Hemophilia Essay

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

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.

If a mother is recessive for hemophilia and passes her X chromosome to her son; that son will most likely have hemophilia. Meaning that the rates of hemophilia among males are more common than among females. Reason being is that while a female has two X chromosomes a male only has one. The only chances of a female being hemophilia is both X’s have that gene. If a male has hemophilia and reproduces his daughter will no doubt be at least a carrier for hemophilia. Hemophilia breaks into 3 categories severe, moderate, and mild. About 1% of everyone who has hemophilia will go through severe symptoms (internal bleeding, joint spontaneous bleeding etc.) Moderate is about 1-5 and mild is about the rest. Symptoms of hemophilia include cuts lasting longer, and wounds take longer to close. However in more severe cases, patients can have spontaneous internal bleeding in the joints. Without surgery and the proper procedures, this can lead to death. People who have hemophilia are usually diagnosed within the first year. Doctor’s test patience through taking a blood sample, and seeing how much of factor 8 or 9 there is. Doctor’s also see if there's any history of hemophilia in the

A large number of mutations for Hemophilia A have been detected and identified. The most common mutation found is the intron twenty-two inversion and intron one inversion of the Factor VIII gene. This mutation occurs in 40-50 percent of people with Hemophilia A. It is caused by the homologous recombination between copies of a DNA sequence. One copy is located on the intron 22 region of factor VIII and the other copies are distal to the factor VIII. Intron one of the factor VIII gene occurs when the factor VIII gene is split which results in the production of two chimeric mRNAs. One of the mRNA has have the exon of the factor VIII and the exons 2-6 on the exon gene of the VBP1 gene, which codes for the subunit of prefolding. The second mRNA has all exons except the last exon of the BRCC3 gene. Other patients that have Hemophilia A acquire the

“Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn 't clot normally.” (NIH, 2013) Hemophilia is a chromosome – linked bleeding disorder caused by

Hemophilia is a possible cause of unexpected bleeding during surgery. This paper will discuss important topics related to hemophilia, including pathology, risk factors, signs and symptoms, and treatment.

Symptoms of hemophilia that would require urgent action and would be considered emergencies could include some of the following: sudden pain, swelling, or warmth of the joints, extremely painful headache, vomiting, extreme fatigue, neck pain, and/or double vision. These symptoms would suggest that urgent action should be taken (Mayo Clinic, 2014).

Based on the information given, the child's probable diagnosis is Hemophilia. Hemophilia is a genetic disorder that prevents blood from clotting properly. Clotting helps stop bleeding after a cut or injury. Without clotting, a wound can bleed too much either internally or externally. (“Bleeding Disorders in Children,”n.d.) According to Griffin (Griffin, 2015) Hemophilia mostly affects boys (about one in every 5,000-10,000). Girls who inherit the gene rarely get the condition, but become carriers of the gene and may pass it on to their children.

Hematoma formation may occur when there is bleeding in the muscles, which can be mild or severe, that includes muscle hardening, tenderness, pain, and swelling. Nosebleeds or slight bleeding from the mouth may occur in which they are common. After a visit at the dentist office, minor bleeding is common, young children may have a trickle of blood from the gums when new teeth are coming in. Blood in the stool are signs that there is blood in the gastrointestinal tract. Bleeding from the urinary tract can lead to blood in the urine which is called hematuria. Intracranial hemorrhage is when there is blood seeping through the brain, following a bump on the head, and can lead to certain symptoms like nausea, vomiting, behavioral changes, clumsiness, vision problems, paralysis, lethargy, and can lead to death. Another characteristic of hemophilia is increased bleeding after surgery or

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 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 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