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Epub 2017 Dec 26. The condition is caused by a cytoskeletal protein deficiency in the RBC membrane. [Erythrocyte membrane and hereditary spherocytosis]. Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. Deficient red-cell spectrin in severe, recessively inherited spherocytosis. Careers. Expert Rev Cardiovasc Ther. Found inside Page 159Table 10.2 Classification of erythrocyte membrane disorders Disorder Gene Protein Inheritance Hereditary spherocytosis ANK1 AD SPTB AD SPTA1 AR Ankyrin-1 Spectrin chain Spectrin chain Band 3 anion transport protein Erythrocyte Monoallelic mutations in the genes encoding ankyrin (ANK1), beta-spectrin (SPTB) and band 3 (SLC4A1) or biallelic mutations in the genes encoding alpha-spectrin (SPTA1), ankyrin, and protein 4.2 (EPB42) result in HS. Found inside339. hereditary spherocytosis --autosomal dominant, defect spectrin, spherocytosis and polychromatophilia. Usually the MCV is normal but the mean corpuscular hemoglobin concentration is elevated.-> may develop cholelithiasis and present This icon denotes a clinically relevant abstract. Found inside Page 1758Hereditary Spherocytosis Due to a - Spectrin Mutations < 5 % of hereditary spherocytosis . Autosomal recessive . a - Spectrin LEPRA , a common , low expression splicing defect , is often paired with a second , presumably null allele . The biochemical nature and the degree of spectrin deficiency are reported to correlate with the extent of spherocytosis, the degree of abnormality on osmotic fragility test results, and the severity of hemolysis. This volume focuses on the recent advances in understanding plasma membrane organization and function beginning with simple systems and extending to specialized membrane domains of vertebrate cells. Found inside Page 317The uncommon autosomal recessive forms of hereditary spherocytosis have been associated particularly with compound heterozygosity or homozygosity for spectrin (SPTA) mutations [71] but also with mutations of the band 3 [70], Hereditary spherocytosis (HS) is a genetically and phenotypically heterogeneous hemolytic anemia caused by deficiency in red blood cell (RBC) cytoskeleton proteins leading to disruptions in the vertical association of the cytoskeleton with the RBC lipid bilayer. This is most likely due to the overproduction of spectrin in erythroid progenitors. Spherocytic RBCs are rapidly removed from the circulation by the spleen. 2019 Jul 30;116(31):15686-15695. doi: 10.1073/pnas.1820649116. Shohet SB. Hereditary spherocytosis. Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin. This splicing mutation may allow for some expression of functional alpha-spectrin protein from this allele in contrast to no protein expression in the previous cases of premature termination. Gallagher PG, Maksimova Y, Lezon-Geyda K, Newburger PE, Medeiros D, Hanson RD, Rothman J, Israels S, Wall DA, Sidonio RF Jr, Sieff C, Gowans LK, Mittal N, Rivera-Santiago R, Speicher DW, Baserga SJ, Schulz VP. Aberrant splicing contributes to severe -spectrin-linked congenital hemolytic anemia. This mutation leads to activation of an alternate acceptor splice site at position -70 of intron 30, causing frame shift and premature termination, thereby leading to decrease in alpha-spectrin production in this allele to about 16% of normal. FOIA eCollection 2019. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. Blood 77 In 1 of 6 families with autosomal dominant hereditary spherocytosis, Wolfe et al. 1982 May 13;306(19):1155-61. doi: 10.1056/NEJM198205133061906. We found that normal erythrocytes contained 240,000 copies of spectrin heterodimer, whereas erythrocytes from 14 patients with a variety of types of HS were all partially deficient in spectrin (range 74,000-200,000 copies), the magnitude of the deficiency correlating with the severity of the disease. This site needs JavaScript to work properly. Red cell membrane protein analysis by sodium dodecyl sulfate- polyacrylamide gel electrophoresis (SDS-PAGE) and direct quantitation by radioimmunoassay or cytofluorometry defines four distinct subsets of patients with hereditary spherocytosis: Patients with isolated spectrin deficiency, combined spectrin and ankyrin deficiency, band 3 deficiency, and protein 4.2 deficiency. This new edition shows how to accurately identify cells, simplifies hemostasis and thrombosis concepts, and covers normal hematopoiesis through diseases of erythroid, myeloid, lymphoid, and megakaryocytic origins. 