Table of Contents Author Guidelines Submit a Manuscript
TheScientificWorldJOURNAL
Volume 9, Pages 46-67
http://dx.doi.org/10.1100/tsw.2009.10
Review Article

Genetic Etiologies for Phenotypic Diversity in Sickle Cell Anemia

Laboratory Medicine, Boston University School of Medicine, 72 E. Concord Street, Boston, MA 02118, USA

Received 7 August 2008; Revised 19 December 2008; Accepted 6 January 2009

Academic Editor: Susan Perrine

Copyright © 2009 Martin H. Steinberg.

Citations to this Article [98 citations]

The following is the list of published articles that have cited the current article.

  • Sonu Acharya, “Oral and Dental Considerations in Management of Sickle Cell Anemia.,” International journal of clinical pediatric dentistry, vol. 8, no. 2, pp. 141–4, . View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, Lucieni O Conterno, and Jennifer M Knight-MaddenCochrane Database of Systematic Reviews, 2007. View at Publisher · View at Google Scholar
  • Xiao Yan Zhong, and Wolfgang Holzgreve, “MALDI-TOF MS in Prenatal Genomics,” Transfusion Medicine and Hemotherapy, vol. 36, no. 4, pp. 263–272, 2009. View at Publisher · View at Google Scholar
  • J.-B. Arlet, P. Bartolucci, A. Habibi, J.-A. Ribeil, K. Stankovic, and F. Lionnet, “L’anémie chez le patient drépanocytaire adulte,” La Revue de Médecine Interne, vol. 30, pp. S319–S322, 2009. View at Publisher · View at Google Scholar
  • Greg M. Vercellotti, Robert P. Hebbel, and Karl A. Nath, “A systems biology consideration of the vasculopathy of sickle cell anemia: The need for multi-modality chemo-prophylaxis,” Cardiovascular and Hematological Disorders - Drug Targets, vol. 9, no. 4, pp. 271–292, 2009. View at Publisher · View at Google Scholar
  • Jungshan Chang, John T. Patton, Arun Sarkar, Beat Ernst, John L. Magnani, and Paul S. Frenette, “GMI-1070, a novel pan-selectin antagonist, reverses acute vascular occlusions in sickle cell mice,” Blood, vol. 116, no. 10, pp. 1779–1786, 2010. View at Publisher · View at Google Scholar
  • Rosalba Di Marzo, Roberta Calzolari, Deborah Rund, and Aurelio MaggioEncyclopedia of Life Sciences, 2010. View at Publisher · View at Google Scholar
  • Barbosa, Goncalves-Santos, Souza-Ribeiro, Moura-Neto, Takahashi, Silva, Hurtado-Guerrero, Reis, and Goncalves, “Promoter region sequence differences in the A and G gamma globin genes of Brazilian sickle cell anemia patients,” Brazilian Journal of Medical and Biological Research, vol. 43, no. 8, pp. 705–711, 2010. View at Publisher · View at Google Scholar
  • Kleber Yotsumoto Fertrin, and Fernando Ferreira Costa, “Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment,” Expert Review of Hematology, vol. 3, no. 4, pp. 443–458, 2010. View at Publisher · View at Google Scholar
  • Brady L. Stein, and Moliterno Alison R, “Primary myelofibrosis and the myeloproliferative neoplasms: The role of individual variation,” JAMA - Journal of the American Medical Association, vol. 303, no. 24, pp. 2513–2518, 2010. View at Publisher · View at Google Scholar
  • Thomas Blicher, Ramneek Gupta, Agata Wesolowska, Lars Juhl Jensen, and Søren Brunak, “Protein annotation in the era of personal genomics,” Current Opinion in Structural Biology, vol. 20, no. 3, pp. 335–341, 2010. View at Publisher · View at Google Scholar
  • Jane M. Benson, and Bradford L. Therrell, “History and Current Status of Newborn Screening for Hemoglobinopathies,” Seminars in Perinatology, vol. 34, no. 2, pp. 134–144, 2010. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, Maria José Martinez-Zapata, and Jennifer M Knight-MaddenCochrane Database of Systematic Reviews, 2010. View at Publisher · View at Google Scholar
