Hemophilia also known as the royal disease originated in England in the 19th and 20th century, It is a sex-linked disease that is carried in the X chromosome and, therefore; has a much higher frequency in males. This genetic disorder prevents blood from clotting causing the afflicted individual to bleed out. When someone has hemophilia their blood has complications clotting thus clotting factors are either decreased in quantity, absent, or improperly formed. Even one inactive clotting factor can cause an individual affected with the disease to lose great amounts of blood. (J. Wilson, 592)
Normal mechanisms for blood clotting involve interactions between injured blood vessels, platelets, and over 20 different proteins that circulate the blood.
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Hemophilia A, the most common, involves decrease factor VIII protein, an essential blood clotting protein also known as anti-hemophilic factor. There are three levels of factor VIII protein deficiency, severe, moderate, and mild. Hemophilia A has three levels of classified based on the percentage activity of the normal factor VIII protein. Having less than 1% of the normal factor VIII activity have severe hemophilia. Half of the individuals with hemophilia fall into this category. These individuals afflicted with type A Hemophilia experience spontaneous bleeding, most frequently into their joints, skin, and muscles. Individuals with this Hemophilia are very fragile and surgical procedures or trauma can lead to severe hemorrhage and can be life threatening if not treated. Individuals with 1-5% normal VIII protein have moderate hemophilia and can be at risk of heavy bleeding after minor traumatic injury. If an individual affected with Hemophilia A have 5-40% normal factor VIII then they have mild hemophilia and they have to be careful with any surgery or dental procedure. Hemophilia B is similar to Hemophilia A, but instead of having deficient factor VIII protein an individual plagued with Hemophilia B have a deficient factor IX protein a serine proteases of the coagulation system (R. Jenkin, 41). Hemophilia C, the rarest Hemophilia, is more mild than the other two hemophilia’s and involves factor XL or plasma …show more content…
It is much more frequent in men than women because men have only one X-chromosome and women have two and because the disease is sex-linked recessive a woman needs two defective X- chromosomes while a man only needs one. This makes women carriers when they are heterozygous for the disease. This is true for type A and B Hemophilia, but type C works a little differently. Unlike A and B Hemophilia which is sex linked type C is autosomal which involves the factor XL a proenzyme, one of the enzymes that forms blood clots. This type of hemophilia, however, is codominant and having a heterozygous genotype can result in an afflicted individual with increased bleeding. (J. Lusher,
Hemophilia A is a known X-linked recessive disorder. This condition or bleeding disorder is characterized by a deficiency in the activity of a coagulation factor, which in this case is F8 or coagulation factor VIII. This condition is clinically known to be heterogeneous and its severity depends on the plasma level of the coagulation factor VIII. Varying levels of hemophilia exist which are categorized based on percentage of coagulation factor within blood plasma compared to normal levels.
Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. Females have two X chromosomes, indicating that they are generally carriers and transmit the gene to their sons. People with mild hemophilia bleed after surgery, injury, or trauma. Severe hemophilia produces spontaneous internal bleeding in joints and muscles. Fortunately, medicines and lifestyle changes offers hemophiliacs fairly normal lives. Through learning about hemophilia, I became interested in genetic diseases and finding a cure for those
The patient also has a question about thrombophilia. The father of the baby is reportedly factor V positive but we do not know whether he is heterozygous or homozygous. The patient states that her sister was tested for thrombosis and was found to be PAI 4G/4G. The patient is uncertain as to whether she has been tested but
The genetic disorder of Hemophilia is where the clotting factors of the blood are absent or deficient, causing it to be a dangerous disorder to the people who have it. This disorder is where the people who have it will bleed easily and accessibly. Different types of hemophilia are classified by different deficient clotting factors in the blood. Treatments for hemophilia are available, including transfusions of frozen
Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.
Hemophilia is an inherited bleeding disorder that is passed from mother to son. This affliction is passed in such a way due to the fact that the gene that is responsible for hemophilia is carried on the X chromosome that the child receives from his mother. For someone to be afflicted by hemophilia means that their blood has a difficult time clotting. There people do not bleed any faster than the average person, they simply cannot stop bleeding once they start bleeding. As of this current moment, there are no known cures for hemophilia, but there are many treatments that are highly effective in helping to treat many of the issues associated with the bleeding disorder. (citation)
Hemophilia is the name of a group of hereditary blood disorders that doesn’t allow the blood to clot normally (Frey 2009). More specifically hemophilia A, also known as factor VIII, is caused by a missing clotting protein coagulation factor VIII. It is often times referred to as the “Royal Disease” because of how it ran rampant through the royal families of England, Spain , Germany, and other European countries during the 19th and 20th century. Hemophilia A is inherited in X-linked recessive pattern. In males (who have only one X chromosome), one copy of the affected gene is enough to cause the condition. In females (who have two X chromosomes), a mutation on both of the genes would have to be present to cause the disorder. Because it is very unlikely that a female would have both altered copies on both of the genes females generally don’t get hemophilia. Since fathers can only pass on the Y chromosomes to their sons they can’t pass X-linked traits along (Hemophilia 2015). Hemophilia is linked to the mutation of the F8, on the X chromosome, as seen in Figure 1. Mutations in the F8 gene can cause faulty versions of the coagulation protein, therefore this protein cannot participate in the clotting process (Gersten 2014).
