Introduction
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.
According to the CDC website, Hemophilia, is a hereditary bleeding disorder which affects mostly males due to X chromosome singularity. Hemophilia is a medical condition in which the blood clotting becomes a challenge for those affected. Symptoms include spontaneous bleeding from injuries or surgery. Blood contains many proteins called clotting factors that assist in blood coagulation, however; those individuals with hemophilia have low levels of either factor VIII or factor IX. The severity of the condition is determined by the amount of factor in the blood thus the lower the amount of the factor, the higher the chances that spontaneous bleeding will occur leading to more severe health complications.
If this disease causes such problems, one may wonder what causes it? Many fanatics of life science have established that hemophilia is the consequence of a mutation or change in one of the genes. This gene is the gene that provides instructions for making the clotting factor
Factor V Leiden thrombophilia is a genetic disorder that effects blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia,
Although hemophilia A and hemophilia B are caused by mutations of different coagulation factors on the X gene, they share the same symptoms. The reason that is the case is because both proteins play an essential role in the “coagulation” of the blood, so mutations in either of the proteins would result in the same symptoms and essentially, the same disease (DNA, n.d.); (The N-Terminal, n.d.).
Blood is essential to human life. It carries oxygen, nutrients and hormones all through your body with a strong pump from the heart. Steven’s inability to stop bleeding could be detrimental to his health. There are many bleeding disorders existing today but the main, most common ones are limited to hemophilia A, hemophilia B, and von Willebrand disease. Von Willebrand disease is carried on chromosome 12 and occurs equally in men and women, unlike hemophilia which is an x linked disorder typically affecting males more often. There are many other rare forms of hemophilia with deficiencies in clotting factor 1, 2, 5, 7, 10, 11, 12, and 13 but type A and B specifically involve defective genes relating to factor 8 and 9, respectively. Through the
Hemophilia is an inherited genetic disorder that can affect both males and females, but is seen more frequently in males due to the disorder being x-linked recessive. This disorder effects the human body in a way where a person cannot form blood clots because they lack clotting factors. If someone were to receive a papercut, this event lead to prolonged bleeding. The severity of hemophilia ranges from person to person depending on how abnormal or deficient their coagulation factors are (Tiunstseva et al, 2003). Hemophilia has played an important part in Europe, specifically the royal family. Queen Victoria was a carrier of this genetic disorder. She gave birth to a son who ended up having hemophilia while her other two daughters did not exhibit
Hemophilia is disorder which may be genetic or sometimes inherited ,which does not have a definite cure as yet. But if one takes good care of himself and proper treatments, people who are suffering from Hemophilia can surely lead a normal and active life.
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
This is because this allele can arise simply from mutations. It does not necessarily need to be an allele that is already floating around in the family lineage. However, once the mutation in the hemophilia gene is present, the chance of passing it on exists (HoG Handbook). It is possible, however, for the recessive allele for blood clotting to disappear from the family tree as well (HoG Handbook). This is possible if all of the family members who have hemophilia or who carry the hemophilia gene give birth to children who by chance do not inherit the gene (HoG Handbook). As far as the level of severity goes, the clotting factor level will be about the same from one generation to the next. For example, a son who inherited the recessive allele from his mother will typically have the same severity level as his mother, if she also has the disease or is a carrier of the disease. Another example is that the daughter of a man who is infected with a mild recessive allele will typically carry the allele for mild hemophilia as well. According to Hemophilia of Georgia, parents’ children will all carry the same level of severity for hemophilia (HoG Handbook). This will usually be the case, unless of course another mutation happens upon the existing mutation causing a difference in severity from the parent in comparison to the
Hemophilia has 2 types: Hemophilia A, and Hemophilia B. Hemophilia A is also known as “Factor VIII Deficiency” and Hemophilia B is also known as “Factor IX Deficiency”. Hemophilia A is more common than Hemophilia B. Hemophilia A means that the body does not have enough clotting for Factor VIII.
Hemophilia A, an X-linked genetic disease, is the most common coagulation disorder with an incidence of about 1-2 in 10,000 males and is caused by mutations in the factor VIII (FVIII) coagulation gene [PubMed1]. It causes infected individuals to not be able to coagulate their blood efficiently or at all when getting a cut or some injury in which blood is exposed. This disease can be very deadly because of major blood loss.