  • Edis Belini Junior, Rodolfo D. Cancado, and Claudia R. B. Domingos, “The Xmnl polymorphic site 5 ' to the gene G gamma in a Brazilian patient with sickle cell anaemia - fetal haemoglobin concentration, haematology and clinical features,” Archives Of Medical Science, vol. 6, no. 5, pp. 822–825, 2010. View at Publisher · View at Google Scholar
  • Andre Rolim Belisario, Cibele Velloso Rodrigues, Marina Lobato Martins, Celia Maria Silva, and Marcos Borato Viana, “COINHERITANCE OF alpha-THALASSEMIA DECREASES THE RISK OF CEREBROVASCULAR DISEASE IN A COHORT OF CHILDREN WITH SICKLE CELL ANEMIA,” Hemoglobin, vol. 34, no. 6, pp. 516–529, 2010. View at Publisher · View at Google Scholar
  • Luis F. Guzman, Francisco J. Perea, Maria T. Magana, Karina R. Morales-Gonzalez, M. Luz Chavez-Velazco, and Bertha Ibarra, “Hb S [beta 6(A3) Glu -> Val, GAG > GTG] IN MEXICAN MESTIZOS: FREQUENCY AND ANALYSIS OF THE 5 ' beta-GLOBIN HAPLOTYPE,” Hemoglobin, vol. 34, no. 6, pp. 509–515, 2010. View at Publisher · View at Google Scholar
  • Paola Sebastiani, Nadia Solovieff, Stephen W. Hartley, Jacqueline N. Milton, Alberto Riva, Daniel A. Dworkis, Efthymia Melista, Elizabeth S. Klings, Melanie E. Garrett, Marilyn J. Telen, Allison Ashley-Koch, Clinton T. Baldwin, and Martin H. Steinberg, “Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study,” American Journal Of Hematology, vol. 85, no. 1, pp. 29–35, 2010. View at Publisher · View at Google Scholar
  • Andre Rolim Belisario, Marina Lobato Martins, Ana Mercy Siebra Brito, Cibele Velloso Rodrigues, Celia Maria Silva, and Marcos Borato Viana, “beta-Globin Gene Cluster Haplotypes in a Cohort of 221 Children with Sickle Cell Anemia or S beta(0)-Thalassemia and Their Association with Clinical and Hematological Features,” Acta Haematologica, vol. 124, no. 3, pp. 162–170, 2010. View at Publisher · View at Google Scholar
  • Edis Belini Junior, Danilo Grünig Humberto Silva, Lidiane Souza Torres, Eduardo Alves Almeida, Rodolfo Delfini Cancado, Carlos Chiattone, and Claudia Regina Bonini-Domingos, “Oxidative stress and antioxidant capacity in sickle cell anaemia patients receiving different treatments and medications for different periods of time,” Annals of Hematology, vol. 91, no. 4, pp. 479–489, 2011. View at Publisher · View at Google Scholar
  • Gisele Cristine de Souza Carrocini, Paula Juliana Antoniazzo Zamaro, and Claudia Regina Bonini-Domingos, “What influences Hb fetal production in adulthood?,” Revista Brasileira de Hematologia e Hemoterapia, vol. 33, no. 3, pp. 231–236, 2011. View at Publisher · View at Google Scholar
  • Davoud Mohtat, Rosemary Thomas, Zangfang Du, Yaa Boakye, Thomas Moulton, Catherine Driscoll, and Robert Woroniecki, “Urinary transforming growth factor beta-1 as a marker of renal dysfunction in sickle cell disease,” Pediatric Nephrology, vol. 26, no. 2, pp. 275–280, 2011. View at Publisher · View at Google Scholar
  • Chisato Shimizu, Sonia Jain, Sonia Davila, Martin L. Hibberd, Kevin O. Lin, Delaram Molkara, Jeffrey R. Frazer, Shelly Sun, Annette L. Baker, Jane W. Newburger, Anne H. Rowley, Stanford T. Shulman, Sonia Davila, David Burgner, Willemijn B. Breunis, Taco W. Kuijpers, Victoria J. Wright, Michael Levin, Hariklia Eleftherohorinou, Lachlan Coin, Stephen J. Popper, David A. Relman, Wen Fury, Calvin Lin, Scott Mellis, Adriana H. Tremoulet, and Jane C. Burns, “Transforming Growth Factor-beta Signaling Pathway in Patients With Kawasaki Disease,” Circulation-Cardiovascular Genetics, vol. 4, no. 1, pp. 16–U99, 2011. View at Publisher · View at Google Scholar
  • David C. Rees, and John S. Gibson, “Biomarkers in sickle cell disease,” British Journal of Haematology, vol. 156, no. 4, pp. 433–445, 2011. View at Publisher · View at Google Scholar
