The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations
Abstract
We review and report here the genotypes and phenotypes of 60 novel thalassemia and abnormal hemoglobin (Hb) mutations discovered following the adoption of routine DNA sequencing of both α- and β-globin genes for all UK hemoglobinopathy samples referred for molecular investigation. This screening strategy over the last 10 years has revealed a total of 11 new β chain variants, 15 α chain variants, 19 β-thalassemia (β-thal) mutations and 15 α(+)-thalassemia (α(+)-thal) mutations. The large number of new thalassemia alleles confirms the wide racial heterogeneity of mutations in the UK immigrant population. Eleven of the new variants ran with Hb A on high performance liquid chromatography (HPLC), demonstrating the value of routine sequencing of both α- and β-globin genes for all hemoglobinopathy investigations. The new β chain variants are: Hb Bury [β22(B4)Glu → Asp (HBB: c.69A > T)], Hb Fulwood [β35(C1)Tyr → His (HBB: c.106T > C)], Hb Little Venice [β42(CD1)Phe → Cys (HBB: c.128T > G)], Hb Cork [β57(E1)Asn → Ser (HBB: c.173A > G), Hb Basingstoke [β118(GH1)Phe → Ser (HBB: c.356T > C)], Hb Howden [β20(B2)Val → Ala (HBB: c.62T > C)], Hb Wilton [β41(C7)Phe → Leu (HBB: c.126C > A)], Hb Belsize Park [β120(GH3)Lys → Asn (HBB: c.363A > T)], Hb Hampstead Heath [β2(NA2)His → Gln;β26(B8)Glu → Lys (HBB: c.[6C > G;79G > A])], Hb Grantham [β85(F1)Phe → Cys (HBB: c.257T > G)] and Hb Calgary [β64(E8)Gly → Val (HBB: c.194G > T). The new α chain variants are: Hb Edinburgh [α70(E19)Val → Gly (HBA2:…
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“HBA1:c.*96G > A affects the polyadenylation signal, leading to impaired poly(A) tail addition, aberrant transcript formation, or decreased translation efficiency, all of which reduce alpha-globin production [8].”
From Importance of the 3′UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia (2025) · cites this paper as [8]
In the citing paper
“To date, only two variants have been reported in the HBA1 3′UTR: c.*46C > A, affecting the minimal αRNA complex binding site [7], and c.*96G > A, altering the canonical polyadenylation signal [8].”
From Importance of the 3′UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia (2025) · cites this paper as [8]
Citations
Cites
Patrinos, G. P. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh006 · Cited by 377
Liu, Old, Miles, Fisher, Weatherall, & Clegg (2000) · British Journal of Haematology · doi:10.1046/j.1365-2141.2000.01870.x · Cited by 360
Basset, P., Beuzard, Y., Garel, M., & Rosa, J. (1978) · Blood · doi:10.1182/blood.v51.5.971.971 · Cited by 349
Craig, J., Barnetson, R., Prior, J., Raven, J., & Thein, S. (1994) · Blood · doi:10.1182/blood.v83.6.1673.1673 · Cited by 165
Giardine, B. M., Borg, J., Higgs, D. R., Peterson, K. R., Philipsen, S., Maglott, D. R., Singleton, B. K., Anstee, D. J., Başak, A. N., Clark, B. E., et al. (2011) · Nature Genetics · doi:10.1038/ng.785 · Cited by 161
Self-citationOld, J., Khan, S. N., Verma, I. C., Fucharoen, S., Kleanthous, M., Ioannou, P. A., Kotea, N., Fisher, C. A., Riazuddin, S. A., Saxena, R., et al. (2001) · Hemoglobin · doi:10.1081/hem-100107877 · Cited by 81
Self-citationIncidence of haemoglobinopathies in various populations — The impact of immigration
Henderson, S. J., Timbs, A., McCarthy, J., Gallienne, A. E., Mourik, M. V., Masters, G. S., May, A. M., Khalil, M. S. M., Schuh, A., & Old, J. (2009) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2009.05.012 · Cited by 59
Self-citationMutations in the paralogous human α-globin genes yielding identical hemoglobin variants
Moradkhani, K., Préhu, C., Old, J., Henderson, S. J., Balamitsa, V., Luo, H., Poon, M., Chui, D. H. K., Wajcman, H., & Patrinos, G. P. (2008) · Annals of Hematology · doi:10.1007/s00277-008-0624-3 · Cited by 46
Self-citationGallienne, A. E., Dreau, H. M.-P., McCarthy, J., Timbs, A., Hampson, J. M., Schuh, A., Old, J., & Henderson, S. J. (2009) · Hemoglobin · doi:10.3109/03630260903344564 · Cited by 27
Self-citationMolecular diagnostics for haemoglobinopathies
Old, J., & Henderson, S. J. (2010) · Expert Opinion on Medical Diagnostics · doi:10.1517/17530051003709729 · Cited by 21
Self-citation
Research works printed but not linked: 1
- Khalil MSM, 2009, Saudi Med J., 30, 1158
Cited by
Benito, S. F., Abío, M., Bardón-Cancho, E. J., Nieto, J. M., Ortega, B., González, F. A., Villegas, A., Benavente, C., & Ropero, P. (2025) · Annals of Hematology · doi:10.1007/s00277-025-06624-3 · Cited by 1
Metadata
- Authors
- Henderson, S. J., Timbs, A. T., McCarthy, J., Gallienne, A. E., Proven, M., Rugless, M. J., Lopez, H., Eglinton, J., Dziedzic, D., Beardsall, M., Khalil, M. S. M., & Old, J. M.
- Venue
- Hemoglobin
- Publisher
- Informa UK Limited
- Published
- 2015-12-04
- Volume
- 40
- Issue
- 2
- Pages
- 75-84
- ISSN
- 0363-0269
- 1532-432X
- Cited by
- 51
- References
- 13
- Language
- en
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- Henderson, S. J., Timbs, A. T., McCarthy, J., Gallienne, A. E., Proven, M., Rugless, M. J., Lopez, H., Eglinton, J., Dziedzic, D., Beardsall, M., Khalil, M. S. M., & Old, J. M. (2016). Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. Hemoglobin. https://doi.org/10.3109/03630269.2015.1113990
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