Hemophilia Description

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

Valentino, L.A. "Multicentre, Randomized, Open-label Study of On-demand Treatment with Two Prophylaxis Regimens of Recombinant Coagulation Factor IX in Haemophilia B Subjects." Haemophilia. John Wiley & Sons Ltd, 13 Jan. 2014. Web. 29 Aug. 2015. .

Hemophilia, once called the royal disease is a problem with the clotting of blood. When a cut or bruise occurs it can bleed causing problems with people who suffer from hemophilia. Patients with hemophilia will continually bleed longer than a normal individual. This bleeding can lead to harmful levels of blood loss to internal bleeding. Hemophilia is very rare occurring once every five thousand people. Rare, however it is the most common x linked trait. When an injury occurs, blood cells called platelets plug the wound. Then fibrins seal it up. Hemophilia splits into two groups hemophilia A and hemophilia B. People who have hemophilia A have low levels of blood clotting factor 8. Hemophilia B patients have low levels of blood clotting factor

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

The severity of symptoms does not depend on the type of VWD a patient has; although, the intensity of signs does vary from person to person (Introduction). The most common sign of this disease, excessive or abnormal bleeding, is often overlooked as a symptom. Abnormal bleeding consists of: blood in urine or stool, bleeding from shaving with a razor or a comparable injury, frequent and lengthy nosebleeds, bleeding from the gums, increased menstrual flow, and excessive bleeding from a cut or following a tooth extraction or other dental procedures. Severe enough bleeding can threaten a patient’s life if doctors can control the blood loss. Though rare, internal organs and joint damage can occur from serious bleeding (Facts about). Some patients may not realize their condition until experiencing excessive bleeding after a surgical procedure or serious trauma. Another sign, frequent and easy bruising, can come from minor bumps or injuries. These bruises may develop small lumps under the skin. More severe symptoms include spontaneous bleeding in both soft tissue and joints. Signs in women and men

Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the resulting protein(s).” (U.S National Library of Medicine, 2016) The protein associated with the scenario is the factor VIII gene. The factor VIII gene presents instructions for making a protein called coagulation factor VIII. In response to injury, coagulation factor VIII is activated and separates from von Willebrand factor (vWF). The active protein interacts with another coagulation factor called Factor IX, and as a result, this interaction releases a chain of chemical reactions that form blood clots. “The altered or missing protein cannot participate effectively in the blood clotting process. As a result, blood clots cannot form properly in response to injury.” (F8, 2016) These issues with blood clotting may lead to serious bleeding which could be difficult to stop. In order for the blood clot to be produced to assist aiding the injury, it is in need of both factors to interact with each other. Having the deletion mutation process taken place, Danielle’s factor VIII gene was removed and as a result, she was found to be a carrier of Haemophilia.

Hemophilia A is classified as a hereditary blood disorder (NCBI, 2011), and is caused by a lack of blood clotting protein, known as factor VIII (NCBI, 2011). The specific gene that codes for factor VIII is known as the HEMA gene (NCBI, 2011). Factor VIII is mainly synthesized in the liver (NCBI, 2011). Any lack of factor VIII

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:

Since hemophilia involves excessive bleeding, it is important to treat right away. The main method of treatment is known as “replacement therapy.” Depending on the type of hemophilia one has (A or B), either coagulation factor VIII or IX would be dripped into the vein to replace deficient or mutated factors. These

Currently there is no cure for hemophilia. But with clotting factor infusions and inclusion in support groups, most patients live full and relatively healthy lives. Scientist are always looking for a new cure according to La Kelley Communications (LA Kelley Communications, n.d), and they believe the answer lies in gene therapy. Potential treatment includes taking genes with the correct directions for making clotting factors and inserting them into the cells of a person with hemophilia. Scientists believe the new gene will give the correct directions to the body to start producing high levels of clotting factors, causing the person with hemophilia to develop successful blood

Hemarthrosis is a characteristic of hemophilia symptom which is more severe when the knees and ankles are mostly affected. The bleeding will cause swelling of the joint spaces, sometimes one particular joint, called a target joint, that will tend to bleed most often, significant pain in joints and over time, the joints can be disfiguring.

Family history of this disorder will help to determine the necessary diagnostic testing needed. “A clotting test, called an assay, will determine the type of hemophilia and its severity” (National Hemophilia Foundation, n.d., para. 10). A clotting test will require blood to be drawn and sent to the lab for analysis. Treatments for hemophilia include medications that help replace deficit or missing clotting proteins. “The main medication to treat hemophilia is concentrated FVIII product, called clotting factor or simply factor” (National Hemophilia Foundation, n.d, para. 11). The medications are usually introduced intravenously in the arm or a port in the chest (National Hemophilia Foundation, n.d., para. 12). It may take a little tampering with certain medications by a physician to find the right medication and dose for each individual. In additions, mild hemophiliacs may be prescribed desmopressin acetate, a natural antidiuretic hormone that stops bleeding; which can be used for joint and muscle bleeds (National Hemophilia Foundation, n.d., para. 14). Severe hemophiliacs may be recommended a prophylactic regimen to help maintain an appropriate level of clotting factor in their blood in order to prevent bleeds (National Hemophilia Foundation, n.d., para. 13). Patients with mild hemophilia can lead a normal life with the right treatments and precautions, however

Baxter Healthcare Corporation (Baxter) has developed a coagulation factor IX recombinant drug product named RIXUBIS, which is intended for the treatment and prevention of bleeding episodes, routine prophylaxis, and perioperative management of haemophilia B patients. Baxter’s recombinant coagulation factor IX is a glycoprotein secreted by genetically engineered mammalian cells derived from a Chinese hamster ovary (CHO) cell line.

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.