Brady Bistole Case Study Essay

Sickle Cell Anemia is a very serious disorder and people suffer from it every day. It is a genetic disorder that causes the hemoglobin in the red blood cell to distort and form into a sickle like shape. The name comes from the shape of the blood cell after it is mutated. A person who has sickle cell anemia got it from inheriting from the parents. It is the most common inherited disorder in the United States. It is also has four other names this disorder can go by HbS, Hemoglobin S Disease, SCD, and Sickle Cell .(https://ghr.nlm.nih.gov)the blood cell is formed wrong turning it into a sickle or crescent shape. Sickle cell is only a disorder. It can also be treated a lot of different ways.

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).

Sickle Cell Disease is an autosomal recessive genetic disease that occurs due to a mutation in the β-globin gene of hemoglobin. Autosomal meaning that it is not linked to a sex chromosome, so either parent can pass on the gene to their child. This mutation is a result of a single substitution of amino acids, Glutamic for Valine at position 6 of a β globin chain. The presence of this mutation causes

Sickle cell crisis is an acute form of sickle cell disease where pain and sickling are extensive (Byar, 2013). SCD is a genetic disease that predominantly affects black people of African decent (Gersten, 2016). Abnormal hemoglobin chains are the main issue with SCD (Byar, 2013). Normal hemoglobin chains are comprised of 99% hemoglobin A (HbA) however, in SCD an abnormal form of the gene, hemoglobin S (HbS) is present in approximately 40% of total hemoglobin (Byar, 2013). In order for a person to be born with SCD, both parents must carry the abnormal gene, HbS (Byar, 2013). HbS is extremely sensitive to the changes in oxygen amount of the RBC and when exposed to decreased oxygen the HbS cause the RBC to distort and become sickle-shaped,

This mutation paper is to give information on the Sickle Cell disease. This is a negative disease to have because the Sickle Cell Disease decreases the health of the person that has the disease and limits what they can and cannot do. Sickle Cell Disease is a red blood cell disease that causes ab normal hemoglobin to from in the veins. Hemoglobin is the protein that carries oxygen throughout the body to help with the respiratory system. The cause of the genetic mutation is inheritance or getting the disease from the parents the disease is found on chromosome 13 while the hemoglobin is still in beta phase on gene HB A. The disease typically shows symptoms within the first 5 to 6 months of birth and being diagnosed with Sickle Cell Disease. The symptoms include painful swelling on the hands and feet, and Jaundice, which causes a white color to form under the eyes, and turns the skin color yellow.

According to the 2016 edition of the Oxford dictionary, to define someone or a group of people as vulnerable means that they are susceptible to physical or emotional harm (Vulnerable, 2016). One of the most recognized populations of vulnerable people are children; furthermore, by adding an inherited disease process, that decreases the immune system, would only increase the vulnerability of the population. Children with sickle cell anemia are highly susceptible to being attacked both physically and emotionally by foreign invaders that threaten their already fragile immune systems. During the process of “making hemoglobin, which carries oxygen in our red blood cells, a defect can occur when the amino acid glutamate is replaced by valine. This simple substitution can cause the red blood cell to sometimes collapse, assuming the characteristic sickle shape. The red blood cells, normally very elastic and able to conform to the shape of tiny capillary blood vessels, become rigid and can block the blood vessels, depriving tissue of oxygen and resulting in severe pain” (Stone, 2015). Sickle cell children must endure an incredible amount of pain, many hospitalizations, a pain management regimen, and the inability to experience the normal, everyday life that most of their peers participate in each day. Health care for sickle cell children is focused toward management because there is no cure and as their bodies run out of healthy red blood

In this article, sickle cell anemia is defined as a hereditary disease that destroys red blood cells by causing them take on an elongated and rigid "sickle" shape. In addition, a different type of hemoglobin called Hemoglobin S, is the protein in red blood cells that carry oxygen throughout the body. This protein starts to wrap around other red blood cells when oxygen is lacking to form a helical shape. Once this happens the cells cluster together and elongate and the cells start to "sickle". A person who has sickle cell anemia can only get it if both of their parents carry the sickle cell trait, if only one parent has the trait then there children are at risk for having the trait.

