or shortage of clotting factor eight. 1 out of every 5,000 male babies are born with type A. Type B is caused by a shortage of clotting factor 9. It is less common than type A and is found in 1 out of 30,000 male babies. Although males are inherited with the disease, females carry it. Females may get a genetic test to see if they carry the disease.
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Hemophilia can be mild, moderate, or severe. If you have a mild case, clotting factor 8 or 9 is 5% normal or greater. In a moderate case, clotting factor 8 or 9 is 1% to 5% normal. In a severe case, clotting factor 8 or 9 is less than 1% of normal. Also in a severe case, bleeding may happen more than once a week for no reason. A patient with severe Hemophilia is usually diagnosed during their first year of life. The percentage of a clotting factor will most likely stay the same throughout a person’s life.
There is no actual cure for Hemophilia just yet, but people with the disease can inject themselves with the clotting factors 8 and 9 to stop their bleeding. A treatment for the disease can depend on the type of Hemophilia the person has. A person’s immune system can attack the clotting factors that were injected. If this happens, then extra treatment may be needed. There is no way to prevent a child from getting Hemophilia. A genetic counselor can tell how severe the Hemophilia may be and the risk for it.
Some symptoms of Hemophilia can be bleeding into the joints, bleeding in soft tissues and muscles, or bleeding in the mouth. Symptoms may become less severe as a child gets older. It doesn’t mean that their case is any less severe, but they learn to avoid things that can lead them to bleeding. Most bleeding is caused by an injury or a twist of a joint. Most people with Hemophilia live a normal life span if they can control their bleeding with injecting themselves.
Hemophilia is caused when a person has a mutation in of their clotting genes. Almost 90% of patients have a mutation in their Factor 8 gene, and only 9% have a mutation in their Factor 9 gene. 1% of patients have a mutation in a different clotting factor gene. A doctor will make several blood tests and rule out other diseases before diagnosing Hemophilia. The diseases the doctor must rule out with similar symptoms are Von Willebrand, Dysfibrinogenemia, Hypofibrinogenemia, Thrombocytopenia, and Bernaid-Soulier Syndrome. A final blood test will determine if the person has Hemophilia, the missing factor, and the type of Hemophilia the person has. When a person is diagnosed, the mutation should be found to see if anyone else in the family carries the disorder. It is very simple to find out this information if the male has a mutation called an inversion. Almost 50% of type A patients have inversions. To test for an inversion, an DNA fingerprint must be created. There is no inversion when the fingerprint shows two very dark marks of DNA at 16.5 and 21.0 areas. But, there is an inversion when there are two dark marks at 20.0 and 17.5. If a boy has Hemophilia, the test can be used on his female blood relatives.
Hemophilia was recognized in ancient times, though it wasn’t named. An Arab physician by the name of Albucasis, wrote about a family whose male sons died from bleeding after minor injuries. In 1803, a physician named Dr. John Conrad Otto wrote about Hemophilia. He noticed that Hemophilia was only found in males and was a hereditary disease. The word “hemophilia” was written in a description at the University of Zurich in 1828 by Hopff.
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Another name for Hemophilia is “The Royal Disease”. This is because Queen Victoria carried the disease. She was the Queen of England from 1837-1901. Her son Leopold developed the disease. Leopold died from a brain hemorrhage at the age of 31, but his daughter was a carrier also. His daughter, Alice, had a male baby who also died from the disease. Two of Queen Victoria’s daughters carried the disease just like her. They gave the disease to the Russian, German, and Spanish royal families. Alexandra was Queen Victoria’s granddaughter. She married Nicholas, the Tsar of Russia in the early 1900’s. Alexandra also carried the disease and passed it on to her son, the Tsarevich Alexei.
You are probably thinking what it’s like to have this horrible disease. Males with the disease say that it is extremely painful. They talk about how they were injected as infants. A lot of their parents are very nervous and scared when they find out that their child has Hemophilia. A boy named Greg Price says that he went to summer camp with other people who have blood related diseases. He found friendship with a lot of the people who have to deal with diseases like that. He is very open with the fact that he has Hemophilia.
Overall, Hemophilia is an extremely terrifying disease that no one would like to have. It may cause someone to lose their life due to a simple cut or scratch. It is extremely painful and causes people two live with a horrifying life. Hopefully, someday there will be a cure for this dreadful disease so people with the disease can live their lives with happiness, joy, and freedom.