This website uses cookies to ensure you have the best experience. Learn more

Hereditary Spherocytosis Essay

1109 words - 5 pages

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 where an individual with this condition may have a 50% chance of passing it on to the family. “It is a congenital haemolytic anaemia that is dominantly inherited in 75% of cases; the remaining cases show a recessive or non-dominant pattern of inheritance, such as spontaneous de novo mutations, which are often caused by family-specific private mutations” (Agre et al, 1986; Eber et al, 1990; Miraglia del Giudice et al, 1998).
Haemolysis is primarily confined to spleen and is extra-vascular which is caused by the alterations in the red cell membrane due to defects in at least five genes:
ANK1 (ankyrin), EPB3 (band -3), ELB42 (protein 4.2), SPTA1 (spectrin ) and SPTB (spectrin )
Four abnormalities in the HS erythrocytes have been distinguished which include: Spectrin deficiency, combined spectrin and ankyrin deficiency, Band 3- deficiency and Protein 4.2 defects. According to Ankyrin-1 is the predominant linker molecule which connects spectrin to CDB3 (cytoplasmic domain of band -3), the erythrocyte anion exchanger. The major cause of approximately half of all cases, dominant and recessive mutation is due to Ankyrin-1 protein, whereas some less common mutations are caused by band-3 protein.This may produce the following...

Find Another Essay On hereditary spherocytosis

phase diagram Essay

4456 words - 18 pages Introduction: Chemical equilibrium is a crucial topic in Chemistry. To represent and model equilibrium, the thermodynamic concept of Free energy is usually used. For a multi-component system the Gibbs free energy is a function of Pressure, Temperature and quantity (mass, moles) of each component. If one of these parameters is changed, a state change to a more energetically favorable state will occur. This state has the lowest free energy

Revolutionary Work of Art Essay

1890 words - 8 pages Walter Benjamin emphasizes in his essay, “The Work of Art in the Age of its Technological Reproducibility” that technology used to make an artwork has changed the way it was received, and its “aura”. Aura represents the originality and authenticity of a work of art that has not been reproduced. The Sistine Chapel in the Vatican is an example of a work that has been and truly a beacon of art. It has brought a benefit and enlightenment to the art

Enlightenment Thought in New Zealand Schools

1594 words - 6 pages In this essay I will be looking at how the political and intellectual ideas of the enlightenment have shaped New Zealand Education. I will also be discussing the perennial tension of local control versus central control of education, and how this has been affected by the political and intellectual ideas of the enlightenment. The enlightenment was an intellectual movement, which beginnings of were marked by the Glorious Revolution in Britain

Psychological Egoism Theory

2240 words - 9 pages The theory of psychological egoism is indeed plausible. The meaning of plausible in the context of this paper refers to the validity or the conceivability of the theory in question, to explain the nature and motivation of human behavior (Hinman, 2007). Human actions are motivated by the satisfaction obtained after completing a task that they are involved in. For example, Mother Teresa was satisfied by her benevolent actions and

How Celtic Folkore has Influenced My Family

1587 words - 6 pages Every family has a unique background that influences the way they live and interact with other people. My parents, who emigrated from Ireland to the States with my three brothers in 1989, brought over their own Celtic folklore and traditions that have helped shaped the way our family operates and lives. One aspect of folklore that has helped shape my family dynamic is the Celtic cross—both its background and what role it has played in our lives

Julia Margaret Cameron

1406 words - 6 pages At a time when women were looked upon as being homemakers, wives, mothers and such the late 1850's presented a change in pace for one woman in specific. Photography was discovered in 1826 and soon after the phenomenon of photography was being experimented with and in turn brought new and different ways of photo taking not only as documenting real time, but also conceptualizing a scene in which an image would be taken. Julia Margaret Cameron will

Evaluation of School Improvement

1403 words - 6 pages The evaluation process should be progressive to incorporate overall planning, implement changes, which contribute to success. In order to focus on school climate and norms, the evaluation design must include the students, instructions, and outcomes to improve communication and building-level concerns to be address in this response. School Climate and Social Norms The school principal, other staff leaders, and personnel set the tone and the

Case Study: The Benefits of Animal Testing

1757 words - 7 pages Nine year old Amy has already had a rough start in life. She was born with an abnormal heart that hinders her everyday activities. Amy is unable to keep up with kids her own age because she often tires out easily. As a consequence, she has very little friends and is often alone. Amy is forced to take different medications everyday just to survive. Amy’s life consists of medicine, doctors, and constant hospital visits. However, Amy is due for a

Myth and Magic: Realism in "One Hundred Years of Solitude"

1531 words - 6 pages “He enjoyed his grandmother's unique way of telling stories. No matter how fantastic or improbable her statements, she always delivered them as if they were the irrefutable truth” (Wikipedia, 2011). Experiences are particular instances of one personally encountering or undergoing something and in these moments of time life changes for the best or the worst and memories are formed. These recollections such as riding your first bicycle, going to

Adiponectin: a Novel Indicator of Malnutrition and Inflammation in Hemodialysis Patients

2384 words - 10 pages Objective Protein-Energy malnutrition (PEM) and inflammation are common and overlapping conditions in hemodialysis patients which are associated with increased risk of morbidity and mortality. Adiponectin is an adipocytokine which is exclusively produced by adipose tissue. Few studies in hemodialysis patients have demonstrated that serum levels of adiponectin were significantly higher in malnourished patients compared to well-nourished ones. The

The Congo Free State: A Legacy of Apathy, Exploitation and Brutality

2298 words - 9 pages Between 1885 and 1908, Belgium’s Leopold II ruled Congo, a region in central Africa, as his personal colony, exploiting the resources and inhabitants for his own gain. Leopold allowed and encouraged Europeans and other Westerners to enter Congo and set up companies whose primary purpose was to gather rubber, which was abundant but difficult to get to in the Congo, using the Congolese as the laborers for the Europeans. Rubber gathering in Congo

Similar Essays

Hereditary Spherocytosis Essay

1185 words - 5 pages Hereditary Spherocytosis: “What is hereditary spherocytosis, and is there cure?” 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

Hereditary Spherocytosis Essay

1567 words - 6 pages spherocytes, sphere shaped RBCs. An example of this would be a weaken linkage between the band-3-protein and ankryin-1 (Perrotta, Gallagher, & Mohandas, 2008). This is a result of heterogeneous alterations in genes encode for proteins responsible for binding cite of the RBC’s inner membrane skeleton to its outer lipid bilayer. An inherited abnormality in RBC’s cause by membrane protein defects is known as Hereditary Spherocytosis (HS). The most common

Genetics Paper

1960 words - 8 pages reproduction, the said affected gene gets passed to the offspring. Such genetic predispositions can result in disadvantages in those affected and present difficulties when trying to respond to or reverse the resulting disease. Hereditary spherocytosis and familial acute myeloid leukemia are two such conditions that affect normal red blood cell (RBC) and white blood cell (WBC) functions, respectively, that can also be passed from generation to

When The Bubble Burst Essay

1539 words - 6 pages By the time I arrived state side from my second tour in the Middle East the housing bubble had already burst. I noticed a drastic change in the way that many of my friends and family were living. Several of my friends that worked in real estate had sold their boats and seconds houses. My own stock portfolio had lost a third of its value. My sister and her husband had defaulted on their home mortgage leaving them scrambling for a place to live. I