Skip to main content Accessibility help
×
Hostname: page-component-78c5997874-xbtfd Total loading time: 0 Render date: 2024-11-14T09:57:43.219Z Has data issue: false hasContentIssue false

Chapter 8 - Screening for Hemoglobinopathies

from Section 3 - Inherited Red Cell Disorders

Published online by Cambridge University Press:  01 February 2018

Sue Pavord
Affiliation:
University of Oxford
Beverley Hunt
Affiliation:
King's College London
Get access
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Globin Gene Server; 2015. Available from: http://globin.cse.psu.edu/.Google Scholar
Serjeant, GH, Sergeant, B. Sickle Cell Disease, 3rd edn. Oxford: Oxford Medical Publications; 2001.Google Scholar
Henderson, S, Timbs, A, McCarthy, J et al. Incidence of hemoglobinopathies in various populations – the impact of immigration. Clinical Biochemistry 2009; 42(18): 17451756.Google Scholar
Sorour, Y, Heppinstall, S, Porter, N et al. Is routine molecular screening for common alpha-thalassemia deletions necessary as part of an antenatal screening programme? Journal of Medical Screening 2007; 14(2): 60–1.Google Scholar
Old, JM, Ward, RH, Petrou, M et al. First-trimester fetal diagnosis for hemoglobinopathies: three cases. Lance 1982; 2(8313): 14131416.Google Scholar
Tabor, A, Alfirevic, Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagnosis and Therapy 2010; 27(1): 17.Google Scholar
Weatherall, DJ. The role of the inherited disorders of hemoglobin, the first “molecular diseases,” in the future of human genetics. Annual Review of Genomics and Human Genetics 2013; 14: 124.CrossRefGoogle ScholarPubMed
Thein, SL. Genetic modifiers of beta-thalassemia. Hematologica 2005; 90(5): 649660.Google Scholar
Harteveld, CL, Higgs, DR. Alpha-thalassemia. Orphanet Journal of Rare Diseases 2010; 5: 13.Google Scholar
Chui, DH. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Annals of the New York Academy of Sciences 2005; 1054: 2532.Google Scholar
Henderson, S, Pitman, M, McCarthy, J, Molyneux, A, Old, J. Molecular prenatal diagnosis of Hb H hydrops fetalis caused by hemoglobin Adana and the implications to antenatal screening for alpha-thalassemia. Prenatal Diagnosis 2008; 28(9): 859861.Google Scholar
Treger-Synodinos, J, Harteveld, CL, Old, JM et al. EMQN Best Practice Guidelines for molecular and hematology methods for carrier identification and prenatal diagnosis of the hemoglobinopathies. European Journal of Human Genetics 2015; 23(4): 426437.CrossRefGoogle Scholar
Old, J, Henderson, S. Molecular diagnostics for hemoglobinopathies. Expert Opinion on Medical Diagnostics 2010; (3): 225240.Google Scholar
Brezina, PR, Brezina, DS, Kearns, WG. Preimplantation genetic testing. BMJ 2012; 345: e5908.Google Scholar
Mastenbroek, S, Twisk, M, van der Veen, F, Repping, S. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Human Reproduction Update 2011; 17(4): 454466.CrossRefGoogle ScholarPubMed
Lo, YM. Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA. Open Biology 2012; 2(6): 120086.Google Scholar
Lun, FM, Chiu, RW, Chan, KC et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clinical Chemistry 2008; 54(10):16641672.CrossRefGoogle ScholarPubMed
Fan, HC, Gu, W, Wang, J et al. Non-invasive prenatal measurement of the fetal genome. Nature 2012; 487(7407): 320324.Google Scholar
Phylipsen, M, Yamsri, S, Treffers, EE et al. Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis. Prenatal Diagnosis 2012; 32(6): 578587.Google Scholar
Barrett, AN, McDonnell, TC, Chan, KC, Chitty, LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clinical Chemistry 2012; 58(6): 10261032.Google Scholar
Public Health England. NHS Sickle Cell and Thalassaemia Screening: handbook for antenatal laboratories; Sept 2017 https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/647349/Antenatal Laboratory Handbook.pdf (accessed Oct 27, 2017)Google Scholar
Public Health England. NHS Sickle Cell and Thalassaemia Screening: handbook for antenatal laboratories; Jan 2017 https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/585126/NHS_SCT_Handbook_for_Newborn_Laboratories.pdf (accessed Oct 27, 2017).Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×