Blood, it flows through every human’s circulatory system, and carries with it the essential ability to clot, or become thicker, which prevents excessive bleeding for a laceration. This clotting is caused by proteins in the blood, specifically the proteins known as coagulation factor VIII and coagulation factor IX, which work with tiny particles called platelets to form the clot. However, in a rare genetic disorder known as Hemophilia, these clotting proteins are either missing from the blood or found in lower does than in the blood of the average human. This causes the patient’s blood not congeal properly when a laceration occurs, which can put the patient at risk of exsanguination, or death by loss of blood.
Hemophilia A and Hemophilia B are inherited bleeding conditions where the blood does not properly coagulate (Center for Disease Control and Prevention 2014)2. The inheritance of hemophilia progresses through a carrying of the gene inflicted and is passed on via mother to child at the time of conception. X and Y chromosomes are distinguished as being the sex hormones of the human body. Hemophilia-A in a sex-linked recessive trait disorder located on the X chromosome and otherwise absent on the Y chromosome. Being that it is located only on the X chromosome, if a son is conceived carrying the gene the disorder will inevitably develop. While in the case of females, for the disease to manifest the carrier for the gene must be on both X chromosomes which is noted to be more. Though most hemophilia diagnosis are associated with males, the chance for the inheritance
Hey do you know what hemophilia is? Well it's a bleeding disorder, when you bleed too much when having an injury making you have too much blood loss. There are treatments that can help you if you have Hemophilia ,but sadly we have no cure for it yet. When you have Hemophilia you have to stay away from things that can hurt you like when you are reading a book you have to be careful because you don't want a paper cut.The treatments that can help you when you have replacement therapy, replacement therapy is a treatment aimed at making up a deficit of a substance normally present in the body.
Hemophilia does many things to the body especially when you get a cut or a bruise. First of all you body is trying to send platelets to the wound to seal it up and heal it, but it can’t the platelets are not sticky enough. Second if you’re platelets aren’t sticky enough it will let the
Hemophilia is a bleeding disorder where the blood doesn’t clot normally. Some symptoms of hemophilia are unexplained bleeding from cuts or injuries, large deep bruises, unusual bleeding after vaccination, pain, swelling in your joints, nosebleeds without a known cause, and blood in your urine. These symptoms vary depending on the level of clotting factors. Hemophilia are inherited in an X-linked recessive pattern. The genes that are associated with these conditions are located on the X chromosome which is one of the two sex chromosomes. It's more likely males will get this disease because males only have one X chromosome but females have two X chromosomes and for them to carry hemophilia they must get it on both chromosomes.
Occasionally a baby is born with this disorder and no family history of it. When this happens, it could be caused by a hidden gene, which is when several generations of female carry it, and it has not affected any male members of the family or a spontaneous mutation. With each pregnancy, a woman who is a carrier has a 25% possibility of having a son born with hemophilia. Since the father's X chromosome is what determines if the unborn child will be a girl, all of the daughters born of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia. Individuals who suffer from mild hemophilia may choose to use a non-blood product known as Desmopressin acetate (DDAVP) to help treat the small bleeds and/or scrapes. For deep cuts or internal bleeding, the treatment called DDAVP may not be enough and therefore, may need a much more complex treatment. The clotting factor must be replenished so the affected person can form a clot to stop the bleeding. Plasma is one of the ‘human blood products’ than is used for factor replacement. Another factor replacement option is using the recombinant factor, which is produced in a laboratory.
Hemophilia is a disease in which blood clotting is severely reduced making any small injury a much bigger problem because it cannot clot by itself. The symptoms associated with this disease have to do with blood and how it clots or in this case does not. This disease is in effect whether the bleeding is internal or on the surface of the skin. Depending on the severity of the disease an affected person may bleed a little bit longer or much longer than someone who does not have hemophilia. This all depends on the amount of FVIII in the person's plasma.
Hemophilia A is the most common clotting disorder which “…accounts for approximately 85% of… [Hemophilia cases].” (Copstead-Kirkhorn, 2012, pp. 304) The cause for this clotting disorder is the deficiency of clotting factor VIII. With this factor lacking, a patient can experience abnormal bleeding accompanied by a prolonged clotting time. This disorder is also classified as X-Linked recessive. Thus, if the father has Hemophilia A and the mother does not, there is a 50% chance that the sons will have the disorder and 50% chance that the daughters will be a carrier of the disorder. It only takes one infected X chromosome to spread