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Hemophilia research paper intro
Hemophilia research paper intro
Hemophilia research paper intro
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Hemophilia is a disease found in two forms, A and B. They are both caused by lack of a blood clotting factor, eight and nine respectively. I chose this disease because of a podcast I listen to. The podcast was about Grigori Rasputin, a “faith healer” who took care of the youngest child, Alexei Nikolaevich, of Emperor Nicholas II and Empress Alexandra Feodorovna who had Hemophilia. Hemophilia is a disease with a sex-linked pattern of inheritance. It is carried on the X chromosome and is inherited repressively. Males inherit one x chromosome from their mother and a y chromosome from their father. In the case of females, one x from mom and the other from their father. If a son inherits an x chromosome that carries hemophilia from his mother, …show more content…
The most common treatment is the use of a concentrated Factor Eight product. “The main medication to treat hemophilia A is concentrated FVIII product, called clotting factor or simply factor. Recombinant factor products, which are are developed in a lab through the use of DNA technology, , preclude the use of human-derived pools of donor-sourced plasma.” (Hemophilia A) Using products created from donations of others and new technology, Hemophilia is able to be treated more efficiently. The factor gets injected straight into the veins or through a chest port. These are the safest forms of …show more content…
Starting with the background, it notes that in the 1940's two concepts were formed. The first was that there are two types, A and B. The second discovery being that blood from one Hemophiliac could normalize blood from another. Shortly after these discoveries the three categories were classified: moderate, mild, and severe. It goes on to state that in some cases, a random mutation may occur causing the disease. This can result in a child with the disease with no family history of it. If a person with the disease is untreated in their early life, lifelong disabilities may
Three hundred and thirty-four years later in the future, Carl Landsteiner, a Viennese doctor, performed a very simple experiment with blood in 1901. During his experiment, Landsteiner noticed "clotting in some samples of mixed blood and not others". (Tucker, 10) Landsteiner separated his samples into three groups: A, B, and C, according to how they clotted in his experiment. Today, the blood type C is known as type O blood. When Landsteiner was grouping these blood types, he happened to look over type AB. AB occurs in about 3 percent of the population. Later in 1907, two researchers, Jan Jansky in Czechoslovakia and William Lorenzo Moss in the United
The mindset of every living organism is to survive and reproduce. As such, it may be surprising to hear that diseases actually plays a crucial role in the survival of our predecessors. In the book Survival of the Sickest, Dr. Sharon Moalem discusses the role these hereditary disorders played in keeping our very ancestors alive. Three examples mentioned in the reading selection include hemochromatosis, diabetes, as well as favism. All the diseases I mentioned had a specific aspect, to which I found particularly appealing. In the case of hemochromatosis, I found it intriguing how the author used his own life to draw a connection between the two traits. Dr. Sharon Moalem lost his grandfather to hemochromatosis and later was diagnosed with the
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)
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
The cryoprecipitate is used for patients who don’t have enough or are unable to produce sufficient fibrinogen and clotting factor VIII. The FFP and cryoprecipitate can both be used for patients who have had a liver transplants and trauma cases in which the patients has clotting problems. The other products such as the immunoglobulin are used for fighting diseases because of the antibodies in the plasma. The anti-D is used in pregnancies in case of an RhD incompatibility between the baby and the mother; this stops the mother creating antibodies against the baby. The albumin and the clotting factors are used for patients who have a deficiency of these proteins.
Rasputin’s loyalty to the czar and his family made him “immune” to the attempts of exile from Russia (DISCovering). Aleksey Nickolayevich was a hemophiliac (Rasputin). On one certain occasion, doctors were called in to check on the young heir. After nothing seemed to help, “Grigory Rasputin, who was reported to have miraculous powers of faith healing, was brought to Alexandra” (Massie 259). Rasputin didn’t cure Aleksey of hemophilia, but his ability to control the symptoms was “indisputable” (Fuhrmann 26). “In December 1916, a group of conservative aristocrats laced Rasputin’s wine with potassium cyanide at a soiree in the Yousoupov Palace” (DISCovering). The poison wasn’t strong enough to kill Rasputin. He was shot once, “lurched” at his attackers and they shot him again (DISCovering).
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 later developed a reputation as the "royal disease" because it passed from Queen Victoria of England to her descendants throughout the royal houses of Europe. About eighty percent of all cases of hemophilia have an identifiable family history of the disease; in other instances, it may be attributable to a spontaneous mutation. Researchers recently discovered that the spontaneous mutation of the factor VIII gene in two children was due to the attachment of a foreign "jumping gene" that disrupted the blood-clotting ability of the factor VIII gene. Inheritance is controlled by a recessive sex-linked factor carried by the mother on the X chromosome. A probability of one in two exists that each boy born to a normal male and a carrier female will be hemophiliac and the same chance that each girl of this union will be a carrier.
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.
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
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.
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.
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.
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.