Abstract
This chapter reports the essential elements needed to understand basic laboratory diagnostics consisting of separation and measurement of the hemoglobin fractions. Although well established, basic diagnostics require some background and some degree of experience for application and interpretation. Last generation methods, consisting of automatic systems like high performance liquid chromatography and capillary electrophoresis (CE), allow high through put analysis in adults and newborns. Newborn screening using CE is presented in some details, using as an example the Capillarysâ Neonat Hb system (Sebia, France), as an upcoming alternative, explaining the method, the interpretation of the results, the objectives, the follow up, the advantages, and the pitfalls.
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References
Bunn AF, Forget BG, Ranney HM (1977) Human hemoglobins. W.B. Saunders, Philadelphia
van den Berg HM et al (1999) Hb Nijkerk: a new mutation at codons 138/139 of the beta-globin gene inducing severe hemolytic anemia in a Dutch girl. Hemoglobin 23:135–144
Weatherall DJ, Clegg JB (2001) The thalassaemia syndromes, 4th edn. Wiley-Blackwell, Oxford
Harteveld CL et al (2003) Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family. Br J Haematol 122:855–858
Harteveld CL et al (2008) Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients. Blood Cells Mol Dis 40:312–316
Sharma V et al (2009) Alpha globin gene numbers: an important modifier of HbE/beta thalassemia. Hematology 14:297–300
Giardine B et al (2007) HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat 28:206
Amato A et al (2009) Prevention strategies for severe hemoglobinopathies in endemic and nonendemic immigration countries: the Latium example. Prenat Diagn 29:1171–1174
Giordano PC (2009) Starting neonatal screening for haemoglobinopathies in The Netherlands. J Clin Pathol 62:18–21
Gulbis B et al (2009) Neonatal Hemoglobinopathy screening in Belgium. J Clin Pathol 62:49–52
Streetly A et al (2009) Implementation of universal newborn bloodspot screening for sickle cell disease and other clinically significant haemoglobinopathies in England: screening results for 2005–7. J Clin Pathol 62:26–30
Dickerhoff R, Genzel-Boroviczeny O, Kohne E (2009) Haemoglobinopathies and newborn haemoglobinopathy screening in Germany. J Clin Pathol 62:34
Michlitsch J et al (2009) Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer 52:486–490
Nasserullah Z et al (2003) Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency. Ann Saudi Med 23:354–357
Giordano PC (2009) Prospective and retrospective primary prevention of hemoglobinopathies in multiethnic societies. Clin Biochem 42:1757–1766
Van Delft P et al (2009) Evaluating five dedicated automatic devices for hemoglobinopathy diagnostics in multi ethnic populations. Int J Lab Hematol 31:484–495
Mosca A et al (2009) The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol 62:13–17
Gilman JG, Huisman TH, Abels J (1984) Dutch beta 0-thalassaemia: a 10 kilobase DNA deletion associated with significant gamma-chain production. Br J Haematol 56:339–348
Mantikou E et al (2009) A brief review on newborn screening methods for hemoglobinopa thies and preliminary results selecting beta thalassemia carriers at birth by quantitative estimation of the HbA fraction. Clin Biochem 42:1780–1785
Rugless MJ et al (2006) Hb Bart’s in cord blood: an accurate indicator of alpha-thalassemia. Hemoglobin 30:57–62
Acknowledgments
The author is grateful to Eleni Mantikou for her skilful contribution and declares to have no conflict of interest with manufacturers.
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Giordano, P.C. (2013). Newborn Screening for Hemoglobinopathies Using Capillary Electrophoresis. In: Phillips, T., Kalish, H. (eds) Clinical Applications of Capillary Electrophoresis. Methods in Molecular Biology, vol 919. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-029-8_13
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DOI: https://doi.org/10.1007/978-1-62703-029-8_13
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Publisher Name: Humana Press, Totowa, NJ
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