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The Genetics Of Blood Disorders: Hereditary Hemoglobinopathies
Get PDFObjective: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-Thalassemias, the most relevant hereditary hemoglobinopathies in the global population. Sources: Searches were run on the MEDLINE and SCIELO databases, limited to the period from 2003 to May 2008, using the terms hereditary hemoglobinopathies, sickle cell diseases and β-thalassemia. Two books and two chapters were also included. Summary of the findings: More than 2,000 articles were identified; those providing the most important information and broadest views were selected. Conclusions: Morbidity and mortality rates from sickle cell diseases and β-thalassemia are still very high and represent an important challenge. Increased understanding of pathophysiological aspects has lead to significant improvements in treatment and prevention of these diseases. 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(2007) Free Radic Biol Med, 43, pp. 1469-1483Conran, N., Gambero, A., Ferreira, H.H., Antunes, E., de Nucci, G., Nitric oxide has a role in regulating VLA-4-integrin expression on the human neutrophil cell surface (2003) Biochem Pharmacol, 66, pp. 43-50Kaul, D.K., Liu, X.D., Chang, H.Y., Nagel, R.L., Fabry, M.E., Effect of fetal hemoglobin on microvascular regulation in sickle transgenic-knockout mice (2004) J Clin Invest, 114, pp. 1136-1145Steinberg, M.H., Predicting clinical severity in sickle cell anaemia (2005) Br J Haematol, 129, pp. 465-481Fathallah, H., Atweh, G.F., (2006) Induction of fetal hemoglobin in the treatment of sickle cell disease, pp. 58-62. , Hematology Am Soc Hematol Educ ProgramAdorno, E.V., Zanette, A., Lyra, I., Souza, C.C., Santos, L.F., Menezes, J.F., The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: A clinical and molecular view (2004) Hemoglobin, 28, pp. 267-271Hoppe, C., Klitz, W., Noble, J., Vigil, L., Vichinsky, E., Styles, L., Distinct HLA associations by stroke subtype in children with sickle cell anemia (2003) Blood, 101, pp. 2865-2869Sebastiani, P., Ramoni, M.F., Nolan, V., Baldwin, C.T., Steinberg, M.H., Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia (2005) Nat Genet, 37, pp. 435-440Castro, V., Alberto, F.L., Costa, R.N., Lepikson-Neto, J., Gualandro, S.F., Figueiredo, M.S., Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia (2004) Vox Sang, 87, pp. 118-123Steinberg, M.H., Adewoye, A.H., Modifier genes and sickle cell anemia (2006) Curr Opin Hematol, 13, pp. 131-136Kutlar, F., Diagnostic approach to hemoglobinopathies (2007) Hemoglobin, 31, pp. 243-250Colah, R.B., Surve, R., Sawant, P., D'Souza, E., Italia, K., Phanasgaonkar, S., HPLC studies in hemoglobinopathies (2007) Indian J Pediatr, 74, pp. 657-662Cremonesi, L., Ferrari, M., Giordano, P.C., Harteveld, C.L., 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Albuquerque, D.M., Saad, S.T., Costa, F.F., Conran, N., Therapy with hydroxyurea is associated with reduced adhesion molecule gene and protein expression in sickle red cells with a concomitant reduction in adhesive properties (2007) Eur J Haematol, 78, pp. 144-151Haynes Jr, J., Obiako, B., Hester, R.B., Baliga, B.S., Stevens, T., Hydroxyurea attenuates activated neutrophil-mediated sickle erythrocyte membrane phosphatidylserine exposure and adhesion to pulmonary vascular endothelium (2008) Am J Physiol Heart Circ Physiol, 294, pp. H379-H385Johnson, C., Telen, M.J., Adhesion molecules and hydroxyurea in the pathophysiology of sickle cell disease (2008) Haematologica, 93, pp. 481-485Moreira, L.S., de Andrade, T.G., Albuquerque, D.M., Cunha, A.F., Fattori, A., Saad, S.T., Costa, F.F., Identification of differentially expressed genes induced by hydroxyurea in reticulocytes from sickle cell anaemia patients (2008) Clin Exp Pharmacol Physiol, 35, pp. 651-655Fattori, A., de Souza, R.A., Saad, 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channel blocker, prevents sickled red blood cell dehydration in vitro and in vivo in SAD mice (2003) Blood, 101, pp. 2412-2418Mack, A.K., Kato, G.J., Sickle cell disease and nitric oxide: A paradigm shift? 