Genetic Disorders: Hemophilia B

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

The Arab physician Albucasis, who lived in the 12th century, wrote of a family whose males died of bleeding after minor injuries. Then, in 1803, a Philadelphia physician named Dr. John Conrad Otto wrote an account of a hemorrhagic disposition existing in certain families '. He recognized that the condition was hereditary and affected males (Society). The diagnosis of hemophilia is actually quite simple. Blood labs are drawn if a doctor suspects their patient to have a bleeding disorder. Blood tests will indicate what percentage of clotting factors are present in the blood. There are three types of hemophilia.

There are two types of Hemophilia, type A and type B, Hemophilia A is associated with blood clots after injury or a type of surgery, Hemophilia A is a disease in which a type of protein that is used to stop clotting is changed or mutated. This all starts after the bleeding has begun, little molecules send out a signal for a protein called factor 12 to be activated, then this protein goes on to activate other proteins till the protein Fibrinogen is activated which stops the bleed and forms a stable clot, but, when Hemophilia is brought in, this can cause major problems. It occurs in the factor 8 gene. Hemophilia causes this gene to be mutated, which is located on the X chromosome. The instructions for making the gene are altered which makes the protein changed as well. In a minor case only a small part of

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

Hemophilia is a hereditary and genetic mutation blood disease that does not have the ability to form a blood clot or coagulate from a small injury. The word hemophilia comes from two Greek words: haima - meaning blood and philia meaning to love. In order for the blood to clot properly, the plasma proteins also called factors need to be present in the blood. When the body forms antibodies to the clotting factors in the blood, it will stop the clotting factors from working. There are 13 types of clotting factors and they involve platelets to help the blood coagulate. Platelets also known as thrombocytes are small blood cells that form in your bone marrow to prevent blood loss by initiating a blood clot.

Lastly hemophilia C is the rarest and occurs in 1 in 100,000 of the general population. Most people have the severe type of this disorder. Hemophilia doesn’t occur mainly to a specific race but mainly occurs in men because hemophilia is an X-linked disorder. To make a diagnosis doctors take a blood test to determine if blood is clotting correctly, if not doctors will do clotting factor tests, called factor assays to conclude the type and severity of hemophilia that the patient has. As of today there are no known cures for hemophilia yet, but there are some treatments available for the bleeding and symptoms of this mutation. The main treatment for the symptoms of hemophilia is injecting the clotting protein into the patient's vein, this is called replacement therapy, these injected proteins can be made from human blood, there is a small chance that a patient being treated with another humans blood can get an infectious disease. However to prevent getting that you can take the treatment that is not made from human blood, called recombinant clotting factors. This treatment can be easily used and stored at home and can take fifteen minutes to receive

Hemophilia A is distinguished by extreme bleeding into soft tissues of the body known as hematoma, and bleeding into joint spaces known as hemarthroses. Hemarthroses lead to severe condition known as hemarthropathy. Repeated episodes of hemarthroses are very common to this disease. The severity of hemophilia A symptoms is directly proportional to factor VIII blood level and is classified as mild, moderate and severe.

Hemophilia is a rare disorder when blood doesn't clot normally because it is short on sufficient blood-clotting proteins. Deep bleeding inside the body is big concern especially in the knees, ankles and elbows. The internal bleeding caused from this can damage the organs and tissues of the body and may be life threating. When a person without Hemophilia is injured, a system of procedures happens to make the blood turn from liquid to solid to clot the wound and make the blood flow stop. Platelets, which are cells found in the blood, combine together to form a clot at the site of bleeding. The platelets hold an enzyme that causes fibrinogen to change to fibrin which is a solid substance that doesn’t liquefy. The fibrin goes to the area of injury

Platelets disorders relate directly to how the platelets function where clotting factor deficiencies deal with the proteins in the blood that are used for controlling bleeding. Platelet disorders are identified based on the amount present and how they function. Idiopathic thrombocytopenic purpura is a platelet disorder where a person suffers from a low platelet count which causes them to easily bruise or bleed. This is due the immune system attacking platelets. Clotting factor deficiencies occur due to the body’s’ inability to make enough proteins to aid in clotting blood. These deficiencies are either due to hereditary or from some other medical disorder. Hemophilia is classified as a hereditary disorder because of a deficiency in one of 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.

Spontaneous bleeding from various regions of the body including the joints, mouth are the most common sign of both Hemophilia A and Hemophilia B. Extremely heavy or prolonged menstrual bleeding is a common sign in females, both carriers and active hemophiliacs alike. Some other visible signs are blood in the urine or stool, unusual bruising, the formation of a hematoma, seizures and paralysis due to bleeding in the brain, and frequent nosebleeds. Some common symptoms that hemophiliacs report are swelling, pain, and tightness in the joints around the ankles, knees, and elbows. The severity of the symptoms is dependent upon the amount of the coagulation factor present in the blood. The lower the amount found in the bloodstream, the higher the severity and the more frequent the need for extensive

Patient with severe and moderate haemophilia can be managed with prophylactic factor replacement or on-demand therapy whenever bleeding occurred. A large retrospective randomized study over four decades showed that primary prophylaxis initiated at early age before onset of recurrent bleeding episodes reduces incidence of haemophilic arthropathy and lead to normal life (2).

There are many tests that help diagnose this disorder in a person. One of those is a screening test. Another test is clotting factor tests. On a normal basis, hemophilia is found in your genes when you are born. This disease can be treated in different ways. In my research, I found that you can replace the clotting factors in your blood. You would need to replace them because hemophilia comes from deficiency in you clotting factors. This disorder can be found

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.

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