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Sickle cell disease genetic essay
Sickle cell anemia
Sickle cell disease genetic essay
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Sickle Cell Disease is inherited from parent to offspring. In the last counseling session, I mentioned that the disease is caused by the mutation in chromosome 11. This mutation does not occur randomly. The mutation first occurred thousands of years ago, and ever since then, the select few offsprings of the person that first received the mutation have inherited the mutated gene (controls inherited traits). Sickle Cell Disease is a recessive disease, which means that a person only inherits the disease if both the genes in the genotype are recessive. To explain further, a genotype is a two letter code used to show the genes an organism has for a trait (for example: RR, Rr, or rr). Each letter represents a version of a gene, or an allele. There are two variations of alleles for a trait - a dominant allele and a recessive allele. Capital letters represent dominant alleles and lowercase letters represent recessive alleles. Dominant versions of a gene for a trait will always be present in one’s physical appearance, or phenotype, even if there is only one dominant allele in a person’s genotype. However, there has to be two recessive alleles in a person’s genotype for a person to have the recessive version of the gene …show more content…
Kevin had sent an email regarding his family history. It was really confusing, but putting it in a pedigree made it much simpler (in the next slide). To determine one’s genotype using pedigrees, a person has to know that an offspring inherits one gene from each parent. For example, if the father has the genotype ss, for the trait of having Sickle Cell Disease, and the mother has the genotype SS, the offspring will inherit a dominant allele (from the mother) and a recessive allele (from the father) - the offspring’s genotype will be Ss. Like this, an entire pedigree can be solved. However, sometimes, not enough information is given to figure out the genotype of a
3. Possible genotypes... Aunt 1 X --X, Aunt #2 X-- X, Aunt Dee X-- X, Michalla X-- X, Augusto X-- Y and Lorenzo X-- Y
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
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.
1. Sickle Cell Disease is life-threatening and has a risk of of causing depression. In this study I examine the experiences that Sickle Cell patients go through specifically at emergency healthcare facilities to find out if there are any negative stigmatizations surrounding this disease. There may be judgments that are made about these patients from healthcare professionals when they seek drugs for their pain relief that may cause the stigmatization to occur. I will also investigate why individuals that have Sickle Cell Disease experience longer waiting times at emergency healthcare facilities and the lack of control they may have over their care regime.
What is Sickle cell disease? Sickle cell affects a disease; that disease is called which affects the hemoglobin when the red blood cells that send oxygen through the body are killed off and weakened. Sickle cells can be found in every 1 and 1000 African Americans, it is affecting about 70,000 to 80,000 Americans in the United States. Sickle cell is a death threatening disease, and the severity of symptoms can vary from person to person (Sickle cell disease (SCD), 2015). Some people have light conditions, but others can have severe conditions, which, mean they could be hospitalized. Characteristics of this disease are caused by a minimum of low blood cells, which is called anemia.
Genetic Family History Assessment All nurses, no matter where they practice, need to have proper training in genomics and genetics to provide the best information to clients regarding recognition, prevention, and/or treatment of diseases (Thompson & Brooks, 2011). Genetic family history can help clients discover the unique patterns of health and illness within their family. In this paper, I will complete a Genetic/Genomic Nursing Assessment using the information found in Kaakinen, Coehlo, Steele, Tabacco, & Hanson’s text (2015) in Box 7-7 (p. 198). I will identify three generations of a family, analyze the genetic health risks, and consider nursing strategies for this family. The woman featured in my genetic assessment will be referred to as LG.
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.
A genetic family history assessment contains information about family structure and relationships. A typical nurse will use a three-generation family pedigree to gather the information. By doing so, nurses can be aware of which family members are at risk for disorders from a genetic component. Therefore, they can be provided with lifestyle advice, recommendations, and referrals to appropriate specialists (Kaakinen, Coehlo, Steele, Tabacco & Hanson, 2015). A genetic family history assessment will be provided about my family.
If one wanted to know their chance of carrying or having the disease creating a punnet square could help determine that. A normal person without Albinism or the presence of the allele melanin can be represented by capital “A” and another allele that represents the lack of melanin will be represented with lower case “a”. Since Albinism is an autonomic recessive disease, this means a person with a homozygous recessive gene will have the disease. Both parents must be heterozygous dominant and carry the allele; they will have a 25% chance of having a child with albinism and a 70% chance of having a child carrying the disease. If one parent is heterozygous that still carries the flawed gene and the other parent is homozygous dominant there will be a 50% chance their child will carry the disease but wont have a child with Albinism.
Sickle cell anemia occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. Instead of being flexible and round, these cells are more rigid and curved in the shape of the farm tool known as a sickle - that's where the disease gets its name. The shape is similar to a crescent moon.
Family history possesses valuable information about a person’s past and future life. It can be used as a powerful screening tool to help conduct decisions about genetic testing for you and family members at risk. Family history can identify potential health problems that an individual has an increased risk for in their lifetime. With early identification, you can begin taking steps to reduce the risk with things such as lifestyle changes of diet and exercise. In many cases, just by adopting a healthier lifestyle can reduce your risk for diseases that run in your family.
Having an inherited disease like sickle cell anemia takes a life-long of treatments and preventions of complications that comes with being diagnosed with sickle cell anemia. Many people have lived a long time while dealing with the disease because of the on-going care being provided to keep patients as healthy as possible. Knowing that both male and female have the sickle cell trait can prevent having a child with the sickle cell disease. From the help of the parents, doctors and medicine, sickle cell patients don’t have to deal with the pressure of living with a life threatening disease.
In the photo above is a family with very good genetics and we can see tha...
This disorder is caused by changes in the DNA of cells that make hemoglobin, the substance in human red blood cells that carries oxygen throughout your entire body. This disease is a inheritance disorder passed from parents to children. When parents have low count of hemoglobin and high could of red blood cell it is then transferred to their new born child.
...ary part in genotypes of potential interest that human geneticists breeders, as well as evolutionary geneticists are investigating. However, although we have the capability to unravel experiments that the founders of quantitative genetics would have never imagined, but their basic, un-computational machinery that they developed is most easily adaptable to the latest analyses that will be needed. We are far from ‘letting-go’ molecular biologists from the mathematical techniques/systems, because this age in respect to genomics has been forced into accepting gratitude due to the major importance of quantitative methods as opposed to the new molecular genetics. As geneticists tend to map molecular variation as well as genomic data, quantitative genetics will be moving to the front position because of its relevance in this age of rapid advancement in molecular genetics.