  • C. Cajado, B.A.V. Cerqueira, F.D. Couto, J.P. Moura-Neto, W. Vilas-Boas, M.J. Dorea, I.M. Lyra, C.G. Barbosa, M.G. Reis, and M.S. Goncalves, “TNF-alpha and IL-8: Serum levels and gene polymorphisms (−308G>A and −251A>T) are associated with classical biomarkers and medical history in children with sickle cell anemia,” Cytokine, vol. 56, no. 2, pp. 312–317, 2011. View at Publisher · View at Google Scholar
  • Katherine L. Ender, Margaret T. Lee, Sujit Sheth, Maureen Licursi, Jennifer Crotty, Sandra Barral, and Nancy S. Green, “Fetal Hemoglobin Levels in African American and Hispanic Children With Sickle Cell Disease at Baseline and in Response to Hydroxyurea,” Journal Of Pediatric Hematology Oncology, vol. 33, no. 7, pp. 496–499, 2011. View at Publisher · View at Google Scholar
  • Swee Lay Thein, “Genetic Modifiers of Sickle Cell Disease,” Hemoglobin, vol. 35, no. 5-6, pp. 589–606, 2011. View at Publisher · View at Google Scholar
  • W. R. Smith, and M. Scherer, “Sickle-Cell Pain: Advances in Epidemiology and Etiology,” Hematology, vol. 2010, no. 1, pp. 409–415, 2011. View at Publisher · View at Google Scholar
  • A. Hannemann, E. Weiss, D. C. Rees, S. Dalibalta, J. C. Ellory, and J. S. Gibson, “The Properties of Red Blood Cells from Patients Heterozygous for HbS and HbC (HbSC Genotype),” Anemia, vol. 2011, pp. 1–8, 2011. View at Publisher · View at Google Scholar
  • G.C.S. Carrocini, L.S. Ondei, P.J.A. Zamaro, and C.R. Bonini-Domingos, “Evaluation of HPFH and δβ-thalassemia mutations in a Brazilian group with high Hb F levels,” Genetics and Molecular Research, vol. 10, no. 4, pp. 3213–3219, 2011. View at Publisher · View at Google Scholar
  • Martin H. Steinberg, and Paola Sebastiani, “Genetic modifiers of sickle cell disease,” American Journal of Hematology, vol. 87, no. 8, pp. 795–803, 2012. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, Jennifer M Knight-Madden, and Maria José Martinez-ZapataCochrane Database of Systematic Reviews, 2012. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, and Lucieni O ConternoCochrane Database of Systematic Reviews, 2012. View at Publisher · View at Google Scholar
  • Andreia Coelho, Alexandra Dias, Anabela Morais, Baltazar Nunes, Paula Faustino, and João Lavinha, “Sickle cell disease severity scoring: a yet unsolved problem,” European Journal of Haematology, vol. 89, no. 6, pp. 501–502, 2012. View at Publisher · View at Google Scholar
  • Stephen H. Embury, “Age-dependent changes in the membrane surface area: sickle red blood cell volume may account for differential clinical effects of coinherited α thalassemia on sickle cell anemia,” European Journal of Haematology, vol. 88, no. 4, pp. 363–364, 2012. View at Publisher · View at Google Scholar
  • Samir K. Ballas, Muge R. Kesen, Morton F. Goldberg, Gerard A. Lutty, Carlton Dampier, Ifeyinwa Osunkwo, Winfred C. Wang, Carolyn Hoppe, Ward Hagar, Deepika S. Darbari, and Punam Malik, “Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management,” The Scientific World Journal, vol. 2012, pp. 1–55, 2012. View at Publisher · View at Google Scholar
  • Martin H. Steinberg, “Sickle Cell Disease and Other Hemoglobinopathies,” Goldman's Cecil Medicine, pp. 1066–1075, 2012. View at Publisher · View at Google Scholar
  • Akram Asbeutah, Renu Gupta, Osama Al-Saeid, Sam Ashebu, Sundus Al-Sharida, Ali Mullah-Ali, Nada Yousef Mustafa, and Adekunle Adekile, “Transcranial doppler and brain MRI in children with sickle cell disease and high hemoglobin F levels,” Pediatric Blood & Cancer, 2013. View at Publisher · View at Google Scholar
  • Fernanda Marconi Roversi, Anderson Ferreira da Cunha, Ana Flávia Brugnerotto, Marcelo Falsarella Carazzolle, Dulcinéia Martins de Albuquerque, Carolina Lanaro, João Agostinho Machado-Neto, Sara Teresinha Olalla Saad, and Fernando Ferreira da Costa, “Gene Expression Analysis of the Brazilian Type of Hereditary Persistence of Fetal Hemoglobin: Identification of Genes that Could be Related to γ-Globin Activation,” Hemoglobin, pp. 1–34, 2013. View at Publisher · View at Google Scholar