19 HS children with haematologically normal parents and varying degrees of spectrin deficiency were studied. Found inside Page 1360Eber SW, Armbrust R, Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr 1990;117:40916. Rocha S, Costa E, Catarino C, Found inside Page 300In hereditary spherocytes that exhibited 46% decrease in spectrin, abnormal growth was immediate after day 2. Hereditary spherocytosis cells with 23 32% decrease in spectrin had apparent abnormal growth, beginning at day 3 or 4. Found inside Page 107In the common form(s) of human hereditary spherocytosis, there is no such quantitative deficiency of spectrin. No anomaly in any of the cytoskeletal constituents is generally to be seen in gel electrophoresis and isoelectric focusing J Clin Invest. PMC 2019 Apr 30;129(7):2878-2887. doi: 10.1172/JCI127195. -spectrin defects are typically inherited in an autosomal dominant manner with the clinical presentation of HS [5, 9]. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. The most common cause of HS is spectrin deciency, heterogeneous in terms of clinical expression, Found inside Page 131(2000) A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. British Journal of Haematology 111: 11903. Hanspal M, Yoon S-H, Yu H et al. (1991) Molecular basis of spectrin and ankyrin Chonat S, Risinger M, Sakthivel H, Niss O, Rothman JA, Hsieh L, Chou ST, Kwiatkowski JL, Khandros E, Gorman MF, Wells DT, Maghathe T, Dagaonkar N, Seu KG, Zhang K, Zhang W, Kalfa TA. Bookshelf Satheesh Chonat, Mary Risinger, Neha Dagaonkar, Tamara Maghathe, Jennifer Rothman, Jessica Connor, Karen Kalinyak, Amber H Begtrup, Kejian Zhang, Theodosia A. Kalfa; The Spectrum of Alpha-Spectrin Associated Hereditary Spherocytosis. A couple with history of two fetal losses associated with hydrops fetalis seeked genetic counseling and gave consent to have diagnostic evaluation of genes associated with non-immune hemolytic anemia using targeted next-generation sequencing. The New England Journal of Medicine, 01 May 1982, 306(19): 1170-1171 DOI: 10.1056/nejm198205133061909 PMID: 7070421 . People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. That the defect resides in alpha-spectrin is indicated by the close linkage of the spherocytosis and alpha-spectrin genes on chromosome 1 (Birkenmeier et al., 1988). Found inside Page 217Further analysis revealed a decreased ability of spectrin to form tetramers because of a defect in -spectrin. 3. Hereditary Spherocytosis in Cattle Severe hemolytic anemia with icterus and splenomegaly is present shortly after birth in Br J INTRODUCTION: Spectrin, a heterodimer of alpha- and beta-subunits, is the major protein component of the red blood cell membrane skeleton. Spectrin-based pathways underlying electrical and mechanical dysfunction in cardiac disease. 13 of the 19 cases who were heterozygous at the genomic level for polymorphisms in the beta-spectrin coding region were further Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Found inside Page 584 as described in the text, are illustrated in the top panel, where the vertical membrane interactions involved in the pathophysiology of hereditary spherocytosis (HS) (band 3ankyrin-protein 4.2-spectrin) are shown to the left. A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency. spherocytosis (HS), whereas defects in horizontal interactions affecting spectrin dimer-dimer interactions or protein 4.1 cause hereditary elliptocytosis (HE).1,6,7,17-19 In mice 5 allelic, recessive mutations in -spectrin have been identied (spherocytosis [sph], sph1J, sph2J, sph2BC, sphDem)and1in-spectrin (ja); all result in Disclaimer, National Library of Medicine Found inside Page 613Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta- spectrin gene. Blood Cells Mol Dis 1998; 24: 251261. Miraglia del Giudice E, Lombardi C, Francese M et al. Frequent de novo monoallelic expression Broken down into eight parts, this book provides readers with a comprehensive overview of: Laboratory Hematology, The Normal Hematologic System, Transfusion Medicine, Disorders of Red Cells, Hemostasis and Coagulation; Benign Disorders of The erythrocyte spectrin concentration was normal in carriers and patients with mild spherocytosis, and was significantly reduced in the moderate and severe states of the disease. P S Becker Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut 06510. Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. Unable to load your collection due to an error, Unable to load your delegates due to an error. Blood 1996; 87 (6): 25382545. Spectrin deficiency of varying degrees is common in HS and probably represents the principal structural defect leading to loss of surface membrane. Found inside Page 1047In most cases, hereditary spherocytosis mutations are private, that is, each individual has a unique mutation, implying that there is no Peripheral Membrane Proteins Spectrin is the major component of the membrane skeleton. The abnormal erythrocytes are sphere-shaped rather than the normal biconcave disk shaped. Found inside Page 16400Dev Biol 1998 Feb gene ( SPTB ) in children with hereditary spherocytosis and PHARMACOLOGY 1 ; 194 ( 1 ) : 1-11 