Hemophilia, also spelled as Haemophilia is a rare inherited genetic bleeding disorder. People with this condition or hemophiliacs doesn’t bleed any faster than normal, slowing down their clotting. This is because their blood lacks sufficient clotting proteins, which helps stop bleeding process following a blood draw, injury, or surgery. There are two major types of this disorder __ Hemophilia A, also known as classic hemophilia or factor VIII deficiency and Hemophilia B, also known as Christmas disease or factor IX deficiency. Severe cases of hemophilia include internal bleeding in organs, joints, muscles and even brain which could lead to acute complications. Milder forms of hemophilia does not necessary spontaneous bleeding and the condition …show more content…
Males receive X from the mother, Y from the father whereas females receives two Xs, one from each parent. Hemophilia is an X-linked or sex-linked recessive disorder where the faulty gene is located on the X chromosome. Therefore, the son inherits the defective gene from the mother and is likely to have the disease. Since the daughter inherits two Xs, it is not very likely for her to show the trait since the disorder is recessive but they will still be the carrier of hemophilia gene. In rare cases, some carriers can experience bleeding symptoms if their clotting factors are moderately decreased. In unusual situations, some people can develop hemophilia later in life which can be resolved through treatments. The affect group involves middle-aged or elderly people, or young women who have recently given birth or are in the later stages of …show more content…
Since the development of inhibitory antibodies to factor VIII is the most serious complication of replacement therapy in hemophilia A, activation of the innate immune system during exposure to this protein(in dexamethasone) contributes to prevent those inhibitors. Results shows that transient dexamethasone treatment during initial factor VIII exposure reduced the incidence of anti-factor VIII immunoglobulin G in both a conventional hemophilia A mouse and a hemophilia A mouse model. The mice that did not develop anti-factor VIII immunoglobulin G after initial exposure were less likely to develop a response after
Symptoms and Causes Thrombocytopenia leads to excessive or unexplained bruising, nose bleeds, and severe bleeding that does not stop immediately. This can cause internal bleeding and extends to severe brain bleeds.... ... middle of paper ... ... 2. 2-3 Cohen, R., Garcia, C.A., Mena, D., Castellanos, M., Wu, L.T. April 2012 -. “Case Review: Idiopathic Thrombocytopenia Purpura.”
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.
Hemophilia is a genetic bleeding disorder. People who have hemophilia have a deficiency or an absence of a coagulation protein. A blood clotting factor is deficient or absent. Bleeding is most often in joints, such as the knee, elbow, or ankle, but bleeding can occur anywhere in the body. People with hemophilia bleed longer, not faster.
“Immune Response: MedlinePlus Medical Encyclopedia.” National Library of Medicine - National Institutes of Health. Web. 18 Dec. 2011. .
Hemophilia is a rare bleeding disorder that slows the blood clotting process, which is not normal. Some people with Hemophilia may just have a little bit of “clotting factor” or no clotting factor at all (National Institute of Health [NIH], 2013). Clotting factor is a protein in blood that controls bleeding and they are needed the blood to clot normally. In order to help the blood clot, clotting factors work with “platelets” (National Institute of Health [NIH], 2013). Platelets are small blood cell fragments that form in the bone marrow, a tissue in the bones that is similar to a sponge. The functions of platelets have a very important role in blood clotting; the role of a platelet is to stick together (by the help of clotting factors) to block cuts, break on the carriers of blood (veins or arteries) throughout the body, and stop the bleeding when “blood vessels” (National Institutes of Health [NIH], 2013) are injured. Blood vessels are tube like structures carrying blood through the tissues and organs, like a vein, artery, or capillary. People with hemophilia do not have enough “clotting factor VIII or IX” (World Federation of Hemophilia [WFH], 2013) in their blood, which results to prolonged bleeding or oozing, meaning that bleeding can last longer (though, not faster) than usual after surgeries, accidents, or having teeth pulled out at the dentist. Clotting factor VIII, which can also be called as “anti-hemophilic factor” (AHF, for short) (Patient.co.uk, 2011), is a blood clotting protein that is necessary for humans to have. Clotting Factor IX is a protein that i...
