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عنوان فارسی مقاله:
ارتباط ژنوتیپ فنوتیپ در الیپتوسیتوز و پیرو پویی کیلوسیتوزیس ارثی
عنوان انگلیسی مقاله:
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis
سال انتشار : 2016
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مقدمه انگلیسی مقاله:
1. Introduction
Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are genetically and phenotypically heterogeneous hemolytic anemias that result from mutations in the genes encoding the red blood cell (RBC) cytoskeleton proteins α-spectrin, β-spectrin, or protein 4.1R [1]. Spectrin, the primary RBC cytoskeleton protein, is composed of α-β heterodimers assembled in antiparallel fashion into flexible rods which self-associate head-to-head (each head composed by the N-terminal region of α-spectrin and the C-terminal region of β-spectrin) to form tetramers [2,3]. Binding of the spectrin tetramer with actin at the junctional complex is mediated by protein 4.1R and is essential for RBC membrane stability (Fig. 1) [4]. Defects in the spectrin-protein 4.1R-actin complex weaken the “horizontal” cytoskeletal associations causing decreased mechanical stability and deformability of erythrocytes [5]. HE/HPP disease is caused by mutations in SPTA1 and SPTB genes, causing qualitative defects of α- and β-spectrin respectively, and in EPB41 gene causing quantitative or qualitative defects of protein 4.1R. SPTA1 and SPTB mutations can be within or near the spectrin selfassociation domains disrupting the stability of spectrin tetramer, or away from the spectrin head-to head self-association site, mostly affecting residues critical for interactions between spectrin helices or between spectrin and ankyrin [1]. The clinical diagnosis of HE and HPP relies on identifying abnormal RBC morphology on peripheral blood smear (elliptocytes, poikilocytosis and fragmented RBCs), and identifying characteristic membrane biomechanical properties using osmotic gradient ektacytometry. Ektacytometry is an objective reference technique that can aid in the diagnosis of RBC membrane disorders [6]. In ektacytometry, the deformability of the patient's RBCs is assessed based on their laser diffraction pattern while they are subjected to a defined value of shear stress and an increasing osmotic gradient [7,8]. The resulting ektacytometry curve reflects biomechanical properties of the RBCs including osmotic fragility, surface-to-volume ratio, cytoskeleton
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کلمات کلیدی:
Genotype-phenotype correlations in hereditary elliptocytosis and ... https://utsouthwestern.influuent.utsystem.edu/.../genotype-phenotype-correlations-in-... Oct 1, 2016 - Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result ... [PDF]Genotype-phenotype correlations in hereditary elliptocytosis and ... iranarze.ir/wp-content/uploads/2016/10/E478.pdf Jul 17, 2016 - Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. Omar Niss a,⁎, Satheesh Chonat b, Neha ... Genotype/phenotype correlation in hereditary spherocytosis ... www.haematologica.org/content/93/9/1283 by A Iolascon - 2008 - Cited by 29 - Related articles Genotype/phenotype correlation in hereditary spherocytosis. Achille Iolascon, Rosa Anna Avvisati. Haematologica September 2008 93: 1283-1288; ... Genotype-phenotype correlations in hereditary elliptocytosis and ... test.pubpharm.de/vufind/Record/1979878218?institution...ALL - Translate this page Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. Enthalten in: Blood cells, molecules, & diseases : BCMD San ... Metabolic Diseases: Foundations of Clinical Management, Genetics, ... https://books.google.com/books?isbn=1614997187 E. Gilbert-Barness, L.A. Barness, P.M. Farrell - 2017 - Medical Foundations of Clinical Management, Genetics, and Pathology E. Gilbert-Barness, L.A. Barness, ... Genotype/phenotype correlation in hereditary spherocytosis. Hematology: Diagnosis and Treatment E-Book https://books.google.com/books?isbn=1455776882 Ronald Hoffman, Edward J. Benz, Leslie E. Silberstein - 2013 - Medical Bruce L]: Hereditary stomatocytosis and cation—leaky red cellsiRecent ... Avvisati RA: Genotype/ phenotype correlation in hereditary sphe— rocytosis.
