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
Hemophilia is the oldest know, lifelong bleeding disorder(“Hemophilia”2004). It is named for two inherited diseases in which the blood does not clot normally. Several different plasma proteins must be present for blood to clot property. If one of the plasma proteins is missing, or present at low levels, blood clots very slowly(“Hemophilia” The Marshall Cavendish). The two most common types of hemophilia are: Hemophilia A or FactorVIII(8) deficiency and Hemophilia B of FactorIX(9) deficiency(“Hemophilia” 2002). People with Hemophilia A have low levels of one kind of blood clotting protein and people with Hemophilia B have low levels of another kind(“Hemophilia” The new book).
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
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.
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.
Research over the past 50 years has demonstrated that using prophylactic treatment regimens in children with haemophilia can prevent repeated bleeding into the joints; subsequently reducing hospitalization, chronic pain, and disability—ultimately resulting in improved quality of life (QoL) [1-4]. Prophylaxis in children with severe haemophilia is a grade 1A recommendation based on strong evidence from both randomized controlled trials (RCTs) and observational research . While primary prophylaxis is undoubtedly the gold standard for preserving joint function in children with severe haemophilia, there is an ongoing debate about prophylaxis in adolescent and adult persons with haemophilia (PWH) [6-8]. The benefits of
There are two types of Hemophilia, type A and type B, Hemophilia A is associated with blood clots after injury or a type of surgery, Hemophilia A is a disease in which a type of protein that is used to stop clotting is changed or mutated. This all starts after the bleeding has begun, little molecules send out a signal for a protein called factor 12 to be activated, then this protein goes on to activate other proteins till the protein Fibrinogen is activated which stops the bleed and forms a stable clot, but, when Hemophilia is brought in, this can cause major problems. It occurs in the factor 8 gene. Hemophilia causes this gene to be mutated, which is located on the X chromosome. The instructions for making the gene are altered which makes the protein changed as well. In a minor case only a small part of
Hemostasis is the process whereby blood coagulates at the site of an injury to a blood vessel. Cellular components involved in hemostasis include platelets, endothelial cells of blood vessels, tissue factor-bearing cells, and coagulation factors (Davoren & Wang, 2014). Coagulation factors are specialized plasma proteins that circulate in the bloodstream in inactive forms. Most coagulation factors are activated by enzymes that catalyze their conversion to active forms. The active forms then contribute to hemostasis. Factors VIII (FVIII) and IX (FIX) are the factors involved in the most common forms of hemophilia. The coagulation cascade has many steps and reciprocal interactions; however, FVIII and FIX are most involved with the following steps:
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.).
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.
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.
Hemophilia A, the most common, involves decrease factor VIII protein, an essential blood clotting protein also known as anti-hemophilic factor. There are three levels of factor VIII protein deficiency, severe, moderate, and mild. Hemophilia A has three levels of classified based on the percentage activity of the normal factor VIII protein. Having less than 1% of the normal factor VIII activity have severe hemophilia. Half of the individuals with hemophilia fall into this category. These individuals afflicted with type A Hemophilia experience spontaneous bleeding, most frequently into their joints, skin, and muscles. Individuals with this Hemophilia are very fragile and surgical procedures or trauma can lead to severe hemorrhage and can be life threatening if not treated. Individuals with 1-5% normal VIII protein have moderate hemophilia and can be at risk of heavy bleeding after minor traumatic injury. If an individual affected with Hemophilia A have 5-40% normal factor VIII then they have mild hemophilia and they have to be careful with any surgery or dental procedure. Hemophilia B is similar to Hemophilia A, but instead of having deficient factor VIII protein an individual plagued with Hemophilia B have a deficient factor IX protein a serine proteases of the coagulation system (R. Jenkin, 41). Hemophilia C, the rarest Hemophilia, is more mild than the other two hemophilia’s and involves factor XL or plasma
Hemophilia, sometimes known as “bleeders’ disease” or “the love of blood”, is a genetic blood clotting disorder that causes abnormal, excessive bleeding. Approximately one in 10,000 males born in the US has hemophilia and it equally affects all races and socio-economic groups (Bellenir 96). A person with hemophilia, or a hemophiliac, has either an inactive or inadequate supply of one of several factors needed for blood to clot normally. The most common type of hemophilia is caused by the absence or malfunction of one of these proteins, called factor VIII (Griffiths, 2005). The result is increased bleeding after trauma and injury, or even spontaneous bleeding with no apparent cause. Depending on the level of these factors in the blood, hemophilia can be mild, moderate, or severe.
The second most common type of hemophilia is hemophilia B and is also known as factor IX deficiency, or the Christmas disease. It, like Hemophilia A, is an inherited disorder. It appears much less than Hemophilia A and occurs in “approximately 1 in 25,000 male births, and