Sickle cell disease (SCD) occurs in 1 out of every 365 African American births compared to 1 out of 16,000 Hispanic-American births (1). SCD is a group of red blood cell disorders in which patients have a sickle or moon-shaped red blood cell due to an abnormal S hemoglobin. While sickle cell disease is relatively rare in American births, this is an alarming statistic among people of Sub-Saharan (west and central) African descent. An interesting fact is that SCD occurs more often among people from parts of the world where malaria is or was common, such as Sub-Saharan Africa (1). In addition, it is believed that people who carry the sickle cell trait are less likely to have

Sammy Sickle is a 14-year-old boy who looks like a 6-year-old. He has a history of frequent episodes of sickle cell crisis, which have caused him to be very small in stature and weigh only 64 pounds. Sammy is the only member of his family to have this disease and it has not been present in any reported family history. Sammy has had frequent hospitalizations for sickle cell crises, and he should be in junior high school, but has missed so much school he is currently in grade four. Sammy estimates that he has received more than 30 units of blood and has had several transfusion reactions.

Sickle cell disease (SCD) is a destructive abnormality in red blood cells that results in circulatory impairment. Sickle cell disease can cause pain, infection, organ damage and strokes. SCD is inherited through the infants’ parental genes (James, 2014). For instance, if an infant inherits the gene from one parent that infant will automatically have the sickle cell trait. As a result, the infant will be a carrier of the disease but won’t actually have the SCD. It is very rare for a carrier to have any symptoms. Women who have SCD are considered high risk if they become pregnant. SCD poses complication for both mother and fetus during

As a genetics counsellor I will provide you and your family the necessary information and support regarding any health issues or concerns that you may have. I will provide you with a diagnosis of any genetic conditions and supportive advice and guidance to your concerns. I believe you two appear to be healthy, but are concerned about a disease that runs through one of your families, sickle cell anaemia. You are concerned about any future children that you may have as you do not want them to inherit the disease. To start, let’s go over what we know about the case so far.

The married couples I am counseling both carry the sickle cell trait. In sickle disease, the red blood cells are shaped like the letter C. The red blood cells are more likely to occlude blood flow by clogging the blood vessels due to its unusual shape. This can cause their future child to be in severe pain and a potential stroke. The married couple can have a prenatal test done to see if their unborn child inherited the disease. Chronic villus sampling and amniocentesis are the prenatal tests done to detect genetic disorder (Sickle cell Society, 2013). Their future child has a 50% chance of having the sickle cell trait, if both parents have the sickle cell trait. The future child has a 25% chance of having the sickle disease when both parents have sickle cell trait (Centers for Disease Control and Prevention, 2017).

Thousands of years ago, a genetic mutation occurred in people from the Mediterranean basin, India, Africa, and the Middle East. As the Malaria Epidemic attacked people of these countries, carriers of the defective hemoglobin gene survived. Carrying one defective gene means that a person has a sickle cell trait. Two parents with the trait will produce a child with sickle cell anemia. People of these countries migrated and spread to other areas. In the Western Hemisphere, where malaria is not much of a problem, having the abnormal hemoglobin gene has lost its advantage. Any child born from parents that each has the trait will be born with the disease.

HbSS) occurs when thymine is substituted for adenine at the sixth amino acid position of the β globin chain of the hemoglobin tetramer (2-α globin and 2-β globin chains) resulting in the production of valine (a hydrophobic amino acid) instead of glutamic acid, which is hydrophilic (12). Although all SCA patients share the same genetic mutation, the clinical course is highly variable between patients (13). The highest sickle cell trait (HbAS) carrier rate is present in families who trace their ancestry to malaria endemic regions (14). In addition to homozygous SCA, other sickle-related hemoglobinopathies occur when HbS is inherited in the heterozygous state with another β globin chain mutation (most commonly HbC, i.e. HbSC) or quantitative defects in β globin production (HbS0thalassaemia and HbS+thalassaemia). Both HbS0thalassaemia and HbSS are clinically severe, while patients with HbSC and HbS+thalassaemia generally have milder phenotypes. Approximately 1 in 500 African American infants born in the United States are affected by SCD (includes SCA and heterozygous sickle hemoglobinopathies), and it is estimated that nearly 100 000 SCD patients live in the United States

Sickle cell disease is considered to be one of the most common monogenic disorder globally. [1] Recent studies suggested that between 300.00- 400.00 new born with heamoglobinopathies each year in the developing countries .[2] it was reported that about 5 % of the world population are carriers for heamoglobinopathies (2.3 for sickle cell disease and 2.9% for thalassemias ). [3, 4] Heamoglobinopathies is one of the world’s major health problem with high mortality rate.[5] Several epidemiological studies show that Saudi Arabia has a relatively high prevalence of hereditary heamoglobinopathies .