Hereditary Spherocytosis Paper
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.Hereditary Spherocytosis Paper 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.Hereditary Spherocytosis Paper 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).
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Physiologically important secondary modifications of red cell membrane in hereditary Spherocytosis- evidence for in vivo oxidation and lipid rafts protein variations The experimental research published in the article, Physiologically important secondary modifications of red cell membrane in hereditary spherocytosis- evidence for in vivo oxidation and lipid rafts protein variations by Margetis, Antonelou, Karababa, Loutradi, Margaritis, and Papassideri, attempts to identify the relationship between the molecular mechanisms of pathogenesis and the diversity of the disorder, hereditary spherocytosis (HS). HS is characterized by irregular morphology and shorten life span of red blood cells. The three forms of…show more content…
The biologists’ motive is explained by the high number of cases around the world. In total, 1 out of every 1,000-2,500 individuals are affected by HS and suffer from hemolysis, jaundice, and splenomegaly.Hereditary Spherocytosis Paper The disease compromises patients’ fragility and increases susceptibility to events resulting in the rupturing of the spleen, liver failure, and kidney failure. The disease is characterized by inherited modifications to five main proteins found in the cell membrane and the exoskeleton of red blood cells, ankyrin-1, band 3, alpha-spectrin, beta-spectrin, or/and band 4.2. Interestingly, it is believed the same protein deficiencies can cause different levels of severity. To study the red blood cell membrane proteins, cytoskeleton proteins, and lipid raft proteins, white ghosts and membrane ghost were prepared from the subjects’ and pateints’ blood samples. The ghosts and skeletons were analyzed on SDS-PAGE Laemmli-exponential gels
and immunoblots under reducing and non-reducing environments. Oxidative data was collected from an Oxidation Detection Kit from Chemicon. Protein bands were viewed by using digital scanning densitometry software. Table 1, displays the densitometic analysis of membrane protein deficiencies in each of the subjects and patients as well as red blood cell counts, Hb density, MCHC, RDW%, RET %, and bilirubin levels. From this data, the subjects were categorized according to their primary.Hereditary Spherocytosis Paper
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