Sickle cell disease (SCD) is one of the most common human genetic disorders. SCD is a pleiotropic genetic disorder, meaning that one mutation affects a wide variety of physical characteristics (15). currently affects 90,000 Americans and over 275,000 newborn infants annually worldwide (8). The average life expectancy has been calculated to be about 53 and 58 years for men and women respectively (10). The term Sickle cell disease actually refers to all of the various mutagenic genotypes that cause the various clinical manifestations otherwise known as a syndrome (1). In this condition, hemoglobin proteins of erythrocytic blood cells are misshapen, so the oxygen carrying capability is affected (2). SCD was first described by the physician James …show more content…
Normal erythrocytes are very elastic and spherical in shape, which aids them in traveling through narrow blood vessels, such as capillaries. The structure of hemoglobin also aids in the ability to effectively carry four molecules of oxygen. However, the sickling of HbS hemoglobin causes the cells to stiffen and become sticky (14). The change in shape causes issues with the ability to carry oxygen in hemoglobin and it also causes erythrocytes to clog capillaries at times (14). Due to the shape of the erythrocytes, they also are destroyed quicker than normal red blood cells (14). Normal erythrocytes are able to operate within the body for 90 to 120 days, but sickled red bloods cells only last 10 to 20 days (14). This issue is what causes sickle cell …show more content…
A barrage of testing is then needed, including: CBC, MCV, and reticulocyte count (5). Further genetic testing can reveal the exact genotype, such as hemoglobin electrophoresis and high performance liquid chromatography (5). Following precautions should be taken in newly diagnosed SCD patients, usually newborns; including: regular immunizations, antibiotic prophylaxis (protection prior to infection onset), and family education (5). It is recommended that all sicknesses experienced be treated aggressively due to the nature of recurrent infections and comorbidities suffered by these patients (5).
Currently, the best treatment available for sickle cell disease is observation through regular testing and then management of the associated symptoms (1). Hydroxyurea is a medication that helps prevent sickle cell crisis and reduces the number of need blood transfuses is those with HbS mutation (7). This therapy works by interfering with the polymerization process during formation of the defect hemoglobin S protein (7). Supplementation with multi-vitamins and folic acid are also recommended in these patients due to the associated iron deficiencies
However with septic shock the symptoms may be worse as the patient may experience tachyeordia and tachypnae, leucocytosis which is a high count of white blood cells, change in metal state for example confusion and hyperglycaemia which is a deficiency of glucose in the bloodstream. The diagnosis for sepsis and septic shock involve using blood cultures which is where bacteria is detected in blood which may have spread from a different part of the body. Blood cultures are taken mostly to be done on new-borns and young children who have the symptoms of sepsis. If the blood culture tests positive there is a bacterial or fungal infection which needs to be treated immediately as it is life-threatening. Also cytokines are used as they can destroy the infection however there is a problem with this diagnosis as excessive production can cause tissue and organ
At this point, the sepsis bundle order set will be initiated. Within one hour the physician will perform an assessment, laboratory will draw labs and blood cultures, the assigned nurse will initiate fluid resuscitation, and broad spectrum antibiotics will be administered after the cultures are collected. Figure 1 provides a detailed summary of tasks to be completed within the first hour of SIRS indicator identification. Within three hours, fluid resuscitation will be completed, lactate levels are remeasured, and the assigned nurse documents volume status. Within six hours, vasopressors are initiated if hypotension is not responding to initial fluid resuscitation, and hydrocortisone is administered if indicated. A “Gold Alert” was required for the case patient as evidenced by elevated temperature of 38.3oC and white blood cell count of 23,200
Renal and hepatic function tests include creatinine test, blood urea nitrogen (BUN) test, alkaline phosphatase (ALP) test, bilirubin test, and others. Urinalysis includes urine osmolality tests and urine culture tests. The sooner one’s sepsis is diagnosed and managed, the better the chances are one has to survive. There are three identifiable stages of sepsis. The three stages are, in order, sepsis, severe sepsis, and septic shock. The stage of sepsis is achieved when an infection enters the bloodstream and enacts inflammatory responses throughout the body. This stage is not as life threatening as the next two stages but should be assessed and treated for as soon as possible. The stage of severe sepsis is achieved when an infection disrupts the flow of blood to the brain or renal organs resulting towards organ failure. There can be an occurrence of gangrene in the arms, legs, fingers, and toes exhibiting tissue death caused by blood clots. If treatment is not given quickly in this stage then septic shock is bound to occur. The stage of septic shock is achieved when the overall blood pressure drops drastically leading to respiratory, cardiac, or organ failure and likely death This stage demands
...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
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.
