Hemophilia--论文代写范文精选

51due论文代写网精选代写范文：“hemophilia ”血友病是什么?血友病是一种出血紊乱,血液凝结缓慢的疾病。严重的血友病,发生轻微外伤或即使无伤害也会连续出血或自发出血。其并发症会导致到关节,大脑或其他器官出血。论文讲的是一种血友病的概念，对血友病进行一些分析研究。

What is hemophilia?
Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.
The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.
How common is hemophilia?
The two major forms of hemophilia occur much more commonly in males than in females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide.
What genes are related to hemophilia?
Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. Coagulation factors are proteins that work together in the blood clotting process. After an injury, blood clots protect the body by sealing off damaged blood vessels and preventing excessive blood loss.
Mutations in the F8 or F9 gene lead to the production of an abnormal version of coagulation factor VIII or coagulation factor IX, or reduce the amount of one of these proteins. 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. These problems with blood clotting lead to continuous bleeding that can be difficult to control. The mutations that cause severe hemophilia almost completely eliminate the activity of coagulation factor VIII or coagulation factor IX. The mutations responsible for mild and moderate hemophilia reduce but do not eliminate the activity of one of these proteins.
Another form of the disorder, known as acquired hemophilia, is not caused by inherited gene mutations. This rare condition is characterized by abnormal bleeding into the skin, muscles, or other soft tissues, usually beginning in adulthood. Acquired hemophilia results when the body makes specialized proteins called autoantibodies that attack and disable coagulation factor VIII. The production of autoantibodies is sometimes associated with pregnancy, immune system disorders, cancer, or allergic reactions to certain drugs. In about half of cases, the cause of acquired hemophilia is unknown.
Read more about the F8 and F9 genes.
How do people inherit hemophilia?
Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, it is very rare for females to have hemophilia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carrier females have about half the usual amount of coagulation factor VIII or coagulation factor IX, which is generally enough for normal blood clotting. However, about 10 percent of carrier females have less than half the normal amount of one of these coagulation factors; these individuals are at risk for abnormal bleeding, particularly after an injury, surgery, or tooth extraction.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about hemophilia?
You may find the following resources about hemophilia helpful. These materials are written for the general public.
MedlinePlus - Health information (5 links)
Genetic and Rare Diseases Information CenterThis link leads to a site outside Genetics Home Reference. - Information about genetic conditions and rare diseases
Additional NIH Resources - National Institutes of Health (2 links)
Educational resources - Information pages (13 links)
Patient support - For patients and families (7 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Reviews - Clinical summary (2 links)
Genetic Testing Registry - Repository of genetic test information (4 links)
ClinicalTrials.govThis link leads to a site outside Genetics Home Reference. - Linking patients to medical research
PubMedThis link leads to a site outside Genetics Home Reference. - Recent literature
OMIM - Genetic disorder catalog (2 links)
What other names do people use for hemophilia?
Hemophilia, familial
Hemophilia, hereditary
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about hemophilia?
Ask the Genetic and Rare Diseases Information CenterThis link leads to a site outside Genetics Home Reference..
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
What does it mean if a disorder seems to run in my family?
What are the different ways in which a genetic condition can be inherited?
If a genetic disorder runs in my family, what are the chances that my children will have the condition?
Why are some genetic conditions more common in particular ethnic groups?
These links provide additional genetics resources that may be useful.
Genetics and Health
Resources for Patients and Families
Resources for Health Professionals
What glossary definitions help with understanding hemophilia?
blood clotting ; blood coagulation ; cancer ; carrier ; cell ; chromosome ; clotting ; coagulation ; coagulation factors ; deficiency ; familial ; gene ; hereditary ; immune system ; inheritance ; inherited ; injury ; mutation ; protein ; puberty ; recessive ; sex chromosomes ; spontaneous ; surgery ; trauma ; X-linked recessive
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

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