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1、 留学生活网 专业留学生essay代写网站Essay写作范文- Hereditary Spherocytosis遗传性球形红细胞增多症：遗传病的研究进展AbstractThis review is on the studies of several scientists whom completed research on the genetic disorder, spherocytosis. Based on several articles in the literature, it was learned that spherocytosis is an inherited anemi
2、a caused by the dysfunction of the cells cytoskeleton. These articles provide information of hereditary spherocytosis comprising of the disorder on the molecular level and how the patients diagnosis is concluded using laboratory testing. Patients can be found to be affected on a certain level rangin
3、g from mild to severe. They are then prescribed remedial medical attention pertaining to their level. The research showed that a form of response is to undergo a splenectomy which can ease a patients ailment, but has been found to not correct the life span of erythrocytes unlike speculation that it
4、did.Hereditary Spherocytosis: A Review on the Genetic DisorderIntroductionHereditary spherocytosis is an anemic disorder affecting the blood that causes erythrocytes to be produced as spheres while normal erythrocytes are shaped as concave disks. The spheroidal shape is caused by a loss of membrane
5、surface relative to intracellular volume (Gallagher 2005). Spherocytosis is genetically based, meaning that it can be passed down from either parent who already encompasses the disorder. This disorder can be found in all racial classifications but is more prevalent in Caucasians (Oliveira et.al 2012
6、). Spherocytosis in Northern Europe and North America have a 1 in 5000 births in reported incidences and is usually the cause of inherited chronic hemolysis (Huq et al., 2010 and Bolton-Maggs et al., 2004). In the reviewed literature, spherocytosis has been researched and discussed regarding various
7、 aspects of this disorder, including the functionality of erythrocytes and what occurs after diagnosis.Cellular Level of SpherocytosisIn 1871, hereditary spherocytosis was first explained and the first splenectomy was also performed shortly after (Bolton-Maggs et al., 2004). Between family members,
8、the expression of spherocytosis is somewhat similar but the degree of severity differs throughout. The cause of the irregular shape and lifespan of the erythrocytes is the defect of an element in the cytoskeleton which is made of proteins in which the vertical attachment of the proteins to the lipid
9、 bilayer membrane is affected and therefore it is weakened (Bolton-Maggs et al., 2004).Other elements that influence the shape of the cell includes problems with spectrin, ankyrin, band 3 and/or protein 4.2 and the severity of the disorder is influenced by how many of these proteins are affected (Bo
10、lton-Maggs et al., 2004). Sodium dodecyl sulfate-polyacrylamide gel electrophorese is used as to determine whether or not these proteins have deficiencies. The defects in the genes of spherocytosis are present in five genes in chromosomes 1, 8, 14, 15 and 17 (Oliveira et al., 2012). Dysfunctions of
11、these genes affect the membrane of the red blood cell which can threaten the cytoskeleton which is meant to maintain the form and elasticity of the cell. When the cytoskeleton is infringed upon, the red cell becomes abnormally shaped and does not live as long as a normal healthy cell (Oliveira et al
12、., 2012). According to the article, “Guidelines for diagnosis and management of hereditary spherocytosis”, a hundred and seventy-four individuals were recruited from a hundred and twenty-three families and spectrin-deficient pro-bands were a larger cause than any other protein defect in patients whe
13、n compared to parents who were seemingly regular.Diagnosis of SpherocytosisHereditary spherocytosis is usually diagnosed when the patient is a child who has a varying extent of anemia, jaundice, and splenomegaly (Bolton-Maggs et al., 2004). Family history is also very important when diagnosing becau
14、se in most cases seventy-five percent of patients will have a family history of the disorder (Gallagher 2010). There are different varieties at which hereditary spherocytosis affects people and treatments can sometimes require blood transfusions. Complications may develop which include severe anemia
15、 which may cause growth delay, deferred sexual maturation, tumors, and skin ulcers and many of these patients are transfusion dependent (Gallagher 2010).The patients that participated in the clinical study at the Pediatric Hematology Center of Hospital das Clnicas, Universidade Federal de Minas Gera
16、is in the journal, “Clinical course of 63 children with hereditary spherocytosis: a retrospective study”, were followed for about 19 years and had scheduled follow ups for every three months or in some cases more often if it was deemed necessary. They were diagnosed based upon their clinical history, physical examination and tests done in the laboratory and family histories were studied. Patients were classified as mild, m
