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Original

Screening and genetic diagnosis of haemoglobinopathies

Pages 71-86 | Published online: 08 Jul 2009

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Gabriela Bencaiova, Kristina Dapoto, Roland Zimmermann & Alexander Krafft. (2015) Red blood cell parameters in antenatal nonsickling hemoglobinopathy screening. International Journal of Women's Health 7, pages 379-384.
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Jan Traeger-Synodinos & Cornelis L Harteveld. (2014) Advances in Technologies for Screening and Diagnosis of Hemoglobinopathies. Biomarkers in Medicine 8:1, pages 119-131.
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Herminio López-Escribano, Maria M. Parera, Pilar Guix, José A. Castro, Misericòrdia Ramon & Antònia Picornell. (2013) Utility and Importance of Accurate Hb A2 Measurements for Defining a Strategy for β-Thalassemia Screening: Experience in the Balearic Islands, Spain. Hemoglobin 37:6, pages 593-598.
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Azarkeivan Azita, Maryam Neishabury, Valeh Hadavi, Esteghamat Fatemehsadat, Saideh Enrahimkhani & Najmabadi Hossein. (2010) A REPORT OF 8 CASES WITH HEMOGLOBIN H DISEASE IN AN IRANIAN FAMILY. Pediatric Hematology and Oncology 27:5, pages 405-412.
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Othman E. Soliman, Sohier Yahia, Amany Shouma, Hala K. Shafiek, Ashraf E. Fouda, Hanan Azzam, Nashwa K. Abousamra, Rabab Mahfouz, Enas F. Goda & Solafa A. El-Sharawy. (2010) Reverse hybridization StripAssay detection of β-thalassemia mutations in northeast Egypt. Hematology 15:3, pages 182-186.
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Ayman Al Sulaiman, Ahmed Suliman, May Al Mishari, Aziza Al Sawadi & Tarek M. Owaidah. (2008) Knowledge and Attitude Toward the Hemoglobinopathies Premarital Screening Program in Saudi Arabia: Population-Based Survey. Hemoglobin 32:6, pages 531-538.
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Lizbeth Yamilet Hernández-Verdugo, María Fernanda Fernández-Bautista, Alejandra Domínguez-Camacho, Cristal Medina-Pérez, Juana Inés Navarrete-Martínez, David Eduardo Cervantes-Barragán & Patricia Galindo-Delgado. (2023) Prevalencia de anemias hemolíticas hereditarias detectadas por tamiz metabólico ampliado en los servicios de salud de Petróleos Mexicanos. Revista Mexicana de Pediatría 90:2, pages 57-62.
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C. M. Katia Bilardo. 2023. Prenatal Diagnostic Testing for Genetic Disorders. Prenatal Diagnostic Testing for Genetic Disorders 321 332 .
Giorgia Mandrile, Susanna Barella, Antonino Giambona, Antonia Gigante, Michela Grosso, Silverio Perrotta, Saverio Scianguetta & Gian Luca Forni. (2022) First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE). Journal of Clinical Medicine 11:18, pages 5426.
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Parul Rai, Ewelina K. Mamcarz & Jane S. Hankins. 2021. Neonatal Hematology. Neonatal Hematology 93 112 .
Giulia Breveglieri, Elisabetta D’Aversa, Lucia Carmela Cosenza, Effrossyni Boutou, Angeliki Balassopoulou, Ersi Voskaridou, Roberto Gambari & Monica Borgatti. (2019) Detection of the sickle hemoglobin allele using a surface plasmon resonance based biosensor. Sensors and Actuators B: Chemical 296, pages 126604.
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Kari Hemminki, Xinjun Li, Asta Försti, Jan Sundquist & Kristina Sundquist. (2015) Thalassemia and sickle cell anemia in Swedish immigrants: Genetic diseases have become global. SAGE Open Medicine 3, pages 205031211561309.
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John M. Old. 2015. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 718 754 .
Ariane Blattner, Saskia Brunner-Agten, Katja Ludin, Martin Hergersberg, Roberto Herklotz, Andreas R. Huber & Benno Röthlisberger. (2013) Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH. Blood Cells, Molecules, and Diseases 51:1, pages 39-47.
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Srdjan Denic, Mukesh M. Agarwal, Bayan Al Dabbagh, Awad El Essa, Mohamed Takala, Saad Showqi & Javed Yassin. (2013) Hemoglobin A 2 Lowered by Iron Deficiency and α -Thalassemia: Should Screening Recommendation for β -Thalassemia Change? . ISRN Hematology 2013, pages 1-5.
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H López‐Escribano, MM Parera, P Guix, JM Serra, A Gutierrez, D Balsells, E Oliva‐Berini, JA Castro, MM Ramon & A Picornell. (2012) Balearic archipelago: three islands, three beta‐thalassemia population patterns. Clinical Genetics 83:2, pages 175-180.
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Zohreh Rahimi. (2013) Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran. BioMed Research International 2013, pages 1-10.
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John Old. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics 1 44 .
Peter Clark, Andrew J. Thomson & Ian A. Greer. 2012. Dewhurst's Textbook of Obstetrics & Gynaecology. Dewhurst's Textbook of Obstetrics & Gynaecology 151 172 .
Fu Xiong, Qiuying Huang, Xiaoyun Chen, Yuqiu Zhou, Xinhua Zhang, Ren Cai, Yajun Chen, Jiansheng Xie, Shanwei Feng, Xiaofeng Wei, Qizhi Xiao, Tianlang Zhang, Shiqiang Luo, Xuehuang Yang, Ying Hao, Yanxia Qu, Qingge Li & Xiangmin Xu. (2011) A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations. The Journal of Molecular Diagnostics 13:4, pages 427-435.
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Nicole E Cousens, Clara L Gaff, Sylvia A Metcalfe & Martin B Delatycki. (2010) Carrier screening for Beta-thalassaemia: a review of international practice. European Journal of Human Genetics 18:10, pages 1077-1083.
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Miriam S. DiMaio, Joyce E. Fox & Maurice J. Mahoney. 2010. Prenatal Diagnosis: Cases & Clinical Challenges. Prenatal Diagnosis: Cases & Clinical Challenges 22 65 .
Marelle J Bouva, Karin Mohrmann, Henri B J M Brinkman, Evelien A Kemper-Proper, Bert Elvers, J Gerard Loeber, Francesco E A M Verheul & Piero C Giordano. (2010) Implementing Neonatal Screening for Haemoglobinopathies in the Netherlands. Journal of Medical Screening 17:2, pages 58-65.
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Saskia Brunner-Agten, Martin Hergersberg, Roberto Herklotz, Andreas Hirt & Andreas R. Huber. (2009) Compound heterozygosity of Hb Hamilton and de novo mutated HbM Saskatoon. Annals of Hematology 89:5, pages 517-518.
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Murat O. Arcasoy & Patrick G. Gallagher. 2010. Molecular Pathology of Hematolymphoid Diseases. Molecular Pathology of Hematolymphoid Diseases 473 497 .
John M. Old. 2009. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 646 679 .
Antonino Giambona, Cristina Passarello, Disma Renda & Aurelio Maggio. (2009) The significance of the hemoglobin A2 value in screening for hemoglobinopathies. Clinical Biochemistry 42:18, pages 1786-1796.
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S.P. Holbrook & A. Quinn. (2008) An unusual explanation for low oxygen saturation. British Journal of Anaesthesia 101:3, pages 350-353.
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Martin B. Delatycki. (2012) Population Screening for Reproductive Risk for Single Gene Disorders in Australia: Now and the Future. Twin Research and Human Genetics 11:4, pages 422-430.
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