Hemophilia Essay

Hemophilia A is an X-linked disorder caused by a deficient or defective clotting factor VIII (FVIII) protein, and characterized by spontaneous or traumatic bleeding into joints and muscles [Ragni]. It causes afflicted individuals to not be able to coagulate their blood very efficiently or at all when getting an injury in which blood is exposed either internally or externally. This disease can be very dangerous and fatal because major blood loss can occur if the patient has not received treatment.

Hemophilia is a rare genetic blood clotting disorder that primarily affects males. People living with hemophilia do not have enough of, or are missing, one of the blood clotting proteins naturally found in blood. Two of the most common forms of hemophilia are A and B. In persons with hemophilia A (also called classic hemophilia), clotting factor VIII is not present in sufficient amounts or is absent. In persons with hemophilia B (also called Christmas disease), clotting factor IX is not present in sufficient amounts or is absent. People with hemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time.

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.

In general, such carrier females do not bleed excessively, as their other X chromosome, with a gene for normal FVIII (or FIX) production, results in intermediate levels of FVIII (or FIX). However, carrier females have a fifty-fifty chance of passing their X chromosome that bears the hemophilia gene to each child they might have. A son would have an equal chance of being normal or having hemophilia. A girl would have an equal chance of being normal or being a carrier, like her

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.

He cut his small toe when he was one year old. There was unusual bleeding. He was given a blood transfusion at a local hospital. He started bleeding frequently from different sites such as, his gums, nose and ears. At the age of four, he bled from his forehead and hip after a fall. He was tested at Christian Medical College Hospital, Vellore and he was diagnosed as having Type ‘A’ Hemophilia with severity at less than 1 %.

Hemophilia A is caused by a factor VIII gene and Hemophilia B is caused by a factor IX gene, these genes are found only on the X chromosome.

When an injury occurs in a patient with Hemophilia, blood pools to the injury site to clot the blood. If the patient has either deficiency factor IX or factor VIII, there is a possibility of activating the factor XI (Stachnik 218). With deficiency factor XI, there may be mild signs and symptoms. Hemophilia can also be caused by inheriting it from family members. Having a family history of Hemophilia can actually help determine if the baby, during pregnancy, has the disease (Mayo Clinic Staff 5). When a female who is a carrier for Hemophilia has symptoms of the disease, it is likely that she could pass her child the affected X chromosome with the gene mutation on the clotting factor (Hemophilia Facts 5). Most Hemophiliacs can tell if they have a family history; however, some families have no prior history. Families with no history would have to contain a carrier female but no affected males (2). In some cases, an affected father and a carrier mother can give the child a combination of chromosomes with a certain deficiency factor, which would result in an affected female child (Blachford 524). Hemophilia can also be caused by acquiring it.

Definition Haemophilia and Genetic basis: Haemophilia is a bleeding disorder where the person’s blood clots ineffectively causing spontaneous or injury induced unnaturally rapid internal and external bleeds. This is a result of a severe lack of various clotting factors, depending on type, in the blood. A clotting factor is a protein in blood that controls bleeding. Haemophilia is described as being of sex-linked inheritance and is passed down through the family genes. There are three types of Haemophilia; Haemophilia A, B and C. Haemophilia A is the most common type and caused when there is a reduction in clotting factor VIII in the blood. Haemophilia B is caused by factor IX. Although they are cause by different clotting factor deficiencies

Hemophilia is a medical condition in which the ability of the blood to clot is severely reduced, causing the sufferer to bleed severely form even a slight injury. This causes people to bleed for long periods of time, since

Mutations in this factor lead to Hemophilia B2. Two vectors—AAV-CMV-F.IX and AAV-EIFα-F.IX—were inserted into the muscle, each having a similar role2. Both vectors were responsible for inducing the activity of the coagulation factor IXa, which is absent in patients exhibiting Hemophilia B, and plays a crucial role in blood clotting2. The results of this study showed that while the two vectors played similar roles, there were important distinctions between the two that determined the AAV-CMV-F.IX vector was more useful for XI factor deficiency2. A potential downfall of using AAV was the issue of tumors being caused in animals due to the vectors2. More studies will have to be completed to address this issue

Listing from blood in the urine to nosebleeds and many others. More symptoms include deep bruises, blood in stool, excessive bleeding, pain in joints, and tight joints. Hemophilia is usually inherited which means that the parents pass the disease to their offspring. It is caused by a pairing up with a hemophilia gene if the mom has a normal clotting and the dad doesn’t he has the hemophilia gene. However if they have a child the child will not have hemophilia because the mom is dominant over the dad. It would be a genetic tendency because the mom and dad have genes that will join together and determine to see if their child will have

Factor V, Leiden Thrombophilia, is an inherited blood clotting disorder. This is a mutation in the Factor V protein that causes blood clots. It is a very common genetic disorder. The reason for being named Factor V is because of the mutation it causes. Thrombophilia is an increased tendency to form abnormal blood clots that block the blood vessels. This genetic disorder has a lot of symptoms that can affect one's daily life. The treatment provided for this disorder is to eliminate the pain it causes because there is no cure for Factor V. The patient's care and medical intervention can influence the patient's outcome.

Hemophilia is a hereditary bleeding disorder in which people that have it lack blood clotting factor VIII. There are two types of hemophilia, Hemophilia A (Classic Hemophilia) and Hemophilia B (Christmas Disease). Hemophilia can also be known as Royal’s Disease.

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.