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Research paper on how understanding dna advances medicine
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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.
Hemochromatosis, originating in people of Western European descent, is a disease that is still carried in the chromosomes of humans. Hemochromatosis is a hereditary disease that disrupts the way the body metabolizes iron. (Moalem, 2) A person who has hemochromatosis absorbs abundant amounts of iron. While mistaking the body for not having enough iron, it absorbs more that it needs, which causes piles of iron to form in the joints, muscles, and major organs. This buildup can cause liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders, and cancer. When discovered by Armand Trousseau in 1865, it was looked at as extremely rare. (Doctors Lounge, post) Later on in history, it was discovered that many people with western European descent either carried or expressed the hemochromatosis gene. Statistics show 1 in 4 people with western descent carry the gene for hemochromatosis, but only 200 people of western European descent express the gene. (Mo...
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.... People with hemochromatosis don’t get diseases like malaria either because their immune system is strong enough to withstand the bacteria. The human genes have kept hemochromatosis because although it can kill you over time, it can protect you from fast killing bacteria and from sicknesses that normal people can die from. Hemochromatosis has been passed down through parent genes and about 25% of western European descent people carry the gene.
Hemochromatosis although can be fatal also can be helpful in fighting disease. Dr. Sharon Moalem studied patients and the diseases reoccurring symptoms to come to a realization that although it’s harmful it’s staying in our genes because we might need it. Decades ago the Europeans needed it to fight the bubonic plaque and it kept some alive. Our chromosomes keep this because it’s easy to treat and can have many benefits.
...hich inherited traits, such as those for genetic disease, can be tracked over generations. Throughout out the course of human development, scientists will continue to find new new ways to help the human race through the discovery of the human gene inside of each of us, its uses, as well as complications, that can help the survival of our species.
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
On a normal person, you have 23 pairs of chromosomes. In each pair, 1 gene comes from the mother, and 1 gene comes from the father. This is how things get passed down from parents to children (like eye color, height, skin tone etc...).
Every one in two thousand people are diagnosed with hereditary spherocytosis. This rare blood disorder is of the Northern European ancestry. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown (Government). This disease should be detected in early childhood, but in some rare cases it can go undetected for years or never be detected at all. Hereditary spherocytosis not only affects the red blood cells but the spleen as well. It only takes one abnormal gene for a child to have the disease for the rest of his or her life. The disease is a reoccurring cycle, and this rare blood disorder is rare to the minds that do not have the disease, and to the minds that have not studied the disease. Although there is no definite cure a splenectomy will help maintain the disease. The million dollar question is “What is hereditary spherocytosis and is there a cure?”
In the continent Africa, about 1 in 100 individuals develops this disease. We ask ourselves why is the frequency of a potentially fatal disease so much higher in Africa? The answer is related to another deadly disease, which is called malaria. Chills, fever, vomiting, and severe headaches characterize malaria (GENETICS Sickle Cell Case Study. (n.d.). 2000, October 19). Malaria is caused by a disgusting parasite called Plasmodium that is transmitted to humans by mosquitos. When the malaria parasites invade the bloodstream, the red blood cells that contain defective hemoglobin get sickle cell out and die (Facts About Sickle Cell Disease. 2014, January 16). This helps protect the individual with Sickle Cell Anemia from an infection of malaria. As you can see, this is why a variety of areas in the world has a high rate of malaria, such as
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.
Thalassemia is an inherited blood disorder characterized by low amounts of hemoglobin and a low count of erythrocytes in the body. Thalassemia is caused by mutations in the deoxyribonucleic acid of cells, which makes hemoglobin. The mutations are passed from parent to child. The mutations vary depending on the type of Thalassemia inherited. The variation in the mutation occurs from the number of gene mutations, which are inherited, as well as mutation within the hemoglobin molecule. Clinical manifestations are diverse ranging from asymptomatic, to those who are carriers of the thalassemia, which may have mild symptoms, there also people who posses the trait, who may have severe symptoms which lead to death.
During a short break of solitude from studying, I explored and came across that the environment in which most African Americans reside in has a high occurrence of malaria virus. The malaria virus disease is contagious and when it contaminates someone with sickle cell traits, it cannot survive on the external part of the human body so therefore the individual doesn’t develop the deadly malaria virus. While looking further into our class textbook on Human Genetics 11th Edition by Ricki Lewis, and this issue of sickle-cell among the African Americans, I
Sickle cell anemia is a hereditary disorder that mostly affects people of African ancestry, but also occurs in other ethnic groups, including people who are of Mediterranean and Middle Eastern descent. More than 70,000 Americans have sickle cell anemia. And about 2 million Americans - and one in 12 African Americans - have sickle cell trait (this means they carry one gene for the disease, but do not have the disease itself).
A famous carrier of Hemophilia was Queen Victoria. One of her sons, Leopold had Hemophilia and two of her daughters, Alice and Beatrice were carriers. Royalty would marry into other royal families. Therefore Hemophilia continued to be passed down the royal tree giving Hemophilia the nickname as the ‘Royal Disease’. One of the following generations being affected was Alexei, the son of Alexandra and Nicholas the Czar of Russia. Alexei inherited the disease from his mother who was a carrier. Queen Victoria was the maternal grandmother of Alexandra. The ‘Royal Disease’ was was continuing to greatly affect the royals. After doctors were not able to do anything to help Alexei, his mother turned to Rasputin for help. Raspu...
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.
Long Term Care and Hemorrhoids Hemorrhoids are not something most people want to talk about. Even so, they are very common. In fact, in America, well over half of men and women 50 years of age and older suffer from hemorrhoids on a regular basis. While hemorrhoids are often painful, they are very rarely dangerous. Hemorrhoids are really just veins that are swollen in or around the anus or rectum.
In conclusion, we can say Thalassemia is a hereditary disease, not a virally transmitted infection. Family history has lot to do with gene mutations. Everyone is all born with 4 genes, two from each parent. The type of genes inherited determines the severity of the disease. Likewise, the treatments depend on the strength of the diseases. Although not easily curable, the disease is treatable. More research is being done for cures and scientists are advancing in discovering safe options to limit Thalassemia during pregnancy. Some parts of the world are more prone to these diseases. Overall, Thalassemia is a disease caused by abnormalities in hemoglobin, but it is simply another challenge science will learn to overcome.
in Hematology on a regular basis, but there were still things I learned by going through
Thalassemia cannot be prevented most of the time since it is passed down through families.