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prediction, prevention and management (2008) Eur J Haematol, 80, pp. 93-106Weizer-Stern, O., Adamsky, K., Amariglio, N., Levin, C., Koren, A., Breuer, W., Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera (2006) Br J Haematol, 135, pp. 129-138Tanno, T., Bhanu, N.V., Oneal, P.A., Goh, S.H., Staker, P., Lee, Y.T., High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin (2007) Nat Med, 13, pp. 1096-1101Cohen, A.R., Galanello, R., Pennell, D.J., Cunningham, M.J., Vichinsky, E., (2004) Thalassemia, pp. 14-34. , Hematology Am Soc Hematol Educ ProgramAtaga, K.I., Cappellini, M.D., Rachmilewitz, E.A., Beta-thalassaemia and sickle cell anaemia as paradigms of hypercoagulability (2007) Br J Haematol, 139, pp. 3-13Panigrahi, I., Agarwal, S., Thromboembolic complications in beta-thalassemia: Beyond the horizon (2007) Thromb Res, 120, pp. 783-789Amer, J., Fibach, E., N-acetylcysteine amide, a novel cell-permeating thiol, restores cellular glutathione and protects human red blood cells from oxidative stress (2005) Free Radic Biol Med, 38, pp. 136-145Pattanapanyasat, K., Gonwong, S., Chaichompoo, P., Noulsri, E., Lerdwana, S., Sukapirom, K., Activated platelet-derived microparticles in thalassaemia (2007) Br J Haematol, 136, pp. 462-471Weinstein, B.I., Erramouspe, B., Albuquerque, D.M., Oliveira, D.M., Kimura, E.M., Costa, F.F., Hb Florida: A novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype (2006) Am J Hematol, 81, pp. 358-360Singh, S.P., Gupta, S., Molecular pathogenesis and clinical variability of homozygous beta 0-thalassemia in populations of Jammu region of J&K state (India) (2006) Hematology, 11, pp. 271-275Kimura, E.M., Grignoli, C.R., Pinheiro, V.R., Costa, F.F., Sonati, M.F., Thalassemia intermedia as a result of heterozygosis for beta 0-thalassemia and alpha alpha alpha anti-3,7 genotype in a Brazilian patient (2003) Braz J Med Biol Res, 36, pp. 699-701Bailey, L., Kuroyanagi, Y., Franco-Penteado, C.F., Conran, N., Costa, F.F., Ausenda, S., Expression of the gamma-globin gene is sustained by the cAMP-dependent pathway in beta-thalassaemia (2007) Br J Haematol, 138, pp. 382-395dos Santos, C.O., Costa, F.F., AHSP and beta-thalassemia: A possible genetic modifier (2005) Hematology, 10, pp. 157-161dos Santos, C.O., Zhou, S., Secolin, R., Wang, X., Cunha, A.F., Higgs, D.R., Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function (2008) Am J Hematol, 83, pp. 103-108Franchini, M., Veneri, D., Iron-chelation therapy: An update (2004) Hematol J, 5, pp. 287-292Pootrakul, P., Sirankapracha, P., Sankote, J., Kachintorn, U., Maungsub, W., Sriphen, K., Clinical trial of deferiprone iron chelation therapy in beta-thalassaemia/haemoglobin E patients in Thailand (2003) Br J Haematol, 122, pp. 305-310Tsironi, M., Deftereos, S., Andriopoulos, P., Farmakis, D., Meletis, J., Aessopos, A., Reversal of heart failure in thalassemia major by combined chelation therapy: A case report (2005) Eur J Haematol, 74, pp. 84-85Neufeld, E.J., Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: New data, new questions (2006) Blood, 107, pp. 3436-3441Choudhry, V.P., Naithani, R., Current status of iron overload and chelation with deferasirox (2007) Indian J Pediatr, 74, pp. 759-764Yang, L.P., Keam, S.J., Keating, G.M., Deferasirox: A review of its use in the management of transfusional chronic iron overload (2007) Drugs, 67, pp. 2211-2230Rivera, S., Nemeth, E., Gabayan, V., Lopez, M.A., Farshidi, D., Ganz, T., Synthetic hepcidin causes rapid dose-dependent hypoferremia and is concentrated in ferroportin-containing organs (2005) Blood, 106, pp. 2196-2199Higgs, D.R., (2004) Gene regulation in hematopoiesis: New lessons from thalassemia, pp. 1-13. , Hematology Am Soc Hematol Educ ProgramWeatherall, D.J., Thalassaemia: The long road from bedside to genome (2004) Nat Rev Genet, 5, pp. 625-631Quek, L., Thein, S.L., Molecular therapies in beta-thalassaemia (2007) Br J Haematol, 136, pp. 353-365Dissayabutra, T., Tosukhowong, P., Seksan, P., The benefits of vitamin C and vitamin E in children with beta-thalassemia with high oxi
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
β-spectrin São Pauloii, A Novel Frameshift Mutation Of The β-spectrin Gene Associated With Hereditary Spherocytes And Instability Of The Mutant Mrna
