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factor VIII
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Is an x-linked recessive bleeding disorder caused by a missing coagulation factor?
hemophilia
Is it a change in the chromosomes or a gene in hemophilia?
Hemophilia itself is really just a genetic disorder. It causes problems with blood coagulation and people with the disorder tend to bleed a lot if cut, hence the name "bleeders." The disorder is caused by a mutation in the factor VIII gene, leading to a deficiency in factor VIII. (Factor VIII is a protein that is associated with blood clotting.) The deficiency in the blood clotting factor causes the affected person's blood to clot improperly. The factor VIII gene is located on the X-chromosome and is transmitted by recessive inheritance. Males have an X-chromosome and and a Y-chromosome and females have two X-chromosomes. This means that females would only carry one of the mutant alleles for hemophilia and are said to be carriers. Females are usually found to be only carriers and rarely express hemophilia. Males, on the other hand, will receive one X-chromosome from their mother and a Y-chromosome from their father, leading to hemophilia.
Is hemophilia a result of translocation?
It can be. Basically most mutations (regardless of type; translocation, reversal, transcription, etc...) can cause hemophilia if they occur within a specific part of the genetic sequencing that codes for the production of the clotting factor proteins. This genetic sequence if found in a segment of the X chromosome.
The absence of Factor VIII is indicative of which condition?
Hemophilia
Are there carrier forms and or lethal forms of hemophilia?
Some women are carriers and there are 3 different types of hemophilia (A, B, & C) plus Von Willebrand's disease. The reason that females are carriers is that the defective gene that results in the clotting factor deficiency is located on the X chromosome and is passed on by the mother to daughter or to son. It can't be passed on from father to son but can be passed from father to daughter. I'll explain below. Understand something about genetics: Women carry two X chromosomes (XX) and men carry one X and one Y (XY). There must be two X s to make a female baby but only one Y is needed to make a male. Each parent contributes one chromosome to a baby. Because the mother will always contribute X chromosomes, it's the father who determines the sex of the baby and he does this by contributing either an X or a Y chromosome. Since the defective gene is on an X chromosome, when it comes to male children it will be the mother who passes on the gene. A mother may pass on the defective gene to her daughter and as long as the father isn't a hemophiliac himself, he won't contribute a second defective X gene and the daughter will just be a carrier and won't have the condition herself. If the father has hemophilia and the mother is a carrier, the daughter ends up with two defective genes and she WILL have hemophilia. This applies only to A & B, the more common forms. These occur, by far, mostly in males but they CAN and HAVE occurred in females. The gene that causes C can be passed on by either parent. Hemophilia A: Low or no levels of clotting factor VIII. This is the most common from of hemophilia, the "classic" form. There will be prolonged bleeding even minor cuts and wounds. The largest and most common problems are internal bleeding into the joints, organs and even muscles. Hemophilia B: Low or no levels no clotting factor IX. This form is less common than A, but leads to similar bleeding concerns. Most people with hemophilia can lead relatively normal lives if they exercise care and caution combined with prompt and adequate treatment. Hemophilia C: Low or no levels of clotting factor XI. This is the rarest form of the three. Unlike A and B, the risk for bleeding isn't influenced by how severe the XI factor deficiency is and this makes it more difficult to manage. Most people with the C type don't bleed spontaneously but do have unpredictable bleeding tendencies after surgery or trauma. And unlike A and B, this form affects males and females equally of Ashkenazi or Iraqi Jewish descent. Von Willebrands disease: Technically this isn't hemophilia but because it's a bleeding disorder, I included it. It's caused by a deficiency in a clotting protein called Von Willebrand factor and this disease affects both males & females equally, unlike hemophilia. Any hemophilia, A, B or C, is potentially lethal given the nature of the deficiency. Bleeding from head trauma poses serious risk as does bleeding into any of the vital organs.
What is the difference between Hemophilia A and Hemophilia B?
There are two types of hemophilia: hemophilia A (sometimes called classical hemophilia) and hemophilia B (sometimes called Christmas disease). Both are caused by a low level or absence of one of the proteins in the blood (called factors) that control bleeding. Hemophilia A is caused by a deficiency of factor VIII, and hemophilia B is caused by a deficiency of factor IX. There is no difference between the two types of hemophilia, except that hemophilia B is about five times less common than hemophilia A.
Which clotting factor is deficient in Hemophilia A?
Hemophilia A is an X-linked, hereditary bleeding disorder caused by the absence or defect of a blood clotting protein, Factor VIII. As a result, when a person with hemophilia A has a bleeding episode, the bleeding may be prolonged due to the body's inability to form blood clots. Patients who are affected with hemophilia A experience frequent spontaneous bleeding, most commonly into their joints and soft tissues, with bleeding into vital organs that may ... be life-threatening. Bleeding episodes may be painful, and over time, recurrent joint bleeding may result in debilitating destruction of the joints. Currently, patients with hemophilia A are dependent on injections of Factor VIII produced by genetic engineering or purified from human plasma, to help control a bleeding episode. It is estimated that approximately 50,000 individuals worldwide are affected with hemophilia A. Hemophilia A - Clotting Factor VIII Hemophilia B - Clotting Factor IX Hemophilia C - Clotting Factor XI
What is the protein that hemophiliacs lack?
In the most common type, Hemophilia A, the person lacks clotting factor VIII. In Hemophilia B, clotting factor IX is lacking.
Royal hemophilia is the result of what inheritance?
Hemophilia is broken into three subcategories; Hemophilia A, Hemophilia B, and Hemophilia C. These subcategories designate a person as having a deficiency of one of three specific clotting proteins. Hemophilia A is the deficiency of the protein called Clotting Factor VIII. Hemophilia B is the deficiency of Clotting Factor IX. Hemophilia C is the deficiency of Clotting Factor XI. "Royal" hemophilia is simply a reference to Hemophilia B and is therefore a result of a deficiency in the Clotting Factor IX protein. It is sometimes called the royal disease because it has been known to have been passed through some royal families throughout history.
What are facts about hemophilia?
There are three types of hemophilia: A, B, CQueen Victoria was a carrier of hemophilia B.Proteins are blood-clotting factors that hemophiliacs lack.Hemophilia A is Clotting Factor VIII deficiency.Hemophilia B is Clotting Factor IX deficiency.Hemophilia C is Clotting Factor XI deficiency.Hemophiliacs do not bleed more than other people, they simply bleed longer.Hemophilia is NOT contagious.
What are some of the treatments for hemophilia?
replace the clotting factor in the veins
What types of treatment are available for the sufferers of hemophilia?
The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII or clotting factor IX are slowly dripped or injected into a vein.
How do you treat heamophilia?
Standards of care for Hemophilia vary greatly around the world and from one doctor to another there are variations of care. Most doctors agree treatment of Hemophilia is administration of anti-hemophiliac factor. The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein. These infusions help replace the clotting factor that's missing or low.
Cures for hemophilia?
There no cure for hemophilia. It can be controlled. Typically there is a deficiency of a clotting factor, therefore the individual must have regular infusions of this deficient factor.
Hemophilia is caused by an?
Hemophilia is caused by missing or low levels of factor VIII
The disease that results from a failure to form blood clotting factor VIII is?
Hemophilia i think... but i could be wrong
What is an inherited abnormality that causes a deficiency of a specific clotting factor resulting in a reduced ablitity to clot blood?
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).The two types of hemophilia are caused by permanent gene changes (mutations) in different genes.
