What is Hemophilia A
Hemophilia is a bleeding disorder that slows down the blood clotting process, patients with Hemophilia will bleed longer than other people. It is cause by a mutation in the F 8 gene, which is the gene that produce Coagulation Factor VIII. The mutation lead to the production of an abnormal version of Coagulation Factor VIII or reduce the amount of it. Coagulation factors are proteins that work together in the blood clotting process.
When was the disease first discovered
It was first recognized in ancient time but it was not name. 1803, Dr. John Conrad Otto, a Philadelphia physician recognized the disease was heritage and affected males. The word hemophilia first appeared in 1828 written by Hopff at the University of Zurich. It is called the Royal Disease because the hemophilia gene of Queen Victoria, who became the queen of England in 1837, was passed to the ruling families of Russia, Spain and Germany.
Incidence rate of Hemophilia A
Hemophilia is a very rare disease. 1 in 5,000 newborns in the United States have hemophilia A. Currently, an estimate of 20,000 people in US and more than 400,000 people around the world are suffering from this disease.
Male vs. Female
how Hemophilia is passed down to offsprings
Most of the time, Hemophilia patients are males, because, when baby were born, they inherited sex chromosomes from their parents, X and Y. The X chromosome is where Factor 8, the gene that causes hemophilia is caused. A female will inherit an X chromosome from both parents. A male will inherit a X chromosome from his mother and a Y chromosome from his mother. It is uncommon for females to get hemophilia because they have two X chromosomes, which is like a double security, if the X chromosome from her mom is hemophilia, the one from her dad would still be healthy. In this case, the female is called a carrier, and it is likely for her offspring to have Hemophilia. But for a male, if their only mother have the hemophilia gene, then they will have Hemophilia.
Symptoms for Hemophilia A
- large and deep bruises
- joint pain and sweeling
- unexplained bleeding
- blood in urine and stool
- bleed longer than others
- bleeding internally in joints, muscles, brain and other organs
- bleeding externally, from minor cuts, dental procedures or trauma.
the frequency of a person bleeding and the severity depends on how much F 8 is in the plasma, the straw-colored fluid portion of blood.
How is Hemophilia diagnosed
It is diagnosed through the patient's medical and family history, also there are tests to evaluate the patient's clotting time and ability to form a clot. The doctors can identify the disease through those in formations. Then, a clotting factor test, called an essay will determine the type and severity of the hemophilia.
Hemophilia can't be cured completely, but there are medications for it.
- concentrated FVIII product, called clotting factor or simply factor. They are infused through a vein in the arm or a port in the chest.
- Severe Hemophilia will be on a a routine treatment regimen, called prophylaxis. This medication it used to maintain enough clotting factor in their bloodstream to prevent bleeds
- DDAVP (desmopressin acetate) is the synthetic version of vasopressin, a natural anti diuretic hormone that helps stop bleeding. It is used for joint and muscle bleeding, for bleeding in the mucous membranes of the nose and mouth, and before and after surgery. It is in the form of an injectable form and a nasal spray
- Aminocaproic acid prevents the breakdown of blood clots. It is often recommended before dental procedures, and to treat nose and mouth bleeds. It is taken orally, as a tablet or liquid
- Emicizumab is a monoclonal antibody used for the treatment of Hemophilia A.
Patients with hemophilia had a significantly decreased life expectancy, before 1930, their average life spans is 11 years old.
Hemophilia is a sex-linked and recessive disorder.
scientist are trying to find ways to cure Hemophilia with stem cell transplants. Also, researchers are working on a method to insert better functioning factor VIII genes into the cells of hemophilia patients so their blood will clot more effectively.
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