Hemophila Mutation

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

3. What is it about the inheritance pattern of factor viii deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait?

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

3. What is it about the inheritance pattern of factor viii deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait?

3. What is it about the inheritance pattern of factor viii deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait?

If a mother is recessive for hemophilia and passes her X chromosome to her son; that son will most likely have hemophilia. Meaning that the rates of hemophilia among males are more common than among females. Reason being is that while a female has two X chromosomes a male only has one. The only chances of a female being hemophilia is both X’s have that gene. If a male has hemophilia and reproduces his daughter will no doubt be at least a carrier for hemophilia. Hemophilia breaks into 3 categories severe, moderate, and mild. About 1% of everyone who has hemophilia will go through severe symptoms (internal bleeding, joint spontaneous bleeding etc.) Moderate is about 1-5 and mild is about the rest. Symptoms of hemophilia include cuts lasting longer, and wounds take longer to close. However in more severe cases, patients can have spontaneous internal bleeding in the joints. Without surgery and the proper procedures, this can lead to death. People who have hemophilia are usually diagnosed within the first year. Doctor’s test patience through taking a blood sample, and seeing how much of factor 8 or 9 there is. Doctor’s also see if there's any history of hemophilia in the

Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the resulting protein(s).” (U.S National Library of Medicine, 2016) The protein associated with the scenario is the factor VIII gene. The factor VIII gene presents instructions for making a protein called coagulation factor VIII. In response to injury, coagulation factor VIII is activated and separates from von Willebrand factor (vWF). The active protein interacts with another coagulation factor called Factor IX, and as a result, this interaction releases a chain of chemical reactions that form blood clots. “The altered or missing protein cannot participate effectively in the blood clotting process. As a result, blood clots cannot form properly in response to injury.” (F8, 2016) These issues with blood clotting may lead to serious bleeding which could be difficult to stop. In order for the blood clot to be produced to assist aiding the injury, it is in need of both factors to interact with each other. Having the deletion mutation process taken place, Danielle’s factor VIII gene was removed and as a result, she was found to be a carrier of Haemophilia.

Hemophilia is a hereditary and genetic mutation blood disease that does not have the ability to form a blood clot or coagulate from a small injury. The word hemophilia comes from two Greek words: haima - meaning blood and philia meaning to love. In order for the blood to clot properly, the plasma proteins also called factors need to be present in the blood. When the body forms antibodies to the clotting factors in the blood, it will stop the clotting factors from working. There are 13 types of clotting factors and they involve platelets to help the blood coagulate. Platelets also known as thrombocytes are small blood cells that form in your bone marrow to prevent blood loss by initiating a blood clot.

Haemophilia is an inherited blood clotting disorder where the blood doesn’t clot properly because there isn’t enough clotting factor VIII or IX in the blood of someone who is affected by haemophilia (ref). There are two types of haemophilia. The most common form, Haemophilia A, or Classic Haemophilia, affects people who are deficient in factor VIII and Haemophilia B, or Christmas Disease, affects people who are deficient in factor IX. Haemophilia can also be referred to as ‘the royal disease’ because it affected royal families in England, Germany, Russia and Spain in the 19th and 20th centuries. Queen Victoria from the English royal family is believed to have carried the altered gene of haemophilia having a factor XI deficiency. In Australia there are approximately 3000 people affect by haemophilia and majority of them are males, with severe haemophilia extremely rare in females, but some females do have lower factor levels and bleeding symptoms. Abnormal bleedings had first been recorded hundreds of years ago, but wasn’t announced publicly until 1803 when a physician from Philadelphia, John Conrad Otto, published an article about a hemorrhagic bleeding disorder that affect mainly males.

Hemophilia is the most common X-linked inherited bleeding disorder caused by deficiency of coagulation factors VIII (Hemophilia A) and IX (Hemophilia B) [1]. Hemophilia A has a frequency of 1 in 5000 male births, while hemophilia B has a frequency of 1 in 30,000 male births [2]. The severity of the bleeding in hemophilia depends on the level of clotting factor activity [3].

In about one-third of the babies born with hemophilia, the disorder is believed to be due to a spontaneous mutation of the gene. There is no family history of hemophilia. To determine a sex linkage inheritance of a defective trait, look at a family pedigree to notice the similarities and patterns of the trait throughout the family pedigree for example the pedigree below:

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

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

There is genetic testing available for parents concerned about hemophilia. Hemophilia can sometimes be prevented with genetic counseling, or after a prenatal intrauterine diagnosis, parents can choose to abort

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.