Haemoglobin and the Genetics of Haemoglobin Synthesis

Bain, Barbara J.

doi:10.1002/9780470988787.ch1

Cited by 4 publications

References 47 publications

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Clinical to Molecular Screening Paradigm forβ-Thalassemia Carriers

et al. 2015

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β-Thalassemia (β-thal) represents a major health problem worldwide and particularly in Egypt. Its prevention, compared to treatment, is cost-effective, possible and practical. In this study we evaluate a proposed paradigm for detection of the β-thal carrier state. The present study included 1627 children and adolescents of both sexes, presenting as outpatients to clinics of Ain-Shams University Hospitals, Cairo, Egypt, from November 1 2009 to June 30 2010. In the first phase, after performing a complete blood count (CBC), 280 microcytic hypochromic patients were selected. These cases were further analyzed by iron profile and high performance liquid chromatography (HPLC); in the second phase, hybridization detected 22 common β-globin mutations in 74.0% of the suspected cases. Thus, by HPLC, the Hb A2 level of >3.5% provided 100.0% sensitivity, 70.0% specificity, 75.0% positive predictive value (PPV), 100.0% negative predictive value (NPV) and accuracy of 70.0% to identify β-thal trait and at a cut-off of 4.0%, it provided 97.4% sensitivity, 72.7% specificity, 92.6% PPV, 88.8% NPV and a diagnostic accuracy of 92%. High performance liquid chromatography is a reliable and cost effective primary screening tool for β-thal trait at a Hb A2 level of ≥4.0%, while molecular testing is mandatory only for selected cases with borderline Hb A2 values between 3.5 and 4.0%.

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Clinical to Molecular Screening Paradigm forβ-Thalassemia Carriers

et al. 2015

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Effect of antiretroviral therapy on hemoglobin A₂ values can have implications in antenatal beta-thalassemia screening programs

Bhagat

Sachdeva

Sharma

et al. 2015

Infectious Diseases

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Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene

Mahmud

Maffei

Mogni

et al. 2021

Genes

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Background: Hemoglobin A (Hb A) (α2β2) in the normal adult subject constitutes 96–98% of hemoglobin, and Hb F is normally less than 1%, while for hemoglobin A2 (Hb A2) (α2δ2), the normal reference values are between 2.0 and 3.3%. It is important to evaluate the presence of possible delta gene mutations in a population at high risk for globin gene defects in order to correctly diagnose the β-thalassemia carrier. Methods: The most used methods for the quantification of Hb A2 are based on automated high performance liquid chromatography (HPLC) or capillary electrophoresis (CE). In particular Hb analyses were performed by HPLC on three dedicated devices. DNA analyses were performed according to local standard protocols. Results: Here, we described eight new δ-globin gene variants discovered and characterized in some laboratories in Northern Italy in recent years. These new variants were added to the many already known Hb A2 variants that were found with an estimated frequency of about 1–2% during the screening tests in our laboratories. Conclusions: The knowledge recognition of the delta variant on Hb analysis and accurate molecular characterization is crucial to provide an accurate definitive thalassemia diagnosis, particularly in young subjects who would like to ask for a prenatal diagnosis or preimplantation genetic diagnosis.

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Haemoglobin and the Genetics of Haemoglobin Synthesis

Cited by 4 publications

References 47 publications

Clinical to Molecular Screening Paradigm forβ-Thalassemia Carriers

Clinical to Molecular Screening Paradigm forβ-Thalassemia Carriers

Effect of antiretroviral therapy on hemoglobin A₂ values can have implications in antenatal beta-thalassemia screening programs

Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene

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Haemoglobin and the Genetics of Haemoglobin Synthesis

Cited by 4 publications

References 47 publications

Clinical to Molecular Screening Paradigm forβ-Thalassemia Carriers

Clinical to Molecular Screening Paradigm forβ-Thalassemia Carriers

Effect of antiretroviral therapy on hemoglobin A2 values can have implications in antenatal beta-thalassemia screening programs

Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene

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Effect of antiretroviral therapy on hemoglobin A₂ values can have implications in antenatal beta-thalassemia screening programs