  • Danilo Grunig Humberto Silva, Edis Belini Junior, Gisele Cristine de Souza Carrocini, Lidiane de Souza Torres, Octavio Ricci Junior, Clarisse Lopes de Castro Lobo, Claudia Regina Bonini-Domingos, and Eduardo Alves de Almeida, “Genetic and biochemical markers of hydroxyurea therapeutic response in sickle cell anemia,” Bmc Medical Genetics, vol. 14, 2013. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, Lucieni O Conterno, and Jennifer M Knight-MaddenCochrane Database of Systematic Reviews, 2013. View at Publisher · View at Google Scholar
  • Harshada K. Kangne, Farah F. Jijina, Yazdi M. Italia, Dipti L. Jain, Anita H. Nadkarni, Maya Gupta, Vandana Pradhan, Rati D. Mukesh, Kanjaksha K. Ghosh, and Roshan B. Colah, “The Fc Receptor Polymorphisms and Expression of Neutrophil Activation Markers in Patients with Sickle Cell Disease from Western India,” BioMed Research International, vol. 2013, pp. 1–7, 2013. View at Publisher · View at Google Scholar
  • M. Hasaneen Bothina, “GSTM1 and GSTT1 Polymorphism in Egyptian Sickle Cell Anemia Patients,” Uhod-Uluslararasi Hematoloji-Onkoloji Dergisi, vol. 23, no. 4, pp. 269–275, 2013. View at Publisher · View at Google Scholar
  • Cristian Fong, María Alejandra Lizarralde-Iragorri, Diana Rojas-Gallardo, and Guillermo Barreto, “Frequency and origin of haplotypes associated with the beta-globin gene cluster in individuals with trait and sickle cell anemia in the Atlantic and Pacific coastal regions of Colombia,” Genetics and Molecular Biology, vol. 36, no. 4, pp. 494–497, 2013. View at Publisher · View at Google Scholar
  • S.M. Hassan, M. Al Muslahi, M. Al Riyami, E. Bakker, C.L. Harteveld, and P.C. Giordano, “Sickle cell anemia and α-thalassemia: A modulating factor in homozygous HbS/S patients in Oman,” European Journal of Medical Genetics, 2014. View at Publisher · View at Google Scholar
  • Antonio Carlos Bueno Filho, Landulfo Silveira, Ana Leticia Sant’Anna Yanai, and Adriana Barrinha Fernandes, “Raman spectroscopy for a rapid diagnosis of sickle cell disease in human blood samples: a preliminary study,” Lasers in Medical Science, 2014. View at Publisher · View at Google Scholar
  • Roshan Colah, Malay Mukherjee, and Kanjaksha Ghosh, “Sickle cell disease in India,” Current Opinion in Hematology, vol. 21, no. 3, pp. 215–223, 2014. View at Publisher · View at Google Scholar
  • D. B. Sanders, B. P. Smith, S. R. Sowell, D. H. Nguyen, C. Derby, F. Eshun, and J. J. Nigro, “Sickle cell disease and complex congenital cardiac surgery: a case report and review of the pathophysiology and perioperative management,” Perfusion-Uk, vol. 29, no. 2, pp. 153–158, 2014. View at Publisher · View at Google Scholar
  • Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, and Marina Kleanthous, “Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach,” Bmc Genomics, vol. 15, 2014. View at Publisher · View at Google Scholar
  • Igor F. Domingos, Diego A. Falcão, Betania L. Hatzlhofer, Anderson F. Cunha, Magnun N. Santos, Dulcinéia M. Albuquerque, Kleber Y. Fertrin, Fernando F. Costa, Renata C. Azevedo, Cíntia G. Machado, Aderson S. Araújo, Antonio R. Lucena-Araujo, and Marcos A. Bezerra, “Influence of the βs haplotype and α-thalassemia on stroke development in a Brazilian population with sickle cell anaemia,” Annals of Hematology, 2014. View at Publisher · View at Google Scholar
