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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 5
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Original Article

New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A2-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG]

Marion Phylipsen The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
Cornelis L. Harteveld The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
Menno de Metz Department of Clinical Chemistry, Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands
,
Monica V.E. Gallivan Quest Diagnostics, Nichols Institute, Chantilly, Virginia, USA
,
Sandra G.J. Arkesteijn The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
Hong-Yuan Luo Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, and Boston University School of Medicine, Boston, Massachusetts, USA
,
David H.K. Chui Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, and Boston University School of Medicine, Boston, Massachusetts, USA
&
Piero C. Giordano The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsCorrespondence[email protected]
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Pages 445-450 | Received 12 Apr 2010, Accepted 28 Jun 2010, Published online: 20 Sep 2010

Citations (15)

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Nelson C. N. Chan, Terry H. Y. Wong, Kelvin C. K. Cheng, Natalie P. H. Chan & Margaret H. L. Ng. (2021) An Evaluation for the Causes of Reduced Hb A2 and the Molecular Characterization of HBD Variants in Hong Kong. Hemoglobin 45:6, pages 387-391.
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Stacy Colaco, Amee Trivedi, Roshan B. Colah, K. Ghosh & Anita H. Nadkarni. (2014) Masking of a β-Thalassemia Determinant by a Novel δ-Globin Gene Defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301C>T] in Cis. Hemoglobin 38:1, pages 24-27.
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Khawla M. Belhoul, Maisam L. Bakir & Mahera Abdulrahman. (2013) Misdiagnosis of Hb D-Punjab/β-Thalassemia is a Potential Pitfall in Hemoglobinopathy Screening Programs: A Case Report. Hemoglobin 37:2, pages 119-123.
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Jialing Cui, Mahin Azimi, Adekunle D. Adekile, Hanan Al Awadhi & Carolyn C. Hoppe. (2012) Detection of Anti-Lepore Hb P-Nilotic by Multiplex Ligation-Dependent Probe Amplification. Hemoglobin 36:3, pages 276-282.
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Articles from other publishers (11)

Stacy Colaco, Roshan Colah & Anita Nadkarni. (2022) Significance of borderline HbA2 levels in β thalassemia carrier screening. Scientific Reports 12:1.
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Stacy Colaco & Anita Nadkarni. (2021) Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers. Mutation Research/Reviews in Mutation Research 788, pages 108387.
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P. Hariharan, S. Colaco, R. Colah, K. Ghosh & A. Nadkarni. (2016) Delta globin gene variations leading to reduction in HbA 2 levels . International Journal of Laboratory Hematology 38:6, pages 610-615.
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Giovanni Ivaldi, Giuseppina Barberio, Cornelis L. Harteveld & Piero Giordano. (2014) HbA2 Measurements in β-Thalassemia and in Other Conditions. Thalassemia Reports 4:2, pages 1832.
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P. C. Giordano. (2013) Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls. International Journal of Laboratory Hematology 35:5, pages 465-479.
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Stacy Colaco, Roshan Colah, K. Ghosh & Anita Nadkarni. (2012) Compromising for carrier detection of beta thalassemia based on measurement of HbA2 levels in unusual cases. Clinica Chimica Acta 413:19-20, pages 1705-1707.
Crossref
Monica V. E. Gallivan & Piero C. Giordano. 2012. Laboratory Hematology Practice. Laboratory Hematology Practice 562 585 .
Felicea Gibson, Karlene Mason, Beryl Serjeant, Andreas Kulozik, Margit Happich, Gabriele Tolle, Ian Hambleton & Graham Serjeant. (2011) Screening for the beta-thalassaemia trait: hazards among populations of West African Ancestry. Journal of Community Genetics 3:1, pages 13-18.
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Judith O. Kaufmann, Gönül Demirel‐Güngör, Anke Selles, Cisca Hudig, Gerard Steen, Gabrielle Ponjee, Cas Holleboom, Liv M. Freeman, Joris Hendiks, Pierre Wijermans, Piero C. Giordano & Jean‐Louis Kerkhoffs. (2011) Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands. Prenatal Diagnosis 31:13, pages 1259-1263.
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Barbara J. Bain. (2011) Haemoglobinopathy diagnosis: Algorithms, lessons and pitfalls. Blood Reviews 25:5, pages 205-213.
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M. PHYLIPSEN, M. V. E. GALLIVAN, S. G. J. ARKESTEIJN, C. L. HARTEVELD & P. C. GIORDANO. (2011) Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics. International Journal of Laboratory Hematology 33:1, pages 85-91.
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