Haemophilia is used to describe a collection of hereditary genetic diseases that affect a mammal’s body’s capability to control thrombogenesis. Thrombogenesis is the way in which blood clots which is an important role in haemostasis. Two common forms of haemophilia are A and B. (1) Someone with A (otherwise known as classic haemophilia), clotting factor VIII is does not exist enough or is entirely absent. A person with haemophilia B (otherwise known as Christmas disease), clotting factor does not exist enough or is also entirely absent. Those with the disorder do not bleed a lot they just simply bleed for a longer period of time. All people with haemophilia A or B are born with the disorder as it is a hereditary disorder and passed down through generations very few cases of haemophilia are not genetic and are therefore rendered a spontaneous gene mutation which is then passed down.
Hemophillia is a rare bleeding disorder in which the blood does not clot normally. Hemophillia is usually inherited and people born with it have little or no clotting factor (a protein needed for normal blood clotting). These proteins work together with platelets to help the blood clot. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels. Hemophillia usually occurs in males with about 1 in every 5 000 males being born with the disease each year. A hemophiliac does not bleed more intensely than a person without it but can bleed for a much longer time. In some severe cases, continuous bleeding occurs after minor trauma or can even happen spontaneously.They may also bleed inside their body(internally), especially in the knees, ankles, and elbows. The bleeding can damage organs and tissues and may be life threatening. There are two main types of hemophilia: A and B. People born with type A are missing or have low levels of clotting factor VIII (1 in 5 000 males). People born with type B are missing or have low levels of clotting factor IX (1 in 20 000 males). About 8 out of 10 people who have hemophillia have type A. The greatest concern for both types is deep internal bleeding and bleeding into joints. Hemophilia is a life long disease, but with proper treatment and self-care, most people maintain an active productive lifestyle.
When people are being made, they receive genes passed down from multiple generations. Many of these genes can benefit the child being born, or can kill it. Through Meiosis the offspring receive two sets of genes, one from each parent. In human embryos, the child receives 23 chromosomes from each parent, equaling the 46 chromosomes in a regular body cell of a human. Parents can pass down traits for blonde hair, orange hair, brown eyes, blue eyes, and even the height for the offspring. Generations before the offspring can have diseases passed down to the offspring that can harm it. Most of the time evolution chooses against a disease, washing it out of the chromosomes, but in some cases certain diseases are still carried. Hemochromatosis is one of those diseases.
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.
Fabry disease is a rare hereditary disorder that’s from buildup glycolipids called GL-3 in the body’s cells, tissue, or other organs. The damage to the cells, tissues, or organs can cause a wide range of mild to severe symptoms that can be life threatening. Signs and symptoms’ may be noticed in childhood or adolescence. Many patients are diagnosed in adulthood. The average aged to be diagnosed with Fabry disease is age 29. One or both parents can carry an abnormal gene that’s passed to their children. The abnormal gene is on the X-chromosomes. Females have 2 X-chromosomes one by each parents. Males have one chromosomes inherited from their mother and one Y-chromosome by the father. Males and Female children of an affected female have 50% chance of having the gene. If the father carries one the gene all girl children will inherit the gene and males won’t. There are no known predetermining factors of Fabry disease.
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.
Today i'm going to be talking about Hemophilia and the general overview of it. I will also talk about any potential cures. I will be talking about what Hempohilia can do to your body. I will also be talking about if theres a cure or just a treatment to make it less worse. I will also be talking about how people with Hemophilia deal with this disease. I will also explain how people will benefit from extended research on thi s topic. I’ll also talk about my personal opininon on this topic and what I think about it. So for my first question I’m explaining what the characteristics of Hemophilia are. The characteristics of Hemophilia are not very deadly but can be very annoying I’ll also explan the genetic causes of this disease.
Blood from an already immune person will be injected into another person, giving the recipient protective antibodies. Immune globulin will protect a person from exposure to hepatitis A for 2 weeks. (Center for Disease Control, 2016) Many complications can occur with a person infected with Hepatitis A. One complication is prolonged cholestasis. Cholestasis is absence or reduction in the flow of bile through the liver.
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)
Rodak, B. F., Fritsma, g. A., & Doig, K. (2007). Hematology: Clinical Principles and applications. St. louis: Saunders Elsevier.