Haemophilia And Genetic Basis

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

According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWF binds factor VIII, a key clotting protein, and platelets in blood vessel walls, which help form a platelet plug during the clotting process. The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d.). The seriousness of the bleeding varied between family

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

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.

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,

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 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.

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

Hemophilia describes a group of sever congenital coagulation factor deficiencies. It is a lifelong genetic disorder with a prevalence of 1:10,000 birth and that of the most severe form of the disease to be approximately 6% per 1,00,000 Population (1). Depending on the activity of coagulant factor VIII or IX in blood, hemophilia may be labeled as severe (<1% of normal), moderate (1–4%) or mild (5–25%) (2) . hemophilia is characterized by recurrent haemarthroses inside the less muscular padding joints as knees, elbows and ankles joints (3).

Hemophilia is a blood disorder that’s usually genetically inherited from parents. People born with hemophilia have little or no clotting factor – a protein needed for normal blood clotting.

However there are 30% of cases are resulted from spontaneous mutation without any family history. Factor VIII deficiency (Haemophilia A) is the commonest type while incidence of Factor IX deficiency (Haemophilia B/ Christmas disease) is one fifth of it. Haemophilia is classified into 3 categories depending on the percentage of coagulation factor activity: severe (< 1%), moderate (2-5%) and mild (5-30%). Moderate and severe haemophilia has significant clinical manifestation as the patients have spontaneous bleeding especially into joint and

Hemophilia is a problem with the blood in a person that causes them to bleed not any faster than normal, but they often bleed for a longer period. Their blood is missing the clotting factor (a protein in the bloodstream that works to control bleeding). Hemophilia is quite rare; roughly 1 in every 10,000 persons are born with it. Rarely, hemophilia can be an acquired disease which just means a person is not born with it, but will develop it during their lifetime. This rarity occurs when a person's immune system forms antibodies that attack the clotting factor in the blood. The entire antibody population fights against the blood to prevent the clotting factors from working properly.

Hemophilia is caused by a defect in one of the genes that determines how the body makes blood clot. The two blood clotting factors that are affected is factor VIII and IX. Each of these blood clotting factors are located on an X chromosome, which means hemophilia is passed on by the mother. A male who has hemophilia on his X chromosome will have hemophilia. A female who has hemophilia on her X chromosome will be a hemophilia carrier. For a girl to develop hemophilia, she must have hemophilia on both X chromosomes. Very rarely is a girl diagnosed with hemophilia. There are some cases in which a boy is born with hemophilia even though his mother was not a carrier. These cases are due to a mutation in the gene during development. Some of the signs that your child has developed hemophilia is bleeding excessively in the mouth from either a cut or losing a tooth, random nosebleeds, heavy bleeding from a small cut, and bleeding that begins again even after stopping previously. Internal bleeding may also be a sign that your