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.
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.
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
Sickle cell anemia is an inherited disease of red blood cells. Normally red blood cells contain a protein called hemoglobin A, which carries oxygen to all the organs in the body. With sickle cell anemia, however, the body makes a different kind of protein, called hemoglobin S.
Sickle cell anemia is a genetic disorder. For a person to have sickle cell anemia they must have received two copies of the gene, one from each parent. A person with the sickle cell trait only received one sickle cell gene and a normal hemoglobin gene. People who have the sickle cell trait do not develop sickle cell anemia however they can pass the deformed gene on to their children. People with just the trait do not face the complications caused by the disorder.
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.
Some of our population may be more at risk then others due to the ethnic background. This diseases is more prominent in some races more than others and studies have shown where the numbers increase or decrease depending on the race. Decedents of Africa, India, the Mediterranean, South and Central America and the Caribbean have a higher percentage of diagnoses. Countries who are exposed to the malaria parasite have the higher number of Sickle Cell cases. The percentage of African Americans with sickle cell is about 1 in 500 and a percentage 1 in 1,000 to 1,400 in Hispanic Americans. People of Caucasian race are less likely to have the diseases because of the history of the d...
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.
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.