  • Izabel C.J. Bandeira, Lillianne B.S. Rocha, Maritza C. Barbosa, Darcielle B.D. Elias, José A.N. Querioz, Max Vitor Carioca Freitas, and Romélia P. Gonçalves, “Chronic inflammatory state in sickle cell anemia patients is associated with HBB*S haplotype,” Cytokine, vol. 65, no. 2, pp. 217–221, 2014. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, and Daniel Simancas-RacinesCochrane Database of Systematic Reviews, 2014. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, Jennifer M Knight-Madden, and Maria José Martinez-ZapataCochrane Database of Systematic Reviews, 2014. View at Publisher · View at Google Scholar
  • Marilda Gonçalves, and Ana Paula Almeida de Souza Pacheco, “Klotho: its various functions and association with sickle cell disease subphenotypes,” Revista Brasileira de Hematologia e Hemoterapia, 2014. View at Publisher · View at Google Scholar
  • Sebag, Stephan Dunker, and W. Richard Greenpp. 347–373, 2014. View at Publisher · View at Google Scholar
  • Titilope Adeyemo, Oyesola Ojewunmi, and Ajoke Oyetunji, “Evaluation of high performance liquid chromatography (HPLC) pattern and prevalence of beta-thalassaemia trait among sickle cell disease patients in Lagos, Nigeria,” Pan African Medical Journal, vol. 18, 2014. View at Publisher · View at Google Scholar
  • Akila Venkataraman, and Robert J. Adams, “Neurologic complications of sickle cell disease,” Neurologic Aspects of Systemic Disease Part II, vol. 120, pp. 1015–1025, 2014. View at Publisher · View at Google Scholar
  • Edis Belini Junior, Danilo Grünig Humberto Silva, Lidiane de Souza Torres, Jéssika Viviani Okumura, Clarisse Lopes de Castro Lobo, and Claudia Regina Bonini-Domingos, “Severity of Brazilian sickle cell disease patients: Severity scores and feasibility of the Bayesian network model use,” Blood Cells, Molecules, and Diseases, vol. 54, no. 4, pp. 321–327, 2015. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, and Daniel Simancas-RacinesCochrane Database of Systematic Reviews, 2015. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, Lucieni O Conterno, and Jennifer M Knight-MaddenCochrane Database of Systematic Reviews, 2015. View at Publisher · View at Google Scholar
  • Gregory J. Kato, “Defective Nitric Oxide Metabolism in Sickle Cell Disease,” Pediatric Blood & Cancer, vol. 62, no. 3, pp. 373–374, 2015. View at Publisher · View at Google Scholar
  • Valentina J. Ngo Bitoungui, Gift D. Pule, Neil Hanchard, Jeanne Ngogang, and Ambroise Wonkam, “Beta-Globin Gene Haplotypes Among Cameroonians and Review of the Global Distribution: Is There a Case for a Single Sickle Mutation Origin in Africa?,” OMICS: A Journal of Integrative Biology, vol. 19, no. 3, pp. 171–179, 2015. View at Publisher · View at Google Scholar
  • Harshada K. Kangne, Farah F. Jijina, Yazdi M. Italia, Dipti L. Jain, Anita H. Nadkarni, Kanjaksha K. Ghosh, and Roshan B. Colah, “The Prevalence of Factor V Leiden (G1691A) and Methylenetetrahydrofolate Reductase C677T Mutations in Sickle Cell Disease in Western India,” Clinical And Applied Thrombosis-Hemostasis, vol. 21, no. 2, pp. 186–189, 2015. View at Publisher · View at Google Scholar
  • J. Gibson, H. Al-Balushi, A. Hanneman, and D. Rees, “Sickle Cell Disease And 5-Hmf: The Search For Effective Treatments,” Drugs Of The Future, vol. 40, no. 12, pp. 817–826, 2015. View at Publisher · View at Google Scholar
  • Ghazi A. Damanhouri, Jummanah Jarullah, Samy Marouf, S. I. Hindawi, Gohar Mushtaq, and Mohammad A. Kamal, “Clinical biomarkers in sickle cell disease,” Saudi Journal Of Biological Sciences, vol. 22, no. 1, pp. 24–31, 2015. View at Publisher · View at Google Scholar
  • Gift D. Pule, Shaheen Mowla, Nicolas Novitzky, Charles S. Wiysonge, and Ambroise Wonkam, “A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease,” Expert Review Of Hematology, vol. 8, no. 5, pp. 669–679, 2015. View at Publisher · View at Google Scholar
