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Essay on therapies in hemophilia
Essay on therapies in hemophilia
Essay on therapies in hemophilia
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Hemophilia
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).
Hemophilia primarily affects males, and is present from birth. It is estimated that 20,000 cases have been identified in the United States. In most cases, hemophilia is usually passed down from the mother to son (“hemophilia” and the new book). A women who is carrying the hemophilia is usually referred as a “carrier”. For instance; If a women who is a carrier of the hemophilia gene has a daughter, that daughter has a 50% chance of being a carrier. If women who is a carrier of the hemophilia gene has a son, the son has a 50% chance of having hemophilia. A very daughter of a man with hemophilia will be a carrier (Obliogate carrier). If a man with hemophilia has a son, they will not be affected and will not have hemophilia. However, approximately 30% of those families affected by hemophilia have no previous family history of hemophilia and is considered a “spontaneous mutation” (“Hemophilia”2002).
There are degrees of severity to the amount of specific protein in the blood. Normal levels of the factor proteins measured in the lab range approximately 50%-150%. Severe Hemophiliacs have 1%-5% of the specific protein. Mild Hemophiliacs have >5%-49% of the specific protein. As expected, those with the severe hemophilia may have spontaneous bleeding as a well as bleeding with minor injuries and trauma. Those with moderate hemophilia will have bleeding with injuries or trauma but not likely to have spontaneous bleeding. Those with mild hemophilia may only experience bleeding after trauma or surgery (“Hemeophilia” 2002)
The most common sites for the person with hem...
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...ed before treatment can be offered to patients, there has been however a number of studies done in animals such as mice and dogs in which a factor VII or IX gene has been inserted and produced th eproper blood product for periods that exceed one year. Major issues that remain to be resolved include the low level of production of the clotting factor, reduction of immune reactions that stop the reproduction after a period, and development of ways to insert the gene directly into th ebody without manipulating cells outside the body (“Hemophilia”13 May 1996).
The expense, danger of indwelling catheters, and inconvenience of the treatment regimen are all negative factors. All of these issues will become less important, even irrelevant, if the disease can be cured. At the present time, there are sufficient indications that gene therapy will ultimately be this cure. The technology for gene therapy’s not as simple as was first thought. Yet because of tis special characteristics, hemophilia will likely be among the first genetic diseases to be successfully treated (“Hemophilia” 13 May 1996).
Citation
“Blood clot in vessey.” Adam. nrd. 26 Feb. 2004
“Children are our most valuable resource and are our future,” according to Herbert Hoover. In order to have children, we must have healthy mothers to bear and deliver those children. Pregnancy is, of course, a difficult time with physical changes and discomfort. However, sometimes pregnancy also brings life threatening physical changes for the mother. One of these is Thrombocytopenia, a disorder related to a low platelets count. It affects many women during the pregnancy. If not treated, it can cause preeclampsia and lead to death to the mother or fetus. Human reproduction is necessary for the continuation of the human race, but thrombocytopenia threatens the continued health of mothers. This makes thrombocytopenia very important and necessary disorder to study and investigate.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
In some individuals with severe hemophilia, the factor VIII replacement therapy is identified as a foreign substance by their immune system. If this happens, their immune system will make antibodies against factor VIII. These antibodies will inhibit the ability of the factor to work in the clotting process. The higher the antibody or inhibitor level, the more factor VIII replacement therapy it takes to overcome the inhibition and produce clotting. This can complicate the treatment of a bleed. The good news is that there are different types of therapies available to successfully treat most individuals who develop inhibitors.
In the early 1980s, most people with Hemophilia were injected with “HIV”, because the factors used for treatment were isolated from injected human plasma. Since then, “virus sterilizing techniques” and the use of “artificial factors” have greatly reduced this risk. Hemophilia A can also be known as classic Hemophilia (because it is more common) and factor VIII deficiency. Hemophilia B is also known as Christmas disease, and factor IX deficiency.
There have been four somewhat recent successful gene therapy treatments. The four deal with correcting hemophilia, bone marrow transplants, skin cancer, and vessel growth. In the success with the bone marrow transplants, French researchers collected bone marrow cells from patients, used gene therapy to correct the bone marrow, and then returned the bone marrow to the patient. This was 80% successful as reports 16 months after the transplants showed. Squamous cell carcinoma, skin cancer of the head and neck, was treated using gene therapy as well. The fourth trial was where DNA was used to carry a substance that stimulates blood vessel growth to damaged heart tissue and in this trial there was much success noted.
