Hereditary Spherocytosis

1300 Words3 Pages
bulb-icon

Recommended: Spherocytosis

Erythrocytes are naturally a biconcave disc, which results in a larger membrane surface to volume ratio than a sphere shaped disc. These cells have the strength and flexibility needed to survive for 120 days in circulation. Their peripheral proteins stabilize the membrane and are responsible for their shape. These proteins include sprectrin, actin, ankryn, and band-4-protein. Peripheral proteins are attached to the red blood cell (RBC) membrane. Ankyrin-1 stabilizes the membrane by linking beta spectrin to band-3. The band-3-protein is part of the integral membrane and functions as an anion exchanger, glucose transporter, and water channel (Hamasaki, 1999).

A genetic disorder weakening the vertical linkage between the peripheral protein membrane and the integral protein membrane can cause reduction of membrane surface, reduction ratio of surface area to volume, and formation of 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 cause of HS is the mutations in the gene encoding the membrane protein ankyrin-1 (Gallagher, Steiner, Liem, Owen, Cline, Seidel, Garrett, & Bodine, 2010).

Hereditary Spherocytosis is the most common form of inherited hemolytic anemia in the US, northern Europe, and notably in Japan, affecting one person in 2000. HS can be found in most racial groups, but it is less common in African American and south Asia...

... middle of paper ...

... 1999). The role of band 3 protein in oxygen delivery by the red blood cells. Indian Journal of Clinical Biochemistry, 14 (1), 49-58. Retrieved on Feb. 23, 2014 from http://www.ncbi.nlm.nih.gov/pmc/articles/PM3453557/

Garg, P., Kumar, A., Teckchandani, N., Hadke, N., (2008). Hereditary spherocytosis coexisting with Gilbert’s syndrome: a diagnostic dilemma. Singapore Med J. Retrieved on Feb. 22, 2014 from http://smj.sma.org.sg/4911/4911cr5.pdf

Perrotta, S., Gallagher, P., Mohandas, N., (Oct. 2008). Hereditary spherocytosis. The Lancet, Vol. 372, pp. 1411-1426. Retrieved on Feb. 22, 2014 from http://www.medicine.wisc.edu/~williams/spherocytosis_lancet_2008.pdf

Zhi, Z.W. (September 2013). The clinic research of the modified laparoscopic splenectomy in the treatment of children with hematologic diseases. Retrieved Feb. 22, 2014 from http://omim.org/entry/182900

Show More
Related

  • Sheep Red Blood Cells Lab Report

    518 Words  | 2 Pages

    In this experiment, we determined the isotonic and hemolytic molar concentrations of non-penetrating moles for sheep red blood cells and measured the absorbance levels from each concentration. The results concluded that as the concentration increased the absorbance reading increased as well. A higher absorbance signifies higher amounts of intact RBCs. The isotonic molar concentration for NaCl and glucose is 0.3 M. The hemolysis molar concentration for NaCl and glucose is 0.05 M. Adding red blood cells to an isotonic solution, there will be no isotonic pressure and no net movement. The isotonic solution leaves the red blood cells intact. RBC contain hemoglobin which absorbs light, hemoglobin falls to the bottom of the tube and no light is absorbed. Determining the isotonic concentration of NaCl and glucose by finding the lowest molar concentration. In contrast to isotonic molar concentration, hemolysis can be determined by finding the

    Read More

  • How the Dialysis Tubing Compares to the Cell Membrane

    1029 Words  | 3 Pages

    In life, it is critical to understand what substances can permeate the cell membrane. This is important because the substances that are able to permeate the cell membrane can be necessary for the cell to function. Likewise, it is important to have a semi-permeable membrane in the cell due to the fact that it can help guard against harmful items that want to enter the cell. In addition, it is critical to understand how water moves through the cell through osmosis because if solute concentration is unregulated, net osmosis can occur outside or inside the cell, causing issues such as plasmolysis and cytolysis. The plasma membrane of a cell can be modeled various ways, but dialysis tubing is especially helpful to model what substances will diffuse or be transported out of a cell membrane. The experiment seeks to expose what substances would be permeable to the cell membrane through the use of dialysis tubing, starch, glucose, salt, and various solute indicators. However, before analyzing which of the solutes (starch, glucose, and salt) is likely to pass through the membrane, it is critical to understand how the dialysis tubing compares to the cell membrane.

