A Study On Alyscia And Devon Essay

There are two main types of thalassemia. The first one is Alpha thalassemia. This occurs when a gene or genes related to the alpha globin protein are missing or mutated. It happens mostly in Southeast Asia, the Middle East, China, and in those of African descent. If one gene is missing or damaged: Your red blood cells might be smaller than normal. You will have no symptoms and you will not need treatment. If two genes

SCDAAMI population includes all patients with SCD or trait from infancy to 21 year-old and their families.

Sickle cell anemia can cause numerous symptoms, which the severity of this can vary between individuals. Symptoms that might vary from person to person that change over time, include anemia, episodes of pain, frequent infections, delayed growth, vision disorder, acute chest syndrome, and more. Indeed, of each symptom; anemia, sickle cell breaks red blood cell faster and die living people without enough red blood cells. Sickle cell anemia usually dies in 10 to 20 days while normal live for about 120 days before it replaced. Episodes of pain is a major symptom of this disease and the most common reason for people to get hospitalization; Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to the chest,

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.

Signs and symptoms of sickle cell disease usually begin in early childhood. Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. Characteristic features of this disorder include a low number of red blood cells or anemia, repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications. Infections are common with sickle cell such as infections in the urine making it unclear and sometimes bloody. It can also cause pain in the joint. This pain is why most victims of sickle cell anemia say their bodys are always sore and uncomfortable. Lastly, people who have the disorder tend to be fatigued and majorly lazy do to the lack of energy due to their aching

This is a 3-years-old African American male, who presented to the Pediatric Comprehensive Hemoglobinopathy clinic at the University of Michigan C.S. Mott Children's Hospital on 01/25/2017 for a routine follow up visit accompanied by his father. M.H. was diagnosed with Homozygous SS Sickle Cell Disease since birth. Since, his last clinic visit on 7/28/2016, M.H. has been admitted for partial splenectomy in 8/23/2016. Then, in 12/23/2016 his parents brought him to the emergency department in henry ford hospital for mild rhinorrhea, occasional productive cough, temperature of 99 Fahrenheit and pain in his left hand. During

Symptoms usually do not occur until the age of four months (Yi-Bin Chen). When sickle cell anemia blocks the blood flow in the blood vessels, pain and other symptoms develop that can affects the whole body (Babcock Jillian). Over time, it can contribute to complications with the kidneys, spleen, brain, bones, and other organs. Most people with sickle cell anemia have painful episodes called crises (Yi-Bin Chen). Some symptoms of anemia include fatigue and weakness, shortness of breath and chest pains, nausea, vomiting and digestive upset (Babcock Jillian). In infants, symptoms do not usually appear until the late first year. Symptoms usually include fever, swelling of the hands and feet, pain in the chest, abdomen, limbs, and joints, as well

Individuals with SCD inherit the sickle globin gene (HbS) from one parent and a normal (HbA) from the other parent. The allele for individuals with a sickle cell trait would be HbAS or AS and HbSS for those with SCD (2010). When two individuals are carriers to the defective gene

Sickle cell anemia affects millions of people worldwide. Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. They don't last as long as normal, round red blood cells, which leads to anemia. Sickle cells contain abnormal hemoglobin that causes the cells to have a sickle shape. Sickle-shaped cells don’t move easily through your blood vessels. They’re stiff and sticky and tend to form clumps and get stuck in the blood vessels. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage. Sickle cell disease is caused by a mutation in the

Sickle cell anemia is an anemia that is inherited and mostly affects people whose heritage can be traced back to places where malaria was prevalent. There are approximately 100,000 Americans that have the disease and many more with the trait. Several of my family members are afflicted by this medical condition that causes red blood cells to take on an irregular shape.

Sickle cell anemia is a genetically transmitted disorder marked by episodes of painful crisis, severe hemolytic anemia, and increased susceptibility to infections. This disorder usually affects African American (Zelman, Tompary, Raymond, Holdaway, & Mulvihill, 2010) Since this disorder is inherited and affects African-American this puts Davon at a higher risk. Sickle cell anemia can be diagnosed by having a genetic testing and blood test. Some symptoms of this disorder are pain crisis, fatigue, splenic sequestration, bacterial infections, shortness of breath, and eye damages. Some treatments for sickle cell anemia are supportive therapy during the crisis, blood transfusions, and prevention of sickle cell crisis. Since this is an inherited disorder, there is no prevention. This blood disorder is usually diagnosed in childhood and persists throughout a person’s life ("Mayo Clinic", 2015).

MTNR1B locus variants that have been associated with T2D include rs1387153, rs2166706, rs2166706, rs10830962, rs4753426 (all in the 5’ promoter region), rs3781638, rs10830963 (in intron 1), and rs8192552 (in exon 1, resulting in a non-synonymous mutation G24E), all of which result in altered fasting plasma glucose (Prokopenko et al., 2009, Staiger et al., 2008, Lyssenko et al., 2009, Bouatia-Naji et al., 2009, Ronn et al., 2009, Sparso et al., 2009, Langenberg et al., 2009, Reiling et al., 2009, Chambers et al., 2009, Kelliny et al., 2009, Takeuchi et al., 2010, Andersson et al., 2010, Kim et al., 2011, Kan et al., 2010, Huopio et al., 2013, Song et al., 2011, Dietrich et al., 2011, Vlassi et al., 2012, Holzapfel et al., 2011) and rs1387153, rs2166706, and rs10830963 were directly associated with an elevated risk of T2D (Prokopenko et al., 2009, Lyssenko et al., 2009, Bouatia-Naji et al., 2009, Ronn et al., 2009, Sparso et al., 2009, Chambers et al., 2009, Takeuchi et al., 2010, Kim et al., 2011, Kan et al., 2010, (Mao et al., 2012) in both adults and children of different ethnicities. While the mechanisms are not completely understood, these polymorphisms may affect beta cell function in a number of ways, including altering glucose-stimulated insulin secretion, proinsulin conversion, incretin sensitivity and/or secretion (Mussig et al., 2010). The odds ratio for current or future development of T2D was moderate, similar to other genes associated

A 14 year old boy presented to the Accident and Emergency department of the Kingston Public Hospital with a history of acute left sided weakness. He was known to have sickle cell disease with the HbSS genotype. He had previously presented with a stroke and had residual right sided weakness. There was no history of headaches fever, vomiting, chest or joint pain. He was admitted to the medical ward where treatment was instituted. On admission he had a Glasgow Coma Score (GCS) of 15 with grade 2 power (MRC) in the upper limbs and grade 3 (MRC) in the lower limbs. Radiological investigations were

Even though Hb analysis using either gel electrophoresis, HPLC or CE is unable to detect a-thalassaemia trait, the tests are useful for the diagnosis of the more severe forms which are Hb H disease (3 a genes deleted, genotype a-/--) and Hb Bart’s hydrops fetalis (4 a genes deleted, genotype --/--). Hb electrophoresis will show the fast H and Barts band. Analysis using either HPLC or CE is able to detect the Hb H and Hb Barts. As for non-deletional a-globin variant cases such as heterozygous Hb CS, the gel electrophoresis and HPLC method always miss to identify these cases due to instability of its mRNA8. CE method showed a better detection of heterozygous Hb CS cases9.

Our study undelines the importance of a standardized protocol, based on some specific procedure of sample collection and storage, in order to have a successful biomarkers analysis. Moreover, it has been highlighted how MALTI TOF MS analysis of specific proteins could suggest the selection of the best pool of samples for a powerful biomarker study.