Introduction 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. Virtually all people who have hemophilia A or B are born with it. The majority of people with hemophilia have a family history (it is a hereditary disorder).
In as many as 30% of cases, there is no family history of hemophilia. In these cases, the mother may not be aware that she carries the gene for hemophilia, or a gene mutation may have occurred spontaneously. A long history Hemophilia was identified as early as biblical times. Doctors in medieval times were familiar with it as well. In 1803, a Philadelphia doctor published the first description of hemophilia in the United States. But it was not until 30 years later that hemophilia became widely recognized.
Hemophilia later developed a reputation as the ‘royal disease’ because it passed from Queen Victoria of England to her descendants throughout the royal houses of Europe. Who Gets Hemophilia? Hemophilia occurs when the gene to produce clotting factor does not work correctly. Without the proper amount of clotting factor, bleeding occurs easily. Hemophilia is an inherited disorder in about two thirds of the cases. About one third of the cases of hemophilia occur due to spontaneous changes in the gene or mutations. The presence of a mutated gene may not be noted until a woman with no family history of hemophilia has a son with the disorder. The gene for hemophilia is carried on the X chromosome.
The Essay on Hemophilia 2 Clotting Factor
In the human body, each cell contains 23 pairs of chromosomes, one of each pair inherited through the egg from the mother and the other from the sperm of the father. Of these chromosomes, those that determine sex are X and Y. Females have XX and males have XY. In addition to information concerning sex, the X chromosomes carry determinants for a number of other features of the body, including the ...
The gene for hemophilia is also recessive. This is why hemophilia is referred to as an X-linked recessive disorder. If there is not a normal gene present to offset the defective, recessive gene, the disorder will be present. Whether or not a child will have hemophilia or be a carrier for the disorder depends on the status of the mother and of the father. The figure below shows how this type of disorder is inherited. Males have an X chromosome and an Y chromosome.
The X chromosome comes from the mother and the Y chromosome comes from the father. If the mother has a defective gene, the son’s chance of having hemophilia is 50%, depending on which X chromosome is inherited. A son cannot inherit the disorder from his father, even if the father has hemophilia. Females have two X chromosomes. One X chromosome comes from the mother and one comes from the father. All daughters of men with hemophilia will be carriers. Carriers rarely have the disorder but are able to pass the defective gene to their offspring.
The daughter also has a 50% chance of becoming a carrier if the mother is a carrier, depending on which X chromosome is inherited. In most cases, one of the daughter’s two X chromosomes is normal. Most females with a gene for hemophilia do not have symptoms of the disorder because a normal gene offsets any problems caused by the one that is defective. In some cases, however, the normal gene cannot offset the problem completely and the female will have low factor levels. When factor levels are low, the female can show symptoms of hemophilia such as excessive menstrual bleeding and excessive bleeding after childbirth, surgery and dental work. Hemophilia occurs in about 1 of every 7,500 males. Of these, about 90% of cases are Factor VIII Deficiency (Hemophilia A) and 9% are Factor IX Deficiency (Hemophilia B).
The Essay on Types Of Anthrax Infected Factor Symptoms
1. The anthrax bacillus is considered the first 'germ' proved to cause human disease. In 2001, Anthrax was deliberately spread through the postal system by sending letters with powder containing anthrax. This caused 22 cases of anthrax infection. 2. Anthrax is a serious disease caused by Bacillus anthracis, a bacterium that forms spores. There are three types of anthrax: skin (cutaneous) lungs ( ...
About 1% of hemophilia cases is due to deficiencies of Factor XI, X, VII or V. What are the Symptoms of Hemophilia? Hemophilia is a disorder of the blood clotting system. Because blood does not clot when it should, patients experience frequent and excessive bleeding. The degree to which bleeding occurs depends in part on the severity of the disorder. Patients can have severe, moderate or mild hemophilia. A hallmark of severe hemophilia is spontaneous bleeding.
In these cases, bleeding occurs without any recognizable trauma. Bleeding can occur in any part of the body. However, spontaneous bleeds are unusual in the joints of the fingers, wrists, feet and spine. Spontaneous bleeds are most common in the knees, ankles, elbows and shoulders. Repeated bleeding into the joints is called hemarthrosis. Hemarthrosis usually begins after the child begins to walk.
As the bleeding begins, the person may experience a warmth or tingling in the joint. As bleeding progresses, there is usually a feeling of stiffness, fullness, and pain. The joint swells and may be warm and tender. Bleeding into the joint limits the ability to move the joint. If not treated, hemarthrosis can cause chronic joint problems. Severe hemophilia can cause bleeding from circumcision.
Bruising often occurs after injections in infants. As the child becomes more active, excessive bruising occurs. Excessive bleeding also occurs when teeth are pulled or other trauma occurs. Symptoms of moderate hemophilia are the same as those for severe hemophilia with one exception. Spontaneous bleeding is rare in moderate hemophilia. When bleeding occurs, the person is usually able to identify some trauma that caused the event. Patients with mild hemophilia have excessive bleeding with severe trauma or surgery.
However, these patients may not experience any other problems or symptoms of the disorder. Many patients with mild hemophilia may not realize they have the disorder until bleeding occurs due to a major event such as an accident or surgery. The difference between symptoms for Factor VIII Deficiency (Hemophilia A) and Factor IX Deficiency (Hemophilia B) is the degree of severity. Symptoms are often milder for Factor IX Deficiency, due in part to the severity of the disorder. Severe Factor IX Deficiency is less common. Many patients with Factor IX deficiency do not have symptoms until stressed by surgery or trauma.
The Essay on Hemophilia 2
... several days. As one with hemophilia grows, bleeding into his joints will occur more frequently. Early signs of bleeding are the reluctance to ... and require special freezing, or are "freeze dried" factor VIII and factor IX concentrates. These concentrates are made in large ... the limb. The child may become irritable as bleeding continues. When the symptoms are present, examination of the limb should ...
The goal of treatment for hemophilia is to prevent and/or reduce the frequency of symptoms. Increasing factor levels to at least 5% of normal can cause symptoms of severe hemophilia to improve to the level of moderate or even mild hemophilia. This can be achieved with regular preventive infusions of factor. More recent advances in hemophilia The most significant advances in hemophilia treatment have been made in the last four decades. Baxter Healthcare Corporation introduced the first commercially available plasma-derived factor concentrate in the mid-1960s. This was a major advancement over earlier formulations, which contained much lower concentrations of antihemophilic factor.
In the early 1970s, home treatment of hemophilia became widely available, offering people with hemophilia greater independence and reduced hospital stays. Today, r ….