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.
Scientists are constantly researching ways to help people with sickle cell anemia. Several recent drugs on the market, such as hydroxyurea, have helped reduce painful crises and episodes of acute chest syndrome in adults with the condition. These drugs have also decreased the need for hospitalization. Scientists are also testing these and other drugs to see if they work for kids and teens. In rare cases, people with severe sickle cell anemia may be given a bone marrow transplant to help them produce healthy hemoglobin.
Sickle cell anemia is the most common in hemoglobin mutation diseases due to mutation to beta-blobin gene. The substitution of valine for glutamate at position 6 of the beta chains paces a nonpolar residue on the outside of hemoglobin S. the oxygen affinity and allosteric properties of hemoglubin are virtually unaffected by this changes. However, this alternation markedly reduces the solubility of the deoxygenated but not the oxygenated form of hemoglobin. Thus, sicking occurs when there is a high concentration of the deoxygenated form of hemoglobin.
Diagnostic testing done/ continued testing/procedures (following your interview, place an * by those your child
Sickle Cell Anemia is caused by a change in the chemical composition of the protein hemoglobin which is responsible for delivering oxygen throughout our bodies. Normal hemoglobin is found as a round shape, and is composed of four proteins – two alpha chains and two beta chains. The change that causes Sickle Cell Anemia occurs when an amino acid called valine is substituted for glutamic acid in both of the beta chains. This change in the composure of hemoglobin causes the shape to change when under certain conditions. Two of these conditions are low oxygen and dehydration. The hemoglobin of a person with Sickle Cell Anemia then becomes elongated and curved, hence the name sickle cell. When this happens many problems can occur, primarily blood clotting which leads to a lack of oxygen in body tissues. Other negative affects of Sickle Cell Anemia are a weakened heart because it is constantly overworked. Also, bone marrow is affected and bones become softer than usual. While there is no cure for Sickle Cell Anemia there is treatment. The primary goal is to reduce the frequency of the Sickle Cell Anemia crisis episodes and maintain enough red blood cells to keep body tissues healthy.
Jason, this is a good topic to research. As a nurse on a Medical/Surgical unit, the unit cares for
Sickle cell anemia is an inherited blood disorder that affects the hemoglobin responsible for carrying oxygen throughout the body. (Centers for Disease Control and Prevention, 2010). This means that, unlike normal hemoglobin in which cells are smooth and round like the letter "O," that can pass through the vessels in our bodies with ease, sickle hemoglobin cells are rigid and form into the shape of a sickle, or the letter "C." The cells are also sticky and hence, cannot travel through small blood vessels. Consequently, they tend to cluster together and cause a blockage in the blood vessels and stop the movement of healthy oxygen-carrying blood.
Sickle cell anemia is a genetically linked disorder were the red blood cells do not form properly and may cause problems due to their abnormal shape. The symptoms for sickle cell anemia is similar to other types of anemia, which may include lethargy, shortness of breath during light exercise, or dizziness and lightheadedness when active. Additionally, sickle cell sufferers may form dangerous blood clots in their veins. Although blood clots in remain in the circulatory system without causing problems for years, the blood clot may one day block a major artery in the heart or brain, which may lead to permanent organ damage or death. Fortunately, sickle cell can be tested for and does not need to be diagnosed by its symptoms. The best test for
Sickle Cell Disease,SCD, is when a person’s hemoglobin, located in red blood cells, is affected by the Sickle Cell disease causing it to change the red blood cell into a crescent or sickle shape. The hemoglobin is the part of your red blood cell that uses proteins to transport oxygen through your body. Sickle cell disease is caused by a mutation on the 11th chromosome which affects your hemoglobin. People who have this disease have hemoglobins that are considered “hemoglobin S”. When you have the Sickle cell disease it means that you have inherited two abnormal hemoglobin genes, meaning each parent has passed down one abnormal hemoglobin gene to you. When a person only has inherited only one of the two abnormal hemoglobins then it
GSD I is an inherited autosomal recessive disorder with the incidence being 1 in 100,000. Parents may be heterozygote carriers, making them asymptomatic, however they have a 25% chance of having a child that is affected by GSD I. Prenatal diagnosis can be made by completing a liver biopsy at 18-22 weeks but no fetal treatments are currently available and standard newborn screening tests are not able to detect GSD I.