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
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
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.
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 naturally occurring hormone Erythropoietin is primarily found in the kidneys and liver and is used to regenerate red blood cells found in red bone marrow(Heuberger et al. 2013). As red blood cells have no nucleus or cellular components they only have a short lifespan of around 120 days before Erythropoietin is required to regenerate more using the process Erthropoiesis(Heuberger et al. 2013). Erythropoietin also has uses in protecting neural activity and the blood brain barrier(Noguchi et al. 2007) however these factors will not be discussed in this essay.
... to demonstrate that hemoglobin attaches to the VIVO2+ ion at two locations of comparable strengths, named β and γ. This study has also proven that the interaction of red blood cells cannot be ignored when the conveyance or the pharmacological properties of a V compound is taken into consideration. In general, this paper does well in supporting the information available concerning hemoglobin. This article boosts the information available, concerning the diseases, genetics and functions of hemoglobin proteins. The authors achieve this by getting down to the basic level via the examination of the crystallographic structures of hemoglobin. This research has demonstrated novel examples associated with hemoglobin, pertaining to its processes and its purpose of movement. This study has immense implications for the grasp and the management of various diseases of hemoglobin
...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.
Tortora, G., & Derrickson, B. (2012). The cardiovascular system: The blood. In B. Roesch (Ed.),
Marfan syndrome (MFS) is a fairly common inherited connective-tissue disorder. The syndrome can be found in 1 in every 5000 births worldwide (Giarelli, Bernhardt, & Pyeritz, 2010). MFS has been recognized for more than 100 years, in fact it was speculated that Abraham Lincoln had the disorder (Amado & Thomas, 2002). There is still no current cure, but early recognition and intervention can play a key role in the prevention of the sudden cardiac complications (Midla, 2008). For those Marfan patients diagnosed the life expectancy is close to normal, yet tends to be under diagnosed (Pyrietz, 2000). The nurse should have a broader understanding of MFS since recognition is essential for the diagnosis. Since MFS is primarily an inherited disorder, it of equal importance that the nurse understands that a referral to a geneticist is an imperative n...
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.
Each red blood cell in the human body contains about 280 million hemoglobin molecules. Hemoglobin is the most important component of red blood cells. Red blood cells are composed of a protein (globulin) and a molecule (heme), which binds to iron. Normal hemoglobin causes regular oxygen and carbon dioxide exchange. In the lungs, the heme, which binds to iron, component takes up oxygen and releases carbon dioxide. The red blood cells carry the oxygen to the body's tissues, where ...
Sickle cell disease is an inherited disease where the red blood cells in the body are produced abnormally by bone marrow as crescent shaped red blood cells. Unlike normal red blood cells, sickle shaped cells are unable to deliver much oxygen to other parts of the body due to the abnormal hemoglobin. Sickle cell’s are stiff and sticky and tend to clump together between blood vessels that can cause pain, damage to the organs, and infections. If a child inherits this disease they can be healthy throughout their life or need special care. “In the United States, SCD is most common among blacks and Hispanics. SCD affects about 1 in 500 black births and about 1 in 36,000 Hispanic births in this country. SCD is also common among people with family from Africa, the Caribbean, Greece, India, Italy, Malta, Sardinia, Saudi Arabia, Turkey or South or Central America (March of Dimes)”.
Red blood cells with normal hemoglobin (HbA) move easily through the bloodstream, delivering oxygen to all of the cells of the body. Normal red blood cells are shaped like doughnuts with the centers partially scooped out and are soft and flexible.
Sickle cell anemia is a disease that has to be inherited from both parents. Both parents have sickle cell trait, which means each parent has sickle hemoglobin and normal hemoglobin. So people with the sickle cell trait can pass the sickle cell gene to their children. Most families that come from Africa, South Central, and Central America are more common with sickle cell anemia. According to National Heart, Lung and Blood, it’s estimated that the sickle cell disease has affected 70,000-100,000 people mainly African Americans (National Institute of Health, 2012). Hispanic Americans also are common to having sickle cell anemia. According to National heart, Lung, and Blood Institute, statistics shows sickle cell anemia occurs in about 1 out of every 500 African American births and 1 out of 36,000 Hispanic American births (National Institute of Health, 2012). Signs of sickle cell anemia don’t show until after 4 months of age. Sickle cell anemia begins from ...
Khan, Aneal. “Williams Syndrome.” Ed. Stuart Berger. Medscape. WebMD, 12 Mar. 2012. Web. 15 Feb. 2014. .
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.