5. Case studies Mutations are more common than we think. We see them everyday and fail to perceive them as mutations. For example, colour blindness is the result of gene mutations in men. The gene is only present on the X chromosome. Thus, only one X chromosome is needed to induce the condition. However in women, two affected X chromosome are needed for the gene to be expressed. Ten million men have colour blindness in America, while only 600,000 women have colour blindness. Sickle cell disease is an acquired blood issue that influences about 100,000 individuals in the United States. Red platelets contain hemoglobin, a protein that conveys oxygen in the blood. Ordinary red platelets are round and adaptable, which empowers them to go through little veins to convey oxygen to all parts of the body. Sickle cell anemia causes red platelets to frame into a bow shape, similar to a sickle. The sickle-formed red platelets break apart effortlessly, bringing about iron deficiency. Sickle red platelets live just 10-20 days rather than the typical 120 days. The harmed sickle red platelets bunch together and adhere to the dividers of veins, blocking blood stream. This can bring about …show more content…
The CCR5Δ32 mutation is where a certain protein that sits on the surface of one’s cells is missing a small segment. Because of this deletion, the HIV is unable to attach and enter one’s cells. Individuals with one copy of this gene are resistant to AIDS and those with two copies of this mutation are completely immune to HIV-1. This mutation also makes people resistant to plague and smallpox. However, since the normal version of this gene helps people resist infection by the West Nile virus, the same people who have resistance to HIV and AIDS are also have a higher risk of being infected by the West Nile virus and contracting encephalitis as a
Sickle Cell anemia is a type of anemia- A condition where there aren’t enough healthy blood cells to carry adequate amounts of oxygen throughout the body. It is also known as Sickle Cell Disease (SCD). Normally red blood cells (RBC(s)) have a round shape, making them very flexible and giving them the ability to travel through your veins easily. However, when a person has sickle cell anemia, red blood cells become rigid and develop a crescent-like shape. This shape makes it hard for blood cells to travel through the body’s tiny veins. Thus, the crescent-shaped cells often get stuck in tight spots of the body and result in serious blood clots.
Locate, cite (quote or paraphrase) and share a reliable information source(s) that discusses a degenerative disease experienced at a higher rate among Black/African Americans (vs. American majority statistics)
Sickle cell disease is an inherited form of anemia. This means both parents must pass on the defective gene for a child to be affected. The gene is more common in families that come from Saudi Arabia, Africa, Mediterranean countries, India, the Caribbean islands, and North, South, and Central America of African descent.
Sickle cell anaemia is a disorder affecting the red blood cells and up to 100,000 people are estimated to have the disease in the USA (Centre for Disease Control). Due to a genetic mutation in the gene responsible for the production of haemoglobin (MayoClinic, 2014) the red blood cells, which are usually a biconcave disk in shape, become sickle (bent) shaped (Figure 1) and the haemoglobin that the red blood cells contain is defective. Haemoglobin is a protein that carries oxygen (which has bind to the haemoglobin) around the body from the lungs after gas exchange. Having defective haemoglobin, as is the case with sickle cell anaemia, means
Sickle cell anemia mainly affects people with African, Mediterranean, Middle Eastern, and Indian ancestry. A person with sickle cell anemia inherits two sickle cell genes, one from each parent. It cause the red blood cells to change and become crescent shaped. Normal red blood cells are disk shaped and move easy through the blood vessels. The primary problem is hemoglobin, it is a protein molecule in red blood cells that carries oxygen from the lungs to the body’s tissues and returns carbon dioxide from the tissues to the lungs. In sickle cell anemia, the hemoglobin is flawed. The cells become sickle shaped and can’t move as easily through blood vessels. Sickle cell anemia has one main cause, in order for sickle cell anemia to happen, a sickle
The condition creates when Sickle-molded red platelets hinder move through minor vessels to the midsection, mid-region, joints, and once in a while bones, bringing on great torment and distress. Torment may change in force and can keep going for a couple of hours to a couple of weeks. Some individuals encounter just a couple of scenes of torment. Others encounter twelve or more emergencies a year. In the event that an emergency is serious enough, it may oblige hospitalization. A significant muddling of Sickle cell frailty is oxygen hardship in blood and organs.
