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hereditary spherocytosis eassy
hereditary spherocytosis eassy
hereditary spherocytosis eassy
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This 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 anemia caused by the dysfunction of the cell’s cytoskeleton. These articles provide information of hereditary spherocytosis comprising of the disorder on the molecular level and how the patient’s diagnosis is concluded using laboratory testing. Patients can be found to be affected on a certain level ranging 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 patient’s ailment, but has been found to not correct the life span of erythrocytes unlike speculation that it did.
Hereditary Spherocytosis: A Review on the Genetic Disorder
Hereditary spherocytosis is an anemic disorder affecting the blood that causes erythrocytes to be produced as spheres while normal erythrocytes are shaped as concave disks. 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). 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 aspects of this disorder, including the functionality of erythrocytes and what occurs after diagnosis.
In the journal, “Guidelines for diagnosis and manag...
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...do not show any consistency of the degree of spherocytosis expression. The red blood cell life span was averaged at about ninety-six days when normal life span is about one hundred twenty-three days (Chapman 1968). The range of life span between the patients ranged from seventy-six to one hundred eighteen days. From these results it is inferred that splenectomy does not repair red blood cell life span.
Hereditary spherocytosis is often identified in a patient’s childhood or early adult life, although, spherocytosis can be diagnosed at any age conditional to the entirety. This molecular disorder impacts their quality of life regarding aspects of treatment, finances, stress and recovery. As discoveries are made in this area of research, individuals will have a greater knowledge of spherocytosis and advancement in the treatment of this disorder including more options.
Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
Hereditary spherocytosis is a disorder in the membrane of a red blood cell that causes the red blood cell to be shaped like spheres, instead of flat discs (Wint Carmella). When red blood cells start out they are shaped like flat discs. Over time when passing through the spleen pieces of the membrane are removed, causing the red blood cells to become round in shape, hence the term Spherocytosis (Seattle Childrens). When red blood cells enter the spleen the cells undergo hemolysis. Hemolysis in hereditary spherocytosis results in the interplay of an intact spleen and an intrinsic membrane protein defect (Medscape). The breakdown of red blood cells is called hemolytic anemia (Wint Carmella). A normal red blood cell can live up to one hundred and twenty days. A red blood cell with the membrane defect might live ten to thirty days. When the child d...
The spleen is a fist-sized, spongy organ located behind the stomach (removed in this illustration), just under the diaphragm. Part of the lymphatic system, the spleen is composed of two types of tissue. White pulp produces lymphocytes, which release antibodies into the bloodstream to combat infection. More prominent is the red pulp, in which macrophages filter broken cells, parasites, bile pigments, and other useless substances from the blood. Iron from broken red blood cells is stored in the spleen for later use. Despite this variety of functions, an injured or diseased spleen can be removed in adults without great consequence.
Sickle-cell anemia is a genetic disorder that makes your body produce red blood cells that are abnormal in shape. This disease is also widely known as hemoglobin SS disease. Unlike normal red blood cells, sickle cells are rigid and tenacious. Due to their shape and rigidness, they can block blood flow. In turn, this could cause organ damage to the body. Sickle cells are also fragile and die very easily due to the fact sickle cells have a lifespan of twenty days instead of the normal one hundred and twenty days for normal red blood cells.This causes the body to have a lower blood cell count, hence the name anemia in sickle cell anemia.
The hereditary risk factors for cardiovascular disease are primarily those of which individuals are unable to control, the ones for which they are born with. These risk factors would include an individual’s sex, race, age, and genetics. One out of every five males has some form of cardiovascular disease and the same applies for females. More women than men have cardiovascular disease in this country, but this is only due to the fact that there are more women within the U.S. population (Weiss and Lonnquist, 2011). Men percentage wise are at a higher risk than women. There is a somewhat reduced probability for females to have cardiovascular disease before menopause. This is believed by medical researchers and scientists to be directly related to the natural hor...
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.
The spleen, an organ on the left side of the abdomen across from the liver, is responsible for filtering the blood for infections and other abnormalities.
Sickle cell anemia is a blood disorder that is inherited from both parents in which the body produces abnormally shaped red blood cells. In sickle cell anemia, the hemoglobin in red blood cells links together; resulting in the red blood cells to become rigid and a C-shaped. These deformed cells block blood and oxygen flow in blood vessels. Sickle cells deteriorate quicker than normal red blood cells, which results in anemia.
Sickle Cell Anemia is an inherited blood disorder that is extremely challenging to live with. Its symptoms are many, with the most prominent being severe pain that can become unbearable to the point where hospitalization is required. Because sickle cell is a genetic disorder, a person is born with it and it is usually permanent. Unfortunately, there are risks and complications associated with this disease. However there are various treatment options for a patient with sickle cell and also support to help people understand and cope with this challenging disease.
Unfortunately this disease is passed down from the parent to the child genetically. “If both parents have sickle cell trait (each have one normal hemoglobin gene and one sickle cell gene), the child has a 50% chance of inheriting sickle cell trait (one normal gene, one sickle cell gene), 25% chance of inheriting sickle cell disease (two sickle cell genes), and 25% chance of not inheriting either the trait or the disease (two normal genes) (Harvey)”.
...BeAg), bilirubin level, and platelet count (Pyrsopoulos and Reddy). The disease prognosis can be done by calculating the prognostic index based on the status of these six variables.
Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.
As a result the supply of red blood cells (the most used blood component) barely serves the growing demand.
Genetics & Personalized Medicine. (2013). University of Ottawa Heart Institute. Retrieved on February 3, 2014 from: http://www.ottawaheart.ca/research_discovery/genetics-personalized-medicine.htm
Sickle cell anemia is a devastating illness that affects people of all ages. Although the the life expectancy of people with sickle cell anemia is shorter than most, most people are now able to survive into their 40's. The most common causes for death are bacterial infections, organ failure or stroke (Lerma). All of the symptoms have methods in which they can be managed, but there is no cure to this disease. The best way to avoid sickle cell disease to prevent the disease. Using genetic counseling the chances of having sickle cell disease can be reduced.