Develop a one page paper (250 words) addressing all of the points below. If you
ID: 269530 • Letter: D
Question
Develop a one page paper (250 words) addressing all of the points below. If you have any questions about this assignment please let me know.
We will be learning about genetic disorders in unit 4 of the course. Do you know anyone with a genetic disorder? If yes name the disorder and conduct some research to help you describe the disorder. If your answer is no pick a genetic disorder to research. In either case make sure that you list the website you used to help you research the genetic disorder. If you knew that you or your family carried a gene which could possible lead to a genetic disorder would you still have children? Why or why not?
Explanation / Answer
Q) A Genetic disorder is a genetic problem which occurs by one or more abnormalities in the genome. These disorders are usually present since birth (called congenital). Most genetic disorders are rare affecting a single person in a large population.
Example of a Genetic disorder is - Sickle cell anemia, it is an autosomal recessive disorder , occurring in Beta gene in chromosome-11. When there is a mutation in the haemoglobin, it produces another form of Hemoglobin called Haemoglobin-S, In this state the RBC becomes sickle shaped and are not able to carry sufficient oxygen throughout the body. In this condition,RBC becomes rigid and sticky and are converted to a sickle shape. These irregularly shaped cells get stucked in small blood vessels like in eyes, causing flow of blood slow, blocks inhibiting the blood flow and oxygen transport to different body parts.
Sickle cell anemia has no cure. Sickle cells easily break and die, leaving the cell without much RBC .RBC's normal longevity is 120 days but in sickle cell it is 10-20days due to less longevity of RBC.as a result there is shortage of RBC leading to anemia in the patient.
When sickle-shaped red blood cells block blood flow in small blood vessels to chest, abdomen and joints, a pain develops. There is swelling in legs and hands due to the blockage by sickle cel. Sickle cells can damage the organs, which fights infection (like spleen) due to this the person becomes more prone to infections. Doctors usually give infants and children with sickle cell anemia vacciness and antibiotics to prevent the related infections, like pneumonia.
RBC supplies oxygen and nutrients to different growing parts of body, but sickle cell anemia inhibits it slowing the growth process and causing delay puberty in teenagers.
Eyes are supplied with tiny blood vessels , Due to sickle cell anemia they get blocked, causing damage to retina.
Sickle cell disease is a group of disorders affecting the haemoglobin,It is called haemoglobin S, it can destroy the red blood cells converting into a sickle shape. symptoms of sickle cell disease mostly begins in early childhood.
Symptoms of sickle cell- These are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, leading to anemia. Anemia causes shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of RBC may cause yellowing of the eyes and skin. These are signs of jaundice. In this condition, the tissues are deprived tissues and organs of oxygen-rich blood and may lead to organ damage, mainly in the lungs, kidneys, spleen, and brain. A serious complication of sickle cell is high blood pressure in the blood vessels which supply the lungs (pulmonary hypertension). Pulmonary hypertension takes place, in around one-third of adults having sickle cell disease and can lead to heart failure.
Sickle cell disease is the most common inherited blood disorder in the United States.The Life expectancy for sickle cell patients in the U.S. is less than 50 years.
A person who has only one sickle cell gene is healthy and is a carrier of the disease.
So in this, where the sickle-cell anemia , gene is present, in family there is less chance of inhheritance because to express the disease the person requires two copies of the allele, that is contain one gene from father and one from mother, a person having a single gene for sickle cell anemia (or autosomal recessive disorder) can be a carrier. Usually this do not occur, The person can go to have children. Because usually the genetic disoders are rare in nature.
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