  • Gisele Cristine de Souza Carrocini, Larissa Paola Rodrigues Venancio, and Claudia Regina Bonini-Domingos, “Screening of Transcription Factors Involved in Fetal Hemoglobin Regulation Using Phylogenetic Footprinting,” Evolutionary Bioinformatics, vol. 11, pp. 239–244, 2015. View at Publisher · View at Google Scholar
  • Marcos André Cavalcanti Bezerra, Moacyr Jesus Barreto Melo De Rego, Patrícia Moura, Andreia Soares Da Silva, Fernanda Silva Medeiros, Betânia Lucena Domingues Hatzlhofer, Maíra Galdino Da Rocha Pitta, Taciana Furtado Mendonça De Belmont, Aderson Da Silva Araújo, Maria Do Socorro Mendonça Cavalcanti, Kleyton Palmeira Do Ó, Kamila Melo De Vilar, Luydson Richardson Silva Vasconcelos, and Ana Claudia Mendonça Dos Anjos, “Single nucleotide polymorphisms at +191 and +292 of galectin-3 gene (LGALS3) related to lower GAL-3 serum levels are associated with frequent respiratory tract infection and vaso-occlusive crisis in children with sickle cell Anemia,” PLoS ONE, vol. 11, no. 9, 2016. View at Publisher · View at Google Scholar
  • Danilo da Silva, Edis Junior, Claudia Bonini-Domingos, and Eduardo de Almeida, “Oxidative Stress and Sickle Cell Disease,” Reactive Oxygen Species in Biology and Human Health, pp. 335–347, 2016. View at Publisher · View at Google Scholar
  • Maria Stella Figueiredo, “Comments on: “Clinical, hematological and genetic data of a cohort of children with hemoglobin SD”,” Revista Brasileira de Hematologia e Hemoterapia, 2016. View at Publisher · View at Google Scholar
  • Bruno Deltreggia Benites, Stephany Oliveira Bastos, Gabriel Baldanzi, Allan de Oliveira dos Santos, Celso Dario Ramos, Fernando Ferreira Costa, Simone Cristina Olenscki Gilli, and Sara Teresinha Olalla Saad, “ Sickle cell/β-thalassemia: Comparison of Sβ 0 and Sβ + Brazilian patients followed at a single institution ,” Hematology, pp. 1–7, 2016. View at Publisher · View at Google Scholar
  • C. Fonseca, F. Marques, A. Robalo Nunes, A. Belo, D. Brilhante, and J. Cortez, “Prevalence of anaemia and iron deficiency in Portugal: the EMPIRE study,” Internal Medicine Journal, vol. 46, no. 4, pp. 470–478, 2016. View at Publisher · View at Google Scholar
  • Gift Dineo Pule, Shaheen Mowla, Nicolas Novitzky, and Ambroise Wonkam, “Hydroxyurea down-regulates BCL11A, KLF-1 and MYB through miRNA-mediated actions to induce γ-globin expression: implications for new therapeutic approaches of sickle cell disease,” Clinical and Translational Medicine, vol. 5, no. 1, 2016. View at Publisher · View at Google Scholar
  • Lidiane de Souza Torres, Jéssika Viviani Okumura, Danilo Grünig Humberto da Silva, Édis Belini Júnior, Renan Garcia de Oliveira, Kallyne Kioko Oliveira Mimura, Clarisse Lopes de Castro Lobo, Sonia Maria Oliani, and Claudia Regina Bonini Domingos, “Plasma levels of TGF-β1 in homeostasis of the inflammation in sickle cell disease,” Cytokine, vol. 80, pp. 18–25, 2016. View at Publisher · View at Google Scholar
  • Mauno Vihinen, “How to Define Pathogenicity, Health, and Disease?,” Human Mutation, vol. 38, no. 2, pp. 129–136, 2016. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, and Lucieni O. Conterno, “Antibiotics for treating community-acquired pneumonia in people with sickle cell disease,” Cochrane Database of Systematic Reviews, vol. 2016, no. 11, 2016. View at Publisher · View at Google Scholar
  • Jéssika V. Okumura, Danilo G. H. Silva, Renan G. Oliveira, Clarisse L. C. Lobo, Sonia M. Oliani, Claudia R. Bonini-Domingos, Lidiane S. Torres, Kallyne K. O. Mimura, and Édis Belini, “Inflammation in sickle cell disease: Differential and down-expressed plasma levels of annexin A1 protein,” PLoS ONE, vol. 11, no. 11, 2016. View at Publisher · View at Google Scholar
