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Mutations in the F8 and F9 genes cause hemophilia. Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. Coagulation factors are proteins that work together in the clotting process. After an injury, blood clots protect the body by sealing off damaged blood vessels and preventing further blood loss. Mutations in the F8 or F9 gene lead to the production of an abnormal version of coagulation factor VIII or coagulation factor IX. The altered protein cannot participate effectively in the blood clotting process and, in some cases, the protein does not work at all. A shortage of either protein prevents clots from forming properly in response to injury. These problems with blood clotting lead to excessive bleeding that can be difficult to control. Some mutations almost completely eliminate the activity of coagulation factor VIII or coagulation factor IX, resulting in severe hemophilia. Other mutations reduce but do not eliminate the activity of one of these proteins, which usually causes mild or moderate hemophilia. The other, rare form of this condition, acquired hemophilia, results when the body makes specialized proteins called autoantibodies that attack and disable coagulation factor VIII. The production of autoantibodies is sometimes associated with pregnancy, immune system disorders, cancer, or allergic reactions to certain drugs. In about half of cases, the cause of acquired hemophilia is unknown. Read more about the F8 and F9 genes. Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the altered gene to her children, but usually does not experience signs and symptoms of the disorder. In about 10 percent of cases, however, females who carry one altered copy of the F8 or F9 gene will experience mild problems with bleeding. From: http://ghr.nlm.nih.gov/condition=hemophilia
What else can I help you with?
Is hemophilia a defect?
Hemophilia is a genetic mutation of the sex-linked X chromosome.
What is a carrier for hemophilia?
A carrier for hemophilia is a female who carries the genetic mutation for hemophilia on one of her X chromosomes, but does not exhibit symptoms of the condition herself. Carriers can pass on the gene mutation to their children, resulting in hemophilia in male offspring. Testing can confirm carrier status.
What happens to the DNA that results Hemophilia A?
There are several different mutations that can cause hemophilia and there is no typical answer to this question. There are different segments of code on the X chromosome that is responsible for enabling production of Factors VIII & IX. A mutation anywhere within these areas can be responsible for hemophilia. The type of mutation as well as the location of the mutation in that code can influence the severity of hemophilia as well. Lets look at a reversal mutation that results in the creation of a stop codon (this type of mutation is often called a nonsense mutation) early on in the code sequence. The stop codon tells the machinery to stop production of the factor protein molecule at that point. In this case, the molecule would never actually be made. If we look instead at a point mutation resulting in simply an incorrect amino acid in that location (often called a missense mutation) half way through the code sequence, results can vary dramatically. The factor molecule will be made incorrectly, either not functioning for its purpose at all or simply doing a less than efficient job. I hope that helps some.
Royal hemophilia is the result of inheritance?
Yes, royal hemophilia, also known as the "Royal disease," is a hereditary bleeding disorder caused by a mutation in the gene responsible for producing a blood clotting protein. It is inherited on the X chromosome. Because males have only one X chromosome, they are more likely to express the hemophilia trait if they inherit the mutated gene.
Could two phenotypically normal parents have a child with Hemophilia A?
XhXh - with hemophilia XhXH- carrier of hemophilia
What is the type of mutation that causes hemophilia?
There is no single type of mutation that causes Hemophilia A. It is not the type of mutation but rather the location of the mutation within the genetic code.
What is the mutation in hemophilia?
Hemophilia is a mutation of either of the genes that make factor VII or IX. Hemophilia A is a mutation of the F8 gene and Hemophilia B is the mutation of the F9 gene. Both of these mutations occur on the sex-linked X chromosome.
Is hemophilia a insertion mutation?
Maybe
Is hemophilia a defect?
Hemophilia is a genetic mutation of the sex-linked X chromosome.
What is a carrier for hemophilia?
A carrier for hemophilia is a female who carries the genetic mutation for hemophilia on one of her X chromosomes, but does not exhibit symptoms of the condition herself. Carriers can pass on the gene mutation to their children, resulting in hemophilia in male offspring. Testing can confirm carrier status.
Is hemophilia caused by inbreeding?
No, hemophilia is a genetic disorder caused by a mutation in the genes responsible for blood clotting, and it is not directly caused by inbreeding. Inbreeding can increase the likelihood of inheriting genetic disorders, including hemophilia, if the mutation is present in the family's gene pool.
Does frame shift mutation affect hemophilia?
Frame shift mutations that occur on the X chromosome and within the potion of code that controls the formation of clotting factors can cause hemophilia. Frame shift mutations are only one of many types of mutations that can cause the disorder. For hemophilia it's not so much the type of mutation but the location of the mutation within the genetic code.
Why are females less likely to get hemophilia?
Females are less likely to show the symptoms of hemophilia but in actuality are more likely to have the genetic mutation for hemophilia. The reason they are less likely to show the symptoms is the fact that hemophilia is the result of a mutation on the X chromosome. Since females have two X chromosomes they likely have a chromosome that is not mutated as well. With the mutation normally being a recessive trait, the normal X chromosome is usually expressed instead. Since males only have one X chromosome, if the mutation for hemophilia is present, it will be expressed. For the same reasons, the chances of a female having the mutation is greater (however still very small), simply because she has two X chromosomes.
Which chromosome contains the gene for hemophilia?
The X chromosome. That's why it's more common in males; females have 2 X chromosomes, but males only have 1. So if a woman has the hemophilia mutation on one of her chromosomes, she probably won't be affected by it.
What happens to the DNA that results Hemophilia A?
There are several different mutations that can cause hemophilia and there is no typical answer to this question. There are different segments of code on the X chromosome that is responsible for enabling production of Factors VIII & IX. A mutation anywhere within these areas can be responsible for hemophilia. The type of mutation as well as the location of the mutation in that code can influence the severity of hemophilia as well. Lets look at a reversal mutation that results in the creation of a stop codon (this type of mutation is often called a nonsense mutation) early on in the code sequence. The stop codon tells the machinery to stop production of the factor protein molecule at that point. In this case, the molecule would never actually be made. If we look instead at a point mutation resulting in simply an incorrect amino acid in that location (often called a missense mutation) half way through the code sequence, results can vary dramatically. The factor molecule will be made incorrectly, either not functioning for its purpose at all or simply doing a less than efficient job. I hope that helps some.
Is hemophilia visble in karyotype?
No. The X chromosome with the mutation will look no different than any other X chromosome. In order to see the mutation you would have to actually examine the base pairs and sequences. A single reversal, translation, deletion, or mutation of any kind within the specific segment of code can result in hemophilia. This will not result in an overall change in appearance of the chromosome.
Is hemophilia a hereditary disease or acquired from microorganisms?
Hemophilia is not acquired from microorganisms. Hemophilia is typically a genetic disorder that can either be inherited or result from a random mutation. In rare cases non genetic forms (that can not be inherited or passed on) of hemophilia can be acquired due to liver impairment, and certain medications.