isolated spectrin deficiency . Miraglia del Giudice E , et al . Speculating about spectrin : insights into the Agar dilution To elucidate the basis for the decreased amount of the truncated protein on the membrane and the overall spectrin deficiency, we provide evidence that the mutated gene is transcribed but its mRNA is less abundant than its normal counterpart in reticulocytes; we also show that the mutant protein is synthesized in decreased amounts in the cytoplasm of erythroid progenitor cells, and appears to be susceptible to proteolytic degradation. We show that the truncation of the protein is the result of a single point mutation at position +1 (G-->A) of the donor consensus splice site of intron 17 leading to an aberrant beta spectrin transcriptional message lacking exons 16 and 17. Department of Biomedical Research, St. Elizabeth's Hospital of Boston, MA, 02135 USA. Autosomal recessive HS due to compound heterozygous defects in SPTA1 is typically severe and diagnosis based on phenotypic assays like RBC morphology, osmotic fragility or ektacytometry is complicated by transfusion dependence resulting in most of the circulating RBCs to be of donor origin. We describe a spectrin variant characterized by a truncated beta chain, and associated with hereditary spherocytosis and isolated spectrin deficiency. The common autosomal dominant form of hereditary spherocytosis (HS) has been genetically linked to defects of the erythroid ankyrin gene in a few families; however, the frequency of ankyrin deficiency and its relationship to red blood cell (RBC) spectrin content are unknown. We describe a spectrin variant characterized by a truncated beta chain, and associated with hereditary spherocytosis and isolated spectrin deficiency. Found inside Page 789 Severity Ankyrin Spherocytosis 4065% Dominant Mild to moderate Band 3 Spherocytosis 2035% Dominant Mild to moderate Southeast Asian Ovalocytosis -spectrin Spherocytosis 1530% Dominant Mild to moderate -spectrin Spherocytosis doi: https://doi.org/10.1182/blood.V87.6.2538.bloodjournal8762538. Hereditary Spherocytosis. 1-R01-AM29808-04/AM/NIADDK NIH HHS/United States. Found inside Page 44These proteins are referred to as ankyrin , spectrin , and protein band 4.1 . In cases of hereditary spherocytosis , spectrin deficiency is present in nearly all patients , and the degree of the deficiency correlates directly with the [Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity]. It is a chronic disease with no cure. 1986 Dec 18;315(25):1579-83. doi: 10.1056/NEJM198612183152504. In regard to the first group, only one mutation of beta spectrin has been reported in the literature. The common autosomal dominant form of hereditary spherocytosis (HS) has been genetically linked to defects of the erythroid ankyrin gene in a few families; however, the frequency of ankyrin deficiency and its relationship to red blood cell (RBC) spectrin content are unknown. No abstract provided. Each of these cases, when possible, has been also evaluated with ektacytometry and immunoblotting of RBC ghosts for alpha-spectrin quantitation. Found inside Page 524A B C D -Spectrin defect -Spectrin defect E Ankyrin Band 3 Protein 4.2 defect defect defect Figure 16-7 Red cell morphologic findings in hereditary spherocytosis (HS). A, Severe HS due to a homozygous -spectrin defect. II-spectrin promotes mouse brain connectivity through stabilizing axonal plasma membranes and enabling axonal organelle transport. This report represents an attempt to define the rate of beta-spectrin de novo mutations affecting mRNA accumulation in patients with hereditary spherocytosis (HS). At least 55 mutations in the ANK1 gene have been found to cause hereditary spherocytosis. Found inside Page 138Gallagher PG, Forget BG (1998) Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis. Blood Cells, Molecules and Diseases 24: 53943. Gallagher PG, Ferreira JDS, Costa FF et al. Using the single-stranded conformation polymorphism (SSCP) technique, we have undertaken to screen the coding region of the -spectrin gene in 40 families with hereditary spherocytosis associated with spectrin deficiency (including seven Mice with complete or nearly complete spectrin deficiency and severe spherocytosis caused by homozygous defects at the -spectrin (sph, sph ha, sph 2J, and sph 2BC mutations) or -spectrin (ja mutation) loci have roughly normal amounts of RBC ankyrin on SDS gels, 39, 40 as do humans with recessive HS and marked spectrin deficiency. Found inside Page 627Glycophorin A Band 3 Rh RhAG LW Band 3 -Spectrin 4.1R Glycophorin C/D Band 3 Band 3 p55 Actin -Spectrin Adducin Tropomodulin Tropomyosin 372:1411, 2008.) Erythrocyte Membrane Abnormalities in Hereditary TABLE 45.1 Spherocytosis, Maciag M, Plochocka D, Adamowicz-Salach A, Burzynska B. 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