No full textHereditary spherocytosis (HS) is a common inherited anemia characterized by the presence of spherocytic red cells. Defects in several membrane protein genes have been involved in the pathogenesis of HS. β-Spectrin-related HS seems to be common. We report here a new mutation in the βs-spectrin gene coding region in a patient with hereditary spherocytosis. The patient presented acanthocytosis and spectrin deficiency and, at the DNA level, a novel frameshift mutation leading to HS, i.e., a C deletion at codon 1392 (β-spectrin São PauloII), exon 20. The mRNA encoding β-spectrin São PauloII was very unstable and the mutant protein was not detected in the membrane or in other cellular compartments. It is interesting to note that frameshift mutations of the β-spectrin gene at the 3′ end allow the insertion of the mutant protein in the red cell membrane, leading to a defect in the auto-association of the spectrin dimers and consequent elliptocytosis. On the other hand, β-spectrin São PauloII protein was absent in the red cell membrane, leading to spectrin deficiency, HS and the presence of acanthocytes.358921925Lux, S.E., Palek, J., Disorders of the red cell membrane (1995) Blood Principles and Practice of Hematology, pp. 1701-1818. , Handlin RI, Lux SE & Stossel TP (Editors), JB Lippincott, Philadelphia, PA, USAGallagher, P.G., Forget, B.G., Lux, S.E., Disorders of the erythrocyte membrane (1998) Hematology of Infancy and Childhood, 1, pp. 544-664. , Nathan DG & Orkin SH (Editors), 5th edn. Saunders, Philadelphia, PA, USATse, W.T., Lux, S.E., Red blood cell membrane disorders (1999) British Journal of Haematology, 104, pp. 2-13Becker, P.S., Tse, W.T., Lux, S.E., Forget, B.G., β-spectrin Kissimmee: A spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1 (1993) Journal of Clinical Investigation, 92, pp. 612-616Hassoun, H., Vassiliadis, J.N., Murray, J., Yi, S.J., Hanspal, M., Ware, R.E., Winter, S.S., Palek, J., Molecular basis of spectrin deficiency in β spectrin Durham (1995) Journal of Clinical Investigation, 96, pp. 2623-2629Hassoun, H., Vassiliadis, J.N., Murray, J., Yi, S.J., Hanspal, M., Johnson, C.A., Palek, J., Hereditary spherocytosis with spectrin deficiency due to an unstable truncated β spectrin (1996) Blood, 87, pp. 2538-2545Hassoun, H., Vassiliadis, J.N., Murray, J., Njolstad, P.R., Rogus, J.J., Ballas, S.K., Schaffer, F., Palek, J., Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency (1997) Blood, 90, pp. 398-406Garbarz, M., Galand, C., Bibas, D., Bournier, O., Devaux, I., Harousseau, J.-L., Grandchamp, B., Dhermy, D., A 5′ splice region G→C mutation in exon 3 of the human β-spectrin gene leads to decreased levels of β-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao) (1998) British Journal of Haematology, 100, pp. 90-98Bassères, D.S., Vicentim, D.L., Costa, F.F., Saad, S.T.O., Hassoun, H., β-spectrin Promissão: A translation initiation codon mutation of the β-spectrin gene (ATG→GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family (1998) Blood, 91, pp. 368-369Fairbanks, G., Steck, T.L., Wallach, D.F.H., Electrophoretic analysis of the human erythrocyte membrane (1971) Biochemistry, 10, pp. 2606-2614Dodge, J.T., Mitchell, C., Hanahan, D.J., The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes (1963) Archives of Biochemistry and Biophysics, 100, pp. 119-130Towbin, H., Staehelin, J.T., Gordon, J., Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications (1979) Proceedings of the National Academy of Sciences, USA, 76, pp. 4350-4354Saiki, R.K., Geelfond, D.H., Stoffel, S., Scharf, S.J., Higuchi, R., Horn, G.T., Mullis, K.B., Erlich, H.Á., Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase (1988) Science, 239, pp. 487-491Kan, Y.W., Holand, J.P., Dozy, A.M., Varmus, H.E., Demonstration of non-functional β-globin mRNA in homozygous β0-thalassemia (1975) Proceedings of the National Academy of Sciences, USA, 72, pp. 5140-5144Bassères, D.S., Duarte, A.S.S., Hassoun, H., Costa, F.F., Saad, S.T.O., β-spectrin Sta Barbara: A novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism (2001) British Journal of Haematology, 115, pp. 347-353Dhermy, D., Galand, C., Bournier, O., Cynober, T., Mechinaud, F., Tchemia, G., Garbarz, M., Hereditary spherocytosis with spectrin deficiency related to null mutations of the