Different people define success in many different ways. What is considered success by one person may be viewed as failure by another person. Randy Shilts, a homosexual newspaper reporter / author, attempts to make fundamental changes in America’s opinion on AIDS. In Randy Shilts’s essay, "Talking AIDS to Death," he speaks of his experiences as an "AIDS celebrity." At the core of Shilts’s essay is the statement, "Never before have I succeeded so well; never before have I failed so miserably"(221). Shilts can see his accomplishments from two points of view- as a success and as a failure. Despite instant fame, Shilts is not satisfied with the effects his writings has on the general public. Shilts’s "success" and reasons for failure can both be considered when one decides whether or not his efforts were performed in vain.
Hepatitis is the inflammation or swelling of the liver. The inflammation can happen from different injuries or viral forms of a disease. People who experience hepatitis have the symptoms of malaise, nausea, vomiting, loss of appetite, fever and jaundice. There are six known forms of Hepatitis which are Hepatitis A, Hepatitis B, Hepatitis C, Hepatitis D, Hepatitis E and Hepatitis G. The presence of hepatitis in the body can be very risky and cause severe death if not taken care of. Hepatitis is a severe issue that affect many people around the world like third world countries and cross contamination can occur mainly in health care places due to the exposure of patients with the disease and accidents handling blood or instruments, Hepatitis A,B,C,D,E and G are distinct diseases that differ in transmission and vaccines to prevent them or cure them.
Hemophillia is caused by a defect in one of the genes that determines how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosomes. Females have two X chromosomes, while males have one X and one Y. Only the X chromosome carries the genes related to clotting factors. A male who has...
Tsar Nicholas II and his Tsarina, Empress Alexandra, had only one son, Tsarevich Alexei. However, Alexei had inherited from his great-grandmother Queen Victoria the life-threatening genetic disease hemophilia B, a sex-linked genetic disease on the X chromosome that caused a condition of deficiency in blood-clotting and excessive bleeding, symptoms that usually remain hidden unless contracted by a male (Fuhrmann 37; King 28). To Nicholas II, it was imperative that he have a son to succeed him to secure the throne. Alexei was Nicholas’s sole male heir, giving Nicholas the incentive to protect his son at all costs. Without a scientific cure for the genetic disease, Alexandra turned to religion, namely Grigori Rasputin, a poor uneducated Siberian peasant to protect her son.
Hemophilia is a serious genetic condition caused by a coagulation factor that causes a mutation in the f8 and f8 gene. Hemophilia can be treated but not cured. Further studies are currently being done today. Living with hemophilia can be very difficult .physical activity is not recommended for individuals living with this condition. Also surgery is highly dangerous because of the excessive bleeding. In society we have set backs but we have to learn to deal with them.
To conclude, although gene therapy can cure a wide variety of diseases which cannot be cured by traditional medicine, and patients can get permanent cure without rejections, it can be high-risk and immoral. The negative effects of gene therapy lead to the shrink of the number of volunteers, and many trials have been forced to cease. The Gene therapy's potential to revolutionize medicine in the future is exciting, and hopes are high for its role in curing and preventing childhood diseases.
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. (www.ncbi.nlm.nih.gov)
...matopoietic compartment using integrating vectors particularly need to understand genotoxicity risks in relation to the risks of conventional bone marrow transplantation. A QPL could direct them to ask questions about risk, benefits and survival rates following transplantation at local centres; the prognosis of patients in the different haematopoietic gene therapy trials; the number and status of patients that developed leukaemia in the SCID-X1 gene therapy trials; and whether there are any differences between the proposed vector and the vector used in the SCID-X1 trial and any possible safety developments. This kind of guidance may help patients understand both what is known and unknown about specific applications of gene therapy.
Gene therapy enables patients to survive incurable diseases. In the field of genetic diseases, ADA-SCID, CGD and hemophilia are three main ones. ADA-SCID is known as the bubble boy disease. CGD is related to immune system that would lead to fungal infections which are fatal. Patients with Hemophilia are not able to induce bold bleeding (Gene therapy for diseases, 2011). Gene therapy also has good effects on cancer treatment and neurodegenerative diseases, which include Parkinson’s disease and Huntington’s disease. Viral infections, including influenza, HIV and hepatitis can also be treats by it (Gene therapy for diseases, 2011). According to the Science Daily in 2011, gene therapy now can apply to heart failures and neurologic diseases as well.