What is Hemophilia?
Hemophilia is also known as "The Royal Disease". It got that name from the family of Queen Victoria, who was a carrier. She passed the gene on to some of her children, who in turn passed it on to their children. Her daughters who were also carriers, married Princes from other countries. They passed Hemophilia down in their families as well.
About 1 in 5,000 males born in the United States have hemophilia. All economic groups and races are affected equally. In about 30% of cases, there is no family history of this bleeding disorder and it is just a spontaneous genetic mutation. Hemophilia is a genetic medical condition in which the ability of the blood to clot is severely reduced. The process by which the blood forms clots is called coagulation. The actual definition of coagulate is "to change from a fluid into a thickened mass". Coagulation factors are proteins, mostly manufactured by the liver. There are 13 Coagulation factors that form together to make a clot. A chemical reaction takes place and one factor will tell another factor what to do. Then that factor will tell the next factor what to do and so on. When all the factors have done their job, a clot is formed. Hemophilia is when you are missing one or more of these factors. In this situation the factors only get so far in their operation because when they get to the missing factor, there is nothing transporting the message. Think of when you set up dominos, you push one over and that one will knock over the next one and so on. If one of the dominos in missing, the line will end where that domino should of been.
About 1 in 5,000 males born in the United States have hemophilia. All economic groups and races are affected equally. In about 30% of cases, there is no family history of this bleeding disorder and it is just a spontaneous genetic mutation. Hemophilia is a genetic medical condition in which the ability of the blood to clot is severely reduced. The process by which the blood forms clots is called coagulation. The actual definition of coagulate is "to change from a fluid into a thickened mass". Coagulation factors are proteins, mostly manufactured by the liver. There are 13 Coagulation factors that form together to make a clot. A chemical reaction takes place and one factor will tell another factor what to do. Then that factor will tell the next factor what to do and so on. When all the factors have done their job, a clot is formed. Hemophilia is when you are missing one or more of these factors. In this situation the factors only get so far in their operation because when they get to the missing factor, there is nothing transporting the message. Think of when you set up dominos, you push one over and that one will knock over the next one and so on. If one of the dominos in missing, the line will end where that domino should of been.
2 most common types of Hemophilia
Hemophilia A is when a person is deficient in Factor VIII. 80% of people with Hemophilia have this type.
Hemophilia B is when a person is deficient in Factor IX. This is also called "christmas disease" because the first person diagnosed with this was Steven Christmas.
Hemophilia B is when a person is deficient in Factor IX. This is also called "christmas disease" because the first person diagnosed with this was Steven Christmas.
Severity levels of Hemophilia
Mild Hemophilia is when you have 5-50% of factor level. About 10% of people with Hemophilia are considered mild. People with mild Hemophilia have prolonged bleeding after surgery or a serious injury. This type of Hemophilia may not be discovered untill something severe happens. Some are not discovered until the person is an adult.
Moderate Hemophilia is when you have 1-5% of factor level. About 10% of people with Hemophilia are considered moderate. People with moderate Hemophilia have all the symtoms of mild Hemophilia and may also have spontaneous bleeds.
Severe Hemophilia is when you have less than 1% of factor level. 80% of people with Hemophilia are considered severe. People with severe Hemophilia will have prolonged bleeding after mild injuries, surgery, and can also have spontaneous bleeding episodes. They can also have bleeding into their joints and muscles. These bleeds will be painful and will cause swelling if not taken care of promptly. If left unattended it will cause excessive joint bleeding that can cause joint deterioration and may lead to arthritis.
Moderate Hemophilia is when you have 1-5% of factor level. About 10% of people with Hemophilia are considered moderate. People with moderate Hemophilia have all the symtoms of mild Hemophilia and may also have spontaneous bleeds.
Severe Hemophilia is when you have less than 1% of factor level. 80% of people with Hemophilia are considered severe. People with severe Hemophilia will have prolonged bleeding after mild injuries, surgery, and can also have spontaneous bleeding episodes. They can also have bleeding into their joints and muscles. These bleeds will be painful and will cause swelling if not taken care of promptly. If left unattended it will cause excessive joint bleeding that can cause joint deterioration and may lead to arthritis.
How Hemophilia gets passed down
Hemophilia affects your X gene. In a male, they have one X gene and one Y gene. A female has two X genes. This is why Hemophilia is almost always only in males. In females, the second X acts normal, therefore the female becomes a carrier but not affected. In a male, they only have one X so when it is affected he will have Hemophilia. When a male with hemophilia has a son, he will not pass it down. A male passes down his Y gene to all his sons. When he has a daughter, he will pass down the affected X gene and all of his daughters will be carriers. When a female that is a carrier has a son he has a 50/50 chance of whether or not he will get the affected X. If he does get it, he has Hemophilia. When she has a daughter she has a 50/50 chance of passing down the affected X gene, and if she does the daughter becomes a carrier. If a male with Hemophilia has children with a woman who is a carrier, their sons have a 50/50 shot of getting the affected X gene from the mother (they only get the Y gene from the father). When they have daughters, they will get the affected X gene from the father and have a 50/50 shot of getting the affected X gene from the mother. The daughters will be carriers, but if they get the affected X gene from the mother then both X genes will be affected and they will have Hemophilia.