Hemophilia Research Paper
Jake Onopa
Ms. Rudolph
Biology
February 13th 2015
Hemophilia
The genetic disorder I am discussing is Hemophilia, which is a rare disorder where a persons blood doesn 't clot normally because it lacks sufficient bloodclotting proteins. If a person has hemophilia, they may bleed for a longer period of time after an injury because their blood does not clot normally.
Hemophilia occurs when a person has a mutation in one of the clotting factor genes. 90% of people who have hemophilia have a mutation in the Factor VIII(8) gene.
9% have a mutation in the Factor IX(9) gene, and the other 1% have a mutation in a different clotting gene.
Hemophilia A and hemophilia B are inherited in an Xlinked recessive pattern.
The genes associated with these conditions are located on the X chromosome, which is …show more content…
Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clottingfactor level is mildly reduced, you may bleed only after surgery or trauma. If you 're deficiency is severe, you may experience spontaneous bleeding.Signs and symptoms of spontaneous bleeding include: Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work, many large or deep bruises, unusual bleeding after vaccinations, pain, swelling or tightness in your joints, and …show more content…
Emergency signs and symptoms of hemophilia include: sudden pain, swelling and warmth in large joints, such as knees, elbows, hips and shoulders, and in your arm and leg muscles, bleeding from an injury, painful, prolonged headache, repeated vomiting, extreme fatigue, neck pain, and double vision.
There is currently no cure for the disease hemophilia, but there is treatments to help with the symptoms of the disease. Treatment may involve slow injection of a medicine called desmopressin (DDAVP) by the doctor into one of the veins. DDAVP helps to release more clotting factor to stop the bleeding. Sometimes, DDAVP is given as a medication that can be breathed in through the nose (nasal spray). People who have moderate to severe hemophilia A or B may need to have an infusion of clotting factor taken from donated human blood or from genetically engineered products called recombinant clotting factors to stop the bleeding. If the potential for bleeding is serious, a doctor may give infusions of clotting factor to avoid bleeding (preventive infusions) before the bleeding begins. Repeated infusions may be necessary if the internal bleeding is
Ms. Rudolph
Biology
February 13th 2015
Hemophilia
The genetic disorder I am discussing is Hemophilia, which is a rare disorder where a persons blood doesn 't clot normally because it lacks sufficient bloodclotting proteins. If a person has hemophilia, they may bleed for a longer period of time after an injury because their blood does not clot normally.
Hemophilia occurs when a person has a mutation in one of the clotting factor genes. 90% of people who have hemophilia have a mutation in the Factor VIII(8) gene.
9% have a mutation in the Factor IX(9) gene, and the other 1% have a mutation in a different clotting gene.
Hemophilia A and hemophilia B are inherited in an Xlinked recessive pattern.
The genes associated with these conditions are located on the X chromosome, which is …show more content…
Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clottingfactor level is mildly reduced, you may bleed only after surgery or trauma. If you 're deficiency is severe, you may experience spontaneous bleeding.Signs and symptoms of spontaneous bleeding include: Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work, many large or deep bruises, unusual bleeding after vaccinations, pain, swelling or tightness in your joints, and …show more content…
Emergency signs and symptoms of hemophilia include: sudden pain, swelling and warmth in large joints, such as knees, elbows, hips and shoulders, and in your arm and leg muscles, bleeding from an injury, painful, prolonged headache, repeated vomiting, extreme fatigue, neck pain, and double vision.
There is currently no cure for the disease hemophilia, but there is treatments to help with the symptoms of the disease. Treatment may involve slow injection of a medicine called desmopressin (DDAVP) by the doctor into one of the veins. DDAVP helps to release more clotting factor to stop the bleeding. Sometimes, DDAVP is given as a medication that can be breathed in through the nose (nasal spray). People who have moderate to severe hemophilia A or B may need to have an infusion of clotting factor taken from donated human blood or from genetically engineered products called recombinant clotting factors to stop the bleeding. If the potential for bleeding is serious, a doctor may give infusions of clotting factor to avoid bleeding (preventive infusions) before the bleeding begins. Repeated infusions may be necessary if the internal bleeding is