RBC membrane disorders consist of HS where it is identified by the diversity in clinic and laboratory which is also revealed by recent molecular studies. A mutation is found in one of the spherocytosis genes causing erythrocyte membrane defects. The Laparoscopic approach has been one of the new surgical procedures for splenectomy for the treatment of HS. Partial splenectomy is done in children to avoid post-splenectomy sepsis. The latest management helps in understanding the protocol of splenectomy and suggest a meticulous discussion between the patient, the family and the healthcare provider. Hereditary Spherocytosis (HS) or Minkowski–Chauffard syndrome is a genetic familial haemolytic condition which causes defects in the internal cytoskeleton of erythrocytes membrane leading to anaemia. The cells have sphere-like shape instead of bi-concave lacking flexibility; hence it becomes more susceptible to haemolysis as they cannot pass through the vessels without changing their shapes. According tothe genetic defect is caused by the heterogeneous modification in one of the six genes, which encodes for the protein involved in vertical associations that tie the cell membrane skeleton to the lipid-bilayer. The erythrocyte membrane skeleton defects are responsible for different hereditary haemolytic anaemia’s associated with the abnormal shape of the erythrocytes. Haemoglobin is released due to haemolysis. There are more reticulocytes present in the circulation and bone marrow tries to produce more RBC than usual in order to prevent anaemia Hereditary Spherocytosis (HS) is found worldwide, but most commonly found in Northern European descends. It affects approximately 1 in 1000-2500 individuals depending on the diagnostic principle wher... ... middle of paper ... ...pleen and preserving enough tissue for it would help it to carry out the desired haematological and immune functions. Partial splenectomy decreases the symptoms of hyper-splenism and splenic sequestration in children with haemoglobinopathies, whereas the splenic function is less well reserved as compared to children with spherocytosis This can be supported by the early studies where surgical procedure done by in 11 patients showed that haemoglobin values increased whereas the reticulocytes values decreased. This results in the direct increase in the number of erythrocytes life span after the partial splenectomy. ] summarised their experience in Europe explaining that the irregular rates of splenic re-growth does not associate with the recurrent haemolysis and the reasons behind this are unclear which could be due to parenchymal remodelling after partial resection.
Cardiomyopathy, by definition, means the weakening of the heart muscle. The heart is operated by a striated muscle that relies on the autonomic nervous system to function. Cardiomyopathy is diagnosed in four different ways based on what caused the illness and exactly what part of the heart is weakened. The four main types of cardiomyopathy are dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular dysplasia. One other category of cardiomyopathy that is diagnosed is “unclassified cardiomyopathy.” Unclassified cardiomyopathy is the weakening of the heart that does not fit into the main four categories.
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 largest lymphatic organ in the body is the spleen. The spleen stores healthy blood cells and breaks down aging red blood cells. It also helps make lymphocytes and other types of red blood cells. Another function of the spleen is it collects pathogens from the blood and attacks the trapped pathogens. The adenoids are masses of lymph tissue found in the nose and throat. The two ...
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.
Sickle cell disease is a group of disorders that affects the blood, specifically, a molecule called hemoglobin in red blood cells (“sickle cell disease”, 2016). Hemoglobin is a molecule that facilitates the delivery of oxygen throughout the body (“sickle cell disease”, 2016). A mutant form of the hemoglobin molecule causes red blood cells to become crescent shaped or “sickled shaped” (Lonergan et. al. 2001). This distorted shape of red blood cells causes rigidity of the blood cells and vaso-occulusion (or the blood vessels to become clogged) (Rees et.al., 2010). This often leads to a low number of red blood cells (anemia), repeated infections and episodes of pain that are periodic (“Sickle cell disease”, 2016). Although sickle cell disease
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
Approximately, 1 of every 500 people is affected with hypertrophic cardiomyopathy, it is important for patients to understand the dynamics of the disease as it could potentially be life threatening. In most cases, the patients quality of life is not affected, but a few will experience symptoms that cause significant discomfort or undetected complications that could lead to sudden cardiac death. With that in mind, it would be beneficial to recognize what it is, specific causes, the steps of diagnoses, and the options for treatment.
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 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.
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.
The spleen stores blood. The spleen is made up of two types of tissue which consist of the red pulp and white pulp. The function of the red pulp is to store and remove red blood cells. The white pulp consists of localised areas of lymphoid tissue within the spleen and produces the lymphocytes. ( Reeder et al., 2009).
Transfusion in CS needs special consideration as this procedure is carried out in relatively young patients who are usually free of serious co-morbidities and have approximately four to five decades of lifetime in front of them. Ideally these patients do not need replacement with blood, as long term complications of allogeneic transfusion have a bigger impact on them (23).
Sickle Cell Anemia seems to be one of the hardest conditions to live with due to the severity of its symptoms and it can be an encumbrance to everyday life. Although this condition is hard to live with, it is possible to live with it. Thanks to the twenty-first century advancements, there is great medical care available to patients and many other resources and support groups to help families through this harsh reality of living with sickle cell. Perhaps one day there will be a readily available cure for this horrible disease. Until then, a patient with sickle cell should have a support system and take care to live a healthy life so that they can live their life to the fullest.
The liver and lymph nodes would be able to take over and replace the job of the spleen.1 A spleen is most commonly removed after being ruptured, acquiring a disease, infection, or cancer.5 However, there are many risks of removing your spleen. The main effect of a splenectomy is an increased risk of acquiring a serious infection. After a splenectomy, doctors usually recommend vaccines, yearly flu shots, and antibiotics as a precaution.2 Children who undergo a splenectomy may be prescribed antibiotics for several years to ensure they do not get infections after surgery.3 Some symptoms to look out for after a splenectomy are chills, temperatures over 100.4 F, a sore throat, red/tender spots, and a longer than usual cold. Any of these symptoms may indicate that you have a serious infection and you should seek medical attention