Every one in two thousand people are diagnosed with hereditary spherocytosis. This rare blood disorder is of the Northern European ancestry. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown (Government). This disease should be detected in early childhood, but in some rare cases it can go undetected for years or never be detected at all. Hereditary spherocytosis not only affects the red blood cells but the spleen as well. It only takes one abnormal gene for a child to have the disease for the rest of his or her life. The disease is a reoccurring cycle, and this rare blood disorder is rare to the minds that do not have the disease, and to the minds that have not studied the disease. Although there is no definite cure a splenectomy will help maintain the disease. The million dollar question is “What is hereditary spherocytosis and is there a cure?”
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...
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...oms that come along with it. There is a possibility that the disease will be transmitted to the offspring of the infected person. Having a splenectmomy conducted will not cure the disease it will only make it go into remission.
Works Cited
Gonzales Gus. “Hereditary Spherocytosis.” http://emedicine.medscape.com/article/206107- overview. January 10, 2012. November 19, 2013 http://grh.nlm.nih.gov/condition/hereditary-spherocytosis/. Hereditary Spherocytosis.
November 18, 2013 http://www.seattlechildrens.org/medical-conditions/heart-blood-conditions/hereditary -spherocytosis-symptoms/. Hereditary Spherocytosis. November 18, 2013
Tim Kenney. "http://www.patient,co.uk/health/hereditary-spherocytosis. htm#.21/02.12.
November 14, 2013
Wint Carmella. "Hereditary Spherocytosis." http://www/healthline.com/health/congenital
-spherocytic-anemia. November 12, 2013
Originally thought to be an obscure illness, it was later identified as the most common genetic disorder for those with a Western European background. However, due to its low penetrance rate, only one out of two hundred are said to have the condition. Hemochromatosis is treated by the practice of bloodletting. It is one of the oldest treatments recorded in history, with its earliest records dating as far back as 3000 years ago in ancient Egypt. Routinely bleeding is beneficial as it not only reduces the iron in the bloodstream, but also combats issues such as heart disease and high blood
Credibility statement: I may not look like an expert of any sort, but I have personally seen how this disease takes over the body in my own grand-mother.
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.
What is Myotonic Dystrophy?. Genetics Home Reference. November 2006. US National Library of Medicine. February 9, 2009. < http://ghr.nlm.nih.gov/condition=myotonicdystrophy>.
been previously touched by an infected person, will transmit the disease to the healthy person who
The problem is that when a red blood cell with hemoglobin S releases oxygen, the cell changes from the usual doughnut shape to a sickle or S shape, and becomes stiff rather than soft and flexible like normal red blood cells. This "sickled cell," which resembles a crescent moon, can't continue to glide through the small blood vessels as usual. Instead, it gets stuck in the tiny blood vessels, blocking the flow of blood and causing pain.
...creases, therefore speeding the sickling process. Sickle cells also have a shorter life span (10 - 20 days) than normal red blood cells (90 - 120 days). Every day the body produces new red blood cells to replace old ones, but sickle cells become destroyed so fast that the body cannot keep up. The red blood cell count drops, which results in anemia. This gives sickle cell disease its more common name, sickle cell 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.
Sickle Cell is a disease that affects many people in the world today. It is the number one genetic disorder in the United States. Sickle Cell is deficient hemoglobin. Hemoglobin is what functions in providing oxygen to the cells in the body. The sickle shape comes from the atypical hemoglobin s molecules. Hemoglobin molecules are composed of two different parts called the alpha and beta. The beta subunit of the hemoglobin molecule has a mutation in gene, on chromosome 11 which produces the change in the red blood cell shape causing them to die and not reproduce accurately. The change in shape causes the red blood cells to get stuck in the blood vessels and block the effectiveness of oxygen transport causing pain and organ damage to the body. This disease does not have a cure and some common treatments are used to help patients live with the disease. Some treatment options are antibiotics (penicillin) to prevent infections, blood transfusions, folic acid that help produces new blood cells. These are just some of the current treatments for Sickle Cell.
The virus cannot be transmitted directly from person to person, with that being said if a person does become infected there is no treatment for the virus. Now efforts to reduce pain and lower the fever are taken but the medications used for it have to be chosen carefully because some may increase a bleeding risk. Some of the symptoms of this virus are an abdomen and muscle pain; the whole body get the chills, fatigue, fever begins, or may have an loss of appetite; it’ll cause bleeding, delirium, headaches, nausea, vomiting, and the main reason it’s called ‘Yellow’ Fever because it may turn your skin or eyes yellow.
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.
Red blood cells are carriers of oxygen. A percentage of these cells contain hemoglobin, which has the capacity to combine with iron. It's the iron-hemoglobin molecular structure that helps carry oxygen-rich blood from the lungs to your tissues and in return, delivers carbon dioxide back to the lungs to be expelled. A CBC with Differential that shows low red blood cell levels can indicate anemia. RBCs comprise about 40% of total blood volume; the RBC count is the number of red blood cells per cubic millimeter of blood (Rauen, 2012). Normal red blood cells values vary a...
2. (2012, 02). Phenylketonuria. Your Guide to Understanding Genetic Conditions. Retrieved 04, 2014, from http://ghr.nlm.nih.gov/condition/phenylketonuria
25 November 2011. “Vitamin D Deficiency.” webmd.com. Retrieved April 24, 2019. WebMD, 13 July 2009.
Thalassemia is a blood disorder transferred through families. It occurs when the body makes less hemoglobin than needed or an unusual form of hemoglobin. Hemoglobin is the protein in red blood cells that carry oxygen. The disorder makes an excessive amount of destruction of red blood cells. This eventually leads to anemia.