  • Jandrice Carrasco, Luanne Lisle, Marilda Castelar, and Marcos Almeida-Matos, “Avascular necrosis of the femoral head in sickle cell disease in pediatric patients suffering from hip dysfunction,” Revista de Salud Publica, vol. 18, no. 6, pp. 986–995, 2016. View at Publisher · View at Google Scholar
  • Sandrine C. Wagner, Simone M. de Castro, Mara H. Hutz, and Juliana D. Lindenau, “The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes,” Genetics and Molecular Biology, vol. 39, no. 4, pp. 515–523, 2016. View at Publisher · View at Google Scholar
  • Lidiane S. Torres, Jéssika V. Okumura, Édis Belini-Júnior, Renan G. Oliveira, Patrícia P. Nascimento, Danilo G.H. Silva, Clarisse L.C. Lobo, Sonia M. Oliani, and Claudia R. Bonini-Domingos, “Phenotypic Diversity of Sickle Cell Disease in Patients with a Double Heterozygosity for Hb S and Hb D-Punjab,” Hemoglobin, pp. 1–3, 2016. View at Publisher · View at Google Scholar
  • Swee Lay Thein, and Kate Gardnerpp. 371–398, 2016. View at Publisher · View at Google Scholar
  • Sfc Souza, Hlcc de Carvalho, Cps Costa, and Ebaf Thomaz, “Association of sickle cell haemoglobinopathies with dental and jaw bone abnormalities,” Oral Diseases, 2017. View at Publisher · View at Google Scholar
  • Milena Magalhães Aleluia, Teresa Cristina Cardoso Fonseca, Regiana Quinto Souza, Fábia Idalina Neves, Caroline Conceição da Guarda, Rayra Pereira Santiago, Bruna Laís Almeida Cunha, Camylla Villas Boas Figueiredo, Sânzio Silva Santana, Silvana Sousa da Paz, Júnia Raquel Dutra Ferreira, Bruno Antônio Veloso Cerqueira, and Marilda de Souza Gonçalves, “Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles,” BMC Hematology, vol. 17, no. 1, 2017. View at Publisher · View at Google Scholar
  • Marie Dubert, Jacques Elion, Aissata Tolo, Dapa Aly Diallo, Saliou Diop, Ibrahima Diagne, Ibrahima Sanogo, Suzanne Belinga, Odette Guifo, Guillaume Wamba, Françoise Ngo Sack, Kouakou Boidy, Ismael Kamara, Youssouf Traore, Cheick Oumar Diakite, Valérie Gbonon, Blaise Felix Faye, Moussa Seck, Indou Deme Ly, David Chelo, Roland N’Guetta, Ibrahima Bara Diop, Bamba Gaye, Xavier Jouven, and Brigitte Ranque, “Degree of anemia, indirect markers of hemolysis, and vascular complications of sickle cell disease in Africa,” Blood, vol. 130, no. 20, pp. 2215–2223, 2017. View at Publisher · View at Google Scholar
  • Halima W. M. Al Balushi, Yasser Wali, Maha Al Awadi, Taimoora Al-Subhi, David C. Rees, John N. Brewin, Anke Hannemann, and John S. Gibson, “ The super sickling haemoglobin HbS-Oman: a study of red cell sickling, K + permeability and associations with disease severity in patients heterozygous for HbA and HbS-Oman (HbA/S-Oman genotype) ,” British Journal of Haematology, 2017. View at Publisher · View at Google Scholar
  • Arturo J Martí-Carvajal, and Cristina Elena Martí-Amarista, “Interventions for treating intrahepatic cholestasis in people with sickle cell disease,” Cochrane Database of Systematic Reviews, 2017. View at Publisher · View at Google Scholar
  • Tânia Carlice-dos-Reis, Jaime Viana, Fabiano Cordeiro Moreira, Greice de Lemos Cardoso, João Guerreiro, Sidney Santos, and Ândrea Ribeiro-dos-Santos, “Investigation of mutations in the HBB gene using the 1,000 genomes database,” Plos One, vol. 12, no. 4, pp. e0174637, 2017. View at Publisher · View at Google Scholar
  • Tite Minga Mikobi, Prosper Tshilobo Lukusa, Michel Ntetani Aloni, Aimé Lumaka, Pierre Zalagile Akilimali, Koenraad Devriendt, Gert Matthijs, Jean-Marie Mbuyi Muamba, and Valerie Race, “ Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α 3.7 triplication in congolese patients than in worldwide series ,” Journal of Clinical Laboratory Analysis, pp. e22186, 2017. View at Publisher · View at Google Scholar