Hemophilia (sometimes spelled haemophilia) is a rare genetic blood disorder which prevents blood from clotting normally. There are two types of hemophilia, and they are hemophilia A and hemophilia B. Hemophilia A is also called classic hemophilia, and is caused by a mutated or missing factor VIII, which is a clotting protein. Hemophilia B is sometimes called Christmas disease, because the disorder was first reported in a patient with the last name Christmas. Hemophilia B is caused by a mutated or missing factor XI, which is also a clotting protein.
Human beings contain tens of thousands of genes that decide what characteristic will each person have from the color of their eyes to their risk of contracting various disease. Amazingly, one misplaced gene can change a person life forever. For instance,is a rare bleeding disorder in which the blood doesn't clot normally. Hemophilia is a genetic disease where there is a defect in the series of protein that forms blood clots. The series of proteins is called the coagulation cascade in which each factor activate each other in chain reaction. The last to to activate is factor 10a which in turn activates thrombin. Thrombin is an enzyme that converts fibrinogen to fibrin. The large amounts of fibrin then forms long strands and merges with platelets
The process can be done by infusing prepared factor concentrates and people who have hemophilia eventually learn how to use these infusions on their own in order to stop their bleeding episodes and, by doing the infusions regularly this for the most part can even stop most bleeding episodes from even happening. But it’s going to take good medical care from doctors and nurses who have experience in dealing with people who have the disorder in order to administer preventive solutions. The disorder of hemophilia is a genetic one which means it is inherited, and to this day there is still no cure but treatment to live with this disorder. Hemophilia can and does affect all racial and ethnic groups of people and within those groups it has been found that majority of those with hemophilia are men. Now being that this is inherited let’s look in to the chromosome theory of inheritance, this theory brings forth the idea that the genes are located on chromosomes. This line of thought was based on the experiments of Thomas Hunt Morgan using fruit flies. So, with those findings from the data given it can be deduced that
It has been clinically observed that an increase in 1-2% in the circulating levels of the deficient clotting factor can significantly enhance the bleeding diathesis, therefore the therapeutic goal for gene therapy is essential. Currently intravenous infusions of either recombinant or plasma derived factor VII or factor IX proteins plasma transfusions are the treatment option for haemophiliacs (coagulation disorder paper). The therapeutic goal for the coagulation factor gene therapy is to deliver a normal copy of the gene to produce efficient levels in plasma for normal coagulation to occur in place of a deficient or dysfunctional protein as a result of a germline mutation. Researchers have discovered that the vector system for coagulation therapy is adeno-associated virus (AAV) based strategies as they have shown to be leading the way for coagulation therapy. AAV are infectious agents that belong to the parvovirus family and result in asymptomatic infection in humans. To date, about 31 Haemophilia B patients have been treated in 5 AAV clinical trials. A clinical study to deliver factor VIII has only just one patient enrolled. As AVV viral vectors have small single stranded DNA with a genome of 4.7Kb this has presented a limitation in the introduction of factor VIII transgenes as the factor
Factor X is a vitamin K-dependent, liver produced serine protease that serves a pivotal role in coagulation as the first enzyme in the common pathway to fibrin formation. . Factor X deficiency is a rare heritable bleeding disorder with autosomal recessive inheritance pattern. General population prevalence is estimated to be 1:1000000 with up to 1:500 carriers1. Till now 50 cases of factor X deficiency have been reported in medical literature2,3,4. Inherited FX deficiency was identified by two independent groups. In 1956, Telfer and co-workers described a 22 years old woman named Miss Prower with a bleeding diathesis, she had an abnormal thromboplastin generation test result and a prolonged prothrombin time that was corrected with the addition of plasma from two patients taking coumarin analogues. In 1957, Hougie and co-workers described a 36 years old man named Mr. Stuart thought to have FVII deficiency until it was found that his plasma could correct the prolonged prothrombin time of another FVII-deficient patient. FX became known as the Stuart-Prower factor until it was given its official nomenclature