    Read More

  • Fetal Pig Dissection Essay

    996 Words  | 2 Pages

    The circulatory system and respiratory system share a highly important relationship that is crucial to maintaining the life of an organism. In order for bodily processes to be performed, energy to be created, and homeostasis to be maintained, the exchange of oxygen from the external environment to the intracellular environment is performed by the relationship of these two systems. Starting at the heart, deoxygenated/carbon-dioxide (CO2)-rich blood is moved in through the superior and inferior vena cava into the right atrium, then into the right ventricle when the heart is relaxed. As the heart contracts, the deoxygenated blood is pumped through the pulmonary arteries to capillaries in the lungs. As the organism breathes and intakes oxygenated air, oxygen is exchanged with CO2 in the blood at the capillaries. As the organism breathes out, it expels the CO2 into the external environment. For the blood in the capillaries, it is then moved into pulmonary veins and make

    Read More

  • Sheep Heart Dissection

    1386 Words  | 3 Pages

    oxygen out of the blood and uses it in the body's cells. The cells use

    Read More

  • Drug Testing in The Olympics

    762 Words  | 2 Pages

    Red blood cells deliver the oxygen to the muscles and organs of the body.

    Read More

  • Marfan Syndrome Essay

    990 Words  | 2 Pages

    Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.

    Read More

  • Hereditary Spherocytosis

    1112 Words  | 3 Pages

    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?”

    Read More

  • Erythropoiin Essay

    682 Words  | 2 Pages

    The process by which Erythropoietin regulates red blood cell production is called Erythropoiesis. When the kidneys and liver detects hypoxia in the blood Erythropoietin is released which stimulates red bone marrow to increase red blood cell production allowing for greater oxygen transport throughout the bloodstream(Martini, Ober & Nath 2014). The following diagram illustrates the cycle of Erythropoiesis when oxygen levels in the blood stream increase and decrease.

    Read More

  • Mononucleosis

    1056 Words  | 3 Pages

    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.

    Read More

  • Genetic Disorders: Cardiofaciocutaneous Syndrome

    1004 Words  | 3 Pages

    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.

    Read More

  • Williams Syndrome

    1095 Words  | 3 Pages

    Khan, Aneal. “Williams Syndrome.” Ed. Stuart Berger. Medscape. WebMD, 12 Mar. 2012. Web. 15 Feb. 2014. .

    Read More

  • Osmosis Research Paper

    1647 Words  | 4 Pages

    They have no nuclei or mitochondria in human cells, which means their small size can fit through very small capillaries. They are produced in the bone marrow (since they cannot reproduce as they have no DNA from mitochondria and nucleus). They contain hemoglobin, an iron-rich protein, which attracts oxygen. This makes it easy for red blood cells to obtain oxygen, and then transport it to the tissue in the body through the bloodstream. They also pull out carbon dioxide from the blood stream, and transport it to the lungs to be breathed out.

    Read More

  • Rheumatoid Arthritis: Causes, Treatments, and Future Cure

    1253 Words  | 3 Pages

    Rodak, B. F., Fritsma, g. A., & Doig, K. (2007). Hematology: Clinical Principles and applications. St. louis: Saunders Elsevier.

    Read More

  • Rowena's Body: A Case Study

    512 Words  | 2 Pages

    Rowena’s ABG results demonstrates right shift on oxygen haemoglobin dissociation curve, which can be identified by increased PCO2 and temperature and decreased pH of the blood. The right shift indicates that Rowena has decreased affinity in haemoglobin for oxygen. So, the O2 is released in tissue or cells easily. However, the body is trying to compensate the respiratory acidosis with the rise of PaO2. After the O2 is absorbed by the blood, the CO2 binds to the Hb to be excreted

    Read More

  • Human Blood Essay

    1048 Words  | 3 Pages

    Red Blood Cells contain hemoglobin molecules to help bind to oxygen to bring to other tissues. Without this function, cells would not be able to go through the process of cellular respiration and can only survive a short time. Red Blood Cells are also able to carry bicarbonate as a waste product and carry a variety of hormones to communicate between organs.

    Read More

More about Hereditary Spherocytosis

Open Document