β-spectrin gene (1998) Blood Cells, Molecules, and Diseases, 24, pp. 251-261Miraglia del Giudice, E., Lombardi, C., Francese, M., Nobili, B., Conte, M.L., Amendola, G., Cutillo, S., Perrotta, S., Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency (1998) British Journal of Haematology, 101, pp. 251-254Garbarz, M., Tse, W.T., Gallagher, P.G., Picat, C., Lecomte, M.C., Galibert, E., Dhermy, D., Forget, B.G., Spectrin Rouen (β220/218) a novel shortened β-chain variant in a kindred with hereditary elliptocytosis: Characterization of the molecular defect as exon skipping due to a splice site mutation (1991) Journal of Clinical Investigation, 88, pp. 76-81Tse, W.T., Gallagher, P.G., Pothier, B., Costa, F.F., Scarpa, A., Delaunay, J., Forget, B.G., An insertional frameshift mutation of the β-spectrin gene associated with elliptocytosis in spectrin Nice (β220/216) (1991) Blood, 78, pp. 517-523Bassères, D.S., Pranke, P.H.L., Sales, T.S.I., Costa, F.F., Saad, S.T.O., β-spectrin Campinas: A novel shortened β-chain variant associated with skipping of exon 30 and hereditary elliptocytosis (1997) British Journal of Haematology, 97, pp. 579-58
Mild Clinical Expression Of S-β Thalassemia In A Brazilian Patient With The β+ Ivs-i-6 (t→c) Mutation
No full textWe report on an eight-year-old Brazilian girl with S-β+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of β-globin gene showed her to be heterozygous for the IVS-I-6 (T→C) mutation. This β+ thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C→T polymorphism at codon 2. In combination with the β(s) gene, this mutation results in very mild sickle cell disease symptoms.214431433Antonarakis, S.E., Orkin, S.H., Cheng, T.C., Scott, A.F., Sexton, J.P., Trusko, S., Charache, S., Kazazian Jr., H.H., β Thalassemia in American blacks: Novel mutations in the "TATA" box and an acceptor splice site (1984) Proc. Natl. Acad. Sci. USA, 81, pp. 1154-1158Atweh, G., Forget, B.G., Identification of a β-thalassemia mutation associated with a novel haplotype of RFLPs (1986) Am. J. Hum. Genet., 38, pp. 855-859Baysal, E., Huisman, T.H.J., Detection of common deletional α-thalassemia-2 determinants by PCR (1994) Am. J. Hematol., 46, pp. 208-213Bunn, H.F., Forget, B.G., (1986) Hemoglobin: Molecular, Genetic and Clinical Aspects, , W.B. Saunders Company, PhiladelphiaMartins, C.S.B., Ramalho, A.S., Sonati, M.F., Gonçalves, M.S., Costa, F.F., Molecular characterisation of β thalassaemia heterozygotes in Brazil (1993) J. Med. Genet., 30, pp. 797-798Orkin, S.H., Kazazian Jr., H.H., Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G., Giardina, P.J.V., Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster (1982) Nature, 296, pp. 627-631Treisman, R., Orkin, S.H., Maniatis, T., Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes (1983) Nature, 302, pp. 591-596Weatherall, D.J., Clegg, J.B., (1981) The Thalassaemia Syndromes. 3rd Edn., , Blackwell Scientific Publications, OxfordZago, M.A., Costa, F.F., Freitas, T.C., Bottura, C., Clinical, hematological and genetic features of sickle cell anemia and sickle cell-beta thalassemia in a Brazilian population (1980) Clin. Genet., 18, pp. 58-6
Hemoglobin Disorders And Endothelial Cell Interactions
No full textEndothelial damage and inflammation make a significant contribution to the pathophysiology of sickle cell disease (SCD) and the β-thalassemia syndromes. Endothelial dysfunction and ensuing vasculopathy are implicated in pulmonary hypertension in the hemoglobinopathies and endothelial activation and endothelial-blood cell adhesion, accompanied by inflammatory processes and oxidative stress, are imperative to the vaso-occlusive process in SCD. Herein, we discuss the role that the endothelium plays in all of these processes and the effect that genetic modifiers and hydroxyurea therapy may have upon endothelial interactions. Therapies targeting the endothelium and endothelial interactions may represent a promising approach for treating these diseases. © 2009 The Canadian Society of Clinical Chemists.421818241838Galley, H.F., Webster, N.R., Physiology of the endothelium (2004) Br. J. 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Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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