  • Tite Minga Mikobi, Prosper Tshilobo Lukusa, Michel Ntetani Aloni, Aimé Zola Lumaka, Didine Kinkodi Kaba, Koenraad Devriendt, Gert Matthijs, Jean Marie Mbuyi Muamba, and Valérie Race, “ Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia ,” Journal of Clinical Laboratory Analysis, pp. e22207, 2017. View at Publisher · View at Google Scholar
  • A.E. Alagbe, A.S. Justo Junior, L.P. Ruas, W.V. Tonassé, R.M. Santana, T.H.C. Batista, I.F. Domingos, A.S. Araujo, M.A.C. Bezerra, M.N.N. Santos, and M.H.S.L. Blotta, “Interleukin-27 and interleukin-37 are elevated in sickle cell anemia patients and inhibit in vitro secretion of interleukin-8 in neutrophils and monocytes,” Cytokine, 2017. View at Publisher · View at Google Scholar
  • Tite M. Mikobi, Prosper Lukusa Tshilobo, Michel N. Aloni, Pierre Z. Akilimali, Georges Mvumbi-Lelo, and Jean Marie Mbuyi-Muamba, “Clinical phenotypes and the biological parameters of Congolese patients suffering from sickle cell anemia: A first report from Central Africa,” Journal of Clinical Laboratory Analysis, pp. e22140, 2017. View at Publisher · View at Google Scholar
  • Iakovos Armenis, Vassiliki Kalotychou, Revekka Tzanetea, Panagoula Kollia, Zoi Kontogeorgiou, Dimitra Anastasopoulou, Marina Mantzourani, Michael Samarkos, Konstantinos Pantos, Kostas Konstantopoulos, and Ioannis Rombos, “Prognostic value of T786C and G894T eNOS polymorphisms in sickle cell disease,” Nitric Oxide, vol. 62, pp. 17–23, 2017. View at Publisher · View at Google Scholar
  • Caroline Maria Igrejas Lopes, Marília Cabral Cavalcanti, Ana Cláudia Alves E Luna, Kátia Maria Gonçalves Marques, Maria José Rodrigues, and Valdenice Aparecida De Menezes, “Enamel defects and tooth eruption disturbances in children with sickle cell anemia,” Brazilian Oral Research, vol. 32, no. 0, 2018. View at Publisher · View at Google Scholar
  • Heloísa Laís Rosario dos Santos, Inessa da Silva Barbosa, Thaís Feitosa Leitão de Oliveira, Viviane Almeida Sarmento, and Soraya Castro Trindade, “Evaluation of the maxillomandibular positioning in subjects with sickle-cell disease through 2- and 3-dimensional cephalometric analyses,” Medicine, vol. 97, no. 25, pp. e11052, 2018. View at Publisher · View at Google Scholar
  • Pacint Moez, Reham Moftah, and Hayam A. Mahmoud, “A study on the genotype frequency of $$-158~\hbox {G}\gamma $$-158Gγ ($$\hbox {C}{\rightarrow }\hbox {T}$$C→T) Xmn1 polymorphism in a sickle cell trait cohort from Siwa Oasis, Egypt,” Journal of Genetics, 2018. View at Publisher · View at Google Scholar
  • Françoise Bernaudin, Cécile Arnaud, Annie Kamdem, Isabelle Hau, Françoise Lelong, Ralph Epaud, Corinne Pondarré, and Serge Pissard, “Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea,” Blood Advances, vol. 2, no. 6, pp. 626–637, 2018. View at Publisher · View at Google Scholar
  • Samir K. Ballas, “Sickle cell disease: Classification of clinical complications and approaches to preventive and therapeutic management,” Clinical Hemorheology and Microcirculation, vol. 68, no. 2-3, pp. 105–128, 2018. View at Publisher · View at Google Scholar
  • Kate Gardner, Tony Fulford, Nicholas Silver, Helen Rooks, Nikolaos Angelis, Marlene Allman, Siana Nkya, Julie Makani, Jo Howard, Rachel Kesse-Adu, David C. Rees, Sara Stuart-Smith, Tullie Yeghen, Moji Awogbade, Raphael Z. Sangeda, Josephine Mgaya, Hamel Patel, Stephen Newhouse, Stephan Menzel, and Swee Lay Thein, “ g(HbF) : a genetic model of fetal hemoglobin in sickle cell disease ,” Blood Advances, vol. 2, no. 3, pp. 235–239, 2018. View at Publisher · View at Google Scholar
  • Sanjana Bhagat, and Amar Singh Thakur, “Influence of β-Globin Haplotypes on Oxidative Stress, Antioxidant Capacity and Inflammation in Sickle Cell Patients of Chhattisgarh,” Indian Journal of Clinical Biochemistry, 2018. View at Publisher · View at Google Scholar