CHIEF COMPLAINT: Stated by the father “M.H. keep complaining of earache and on and off fever”
Sickle cell disease (SCD), a genetic disorder, is an autosomal recessive disease (Brown, 2012). This means that two copies of the mutated gene, one from each parent, must be present for their child to develop the disease. If both parents have the sickle cell gene, there is a 50% chance that any one child will also have the sickle cell trait or gene. Also, if both parents have the sickle cell gene, any one of their children have a 25% of developing SCD. If only one parent has the disease, their children have a 50% chance of receiving the gene, but may never have the characteristics of the disease. The Center for Disease Control and Prevention (CDC, 2015), estimates that 90,000
In high-income countries like the United States, the life expectancy of a person with SCD is now about 40–60 years. In 1973, the average lifespan of a person with SCD in the United States was only 14 years. Advances in the diagnosis and care of SCD have made this improvement possible. Sickle Cell disease affects mostly African, Mediterranean and related ancestries it is passed on through generational traits and common related blood type. Sickle Cell disease is a disease that causes painful attacks called crises; which causes throbbing in their bones and backs. Sickle cell is caused by a protein that is abnormal called hemoglobin S which causes the shape of red blood cells to change into a sickle or crescent type shape. (George Buchanan, 2010) Cells in tissues need a steady supply of oxygen to work well. Normally, hemoglobin in red blood cells takes up oxygen in the lungs and carries it to all the tissues of the body. Red blood cells that contain normal hemoglobin are disc shaped (like a doughnut without a hole). This shape allows the cells to be flexible so that they can move through large and small blood vessels to deliver oxygen. Sickle hemoglobin is not like normal hemoglobin. Sickle-shaped cells are not flexible and can stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can’t reach nearby
Sickle cell disease, SCD, is an inherited autosomal recessive genetic disorder that affects 1 in 500 Americans of West African descent with one in 12 African Americans and one in 100 Hispanics being carriers (“Learning.” 2014). SCD is prevalent in individuals with origins in equatorial countries, such as central Africa, Near East, Mediterranean area, and in parts of India (McCance, 2010). Sickle cell anemia, sickle cell-thalassemia, and sickle cell-Hb C are all forms of sickle cell disease with sickle cell anemia being the most severe. Within the general population there is a 0.7% chance of two African American parents having a child with sickle cell anemia, a 1 in 800 birth risk for sickle cell-Hb C, and 1 in 1700 birth risk for sickle- cell thalassemia (2010). The incidence of sickle cell trait carriers can range from 7% to 13% in blacks and up to 45% in people from Eastern Africa. In comparison to the other forms of SCD, sickle cell anemia is present in a homozygous form. Individuals are considered to be sickle cell trait carriers when they inherit Hb S from one parent and normal hemoglobin from the other parent, these individuals rarely present with any clinical manifestations (2010).
I was born like this, since one like this Immaculate Conception. I transform like this, perform like this, was Yeshua’s new weapon.” are just a sample of the lyrical genius Kendrick Lamar depicts in his new hit, DNA. The greatest thing about that line is it maximizes the personification of sickle cell anemia. An inherited disease that one is born with and passed down through generations by means genetic recombination almost immaculately as the odds of receiving it are against you. Red blood cells in a sense transform from oval to crescent moon shaped being the basis of the performance in Yeshua’s weapon of death. I think Kendrick hit the nail on the head with this one.
With people who have sickle cell disease they have two abnormal hemoglobin genes (NIH, n.d.). A person can be a carrier of the sickle cells gene but not have the disease. If someone has the trait mates with someone else who carries the trait their off spring will have a 25% chance of having sickle cell disease, 50% chance of being a carrier of the gene but not having the disease, and a 25% chance of not being a carrier of the mutated gene. The two abnormal hemoglobin cells are called hemoglobin S (NIH, n.d.). The defect of the gene is in the beta globin part of the hemoglobin which changes the way hemoglobin works (NIH, n.d.). Normal red blood cells are disk shaped but with Sickle cell disease the red blood cells can be rod shaped, crescent shaped, or sickle shaped making it difficult for the cell to travel throughout the body and they get stuck to vessel walls and blocks or slows the flow of blood (Ignatavicius, D., & Workman, M., 2013). When the sickle cells stick and slow or block the blood flow oxygen cannot reach the tissue and this can cause severe pain and result in a crisis (Ignatavicius, D., & Workman, M., 2013). The poor oxygen delivery over time can cause organ damage (Ignatavicius, D., & Workman, M., 2013). Sickle cells do not change shape easily and unlike a normal red blood cell that lives approximately 90 to 120 day sickle cells only live about 10 to 20 days
Sickle cell disease affects approximately 100,000 Americans and millions across the globe (Sobota, 2015). The three most common types of sickle cell disease are Hb SS (sickle cell anemia), Hb SC, and Hb S beta thalassemia, with Hb SS being the most common type (Harris, 2001). Sickle cell disease occurs in individuals who inherit the mutated hemoglobin gene, from one or both of their parents. The mutated hemoglobin, known as Hb S, crystalizes and join together “into many small cords, which form chains that look like twisted wires” (Harris, 2001, p. 20). Stretched to contain the Hb S crystals, the red blood cells take on spike and sickle shapes; this is how the name for the disease came about (Harris, 2001). Deformed, the sickled cells have a hard time moving through the blood stream and can eventually pile up in the blood vessels, having life-threatening consequences. Although oxygen can reverse the sickling process in cells, turning Hb S back into a liquid, after a few sicklings the red blood cells’ membrane is permanently damaged and the cell will remain sickled.
In the ER, I have an African American female patient, age 32, who presents with sickle cell anemia. She has come into the emergency room with 2-day history of heart palpitations, headache, dyspnea, fatigue, and back pain. She states her appetite has decreased. She states that she is voiding well and having regular bowel movements. The backache extends from above the lower T-spine to the lumbosacral spine. The patient is allergic to codeine but states she is able to take morphine. She is currently taking folic acid and Tylenol. She has had no previous surgeries and denies any smoking or drug use. Upon examination, her vitals were the following; a temp of 38 degrees tympanic, pulse was 105 BPM indicating tachycardia and blood pressure is 115/50
CVA related to Sickle Anemia (SCA) with crisis is the primary admitting diagnosis for a 45 year old Hispanic client with a history of DM type 2, HTN, CHF and sickle cell anemia who came to the emergency room after waking up to left sided weakness, blurry vision, and occipital headache, with SOB and chest pain upon waking at 0430 am. SCA is a genetic disorder that causes a malformation of the hemoglobin cells that are attached to the red blood cells causing a decrease in the cell oxygen carrying capacity. Hemoglobin in itself is a protein that binds iron and oxygen to the cells and because the shape of the SCA cells are deformed; the surface area for bonding is decreased therefore the name sickle cell is characteristic of its formed shape.