Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or <i>HBA1</i>: c.-24C&gt;G (or <i>HBA2</i>) Variants

Khalil, Mohamed S; Timbs, Adele; Henderson, Shirley; Schuh, Anna; Old, John

doi:10.1080/03630269.2020.1817755

Cited by 4 publications

(1 citation statement)

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“…Unexpectedly, we found that the Cap +14(C>G) mutation located in the promoter region of the α 2 -globin gene might be responsible for α + -thalassemia because of the partially abolished translation identified in two patients, one with the β E /β Malay genotype and the other with the β E /β Dhonburi genotype. The Cap +14(C>G) mutation has been found in patients with Hb J-Meerut and Hb Winnipeg [α75(EF4)Asp→Tyr (α2); HBA2: c.226G > T (or HBA1)] [ 35 , 36 ], but this mutation has not yet been observed in the Thai population. To the best of our knowledge, this is the first report of doubly coinherited HbE with Hb Malay and Hb Dhonburi with the Cap +14(C>G) mutation causing the β-thalassemia intermedia phenotype in Thai patients.…”

Section: Discussionmentioning

confidence: 99%

Molecular understanding of unusual HbE-β ⁺ -thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels

Jomoui,

Satthakarn,

Panyasai

2023

Annals of Medicine

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Background Low HbF expression in HbE-β + -thalassemia may lead to misdiagnosis of HbE heterozygosity. We aimed to characterize the β - and α-globin genes and the modifying factors related to HbF expression in patients with an Hb phenotype similar to that of HbE heterozygotes. Furthermore, screening tools for differentiating HbE-β + -thalassemia from HbE heterozygotes have been investigated. Participants and Methods A total of 2133 participants with HbE and HbA with varying HbF levels were recruited. Polymerase chain reaction-based DNA analysis and sequencing were performed to characterize β- and α-globin genes. DNA polymorphism at position −158 nt 5′ to G γ-globin was performed by Xmn I restriction digestion. Receiver operating characteristic (ROC) curves were constructed using the area under the curve (AUC). Cutoff values of HbA 2 , HbE, and HbF levels for the differentiation of HbE-β + -thalassemia from HbE heterozygotes were determined. Results Five β + -thalassemia mutations trans to β E -gene (β −87(C>A) , β −31(A>G) , β −28(A>G) , β 19(A>G) , and β 126(T>G) ) were identified in 79 patients. Among these, 54 presented with low HbF levels, and 25 presented with high HbF levels. ROC curve analysis revealed an excellent AUC of 1.000 (95% confidence interval:1.000–1.000) for HbE levels, and a cut-off point of ≥35.0% had 100.0% sensitivity, specificity, and Youden’s index for differentiating HbE-β + -thalassemia from HbE heterozygotes. The proportion of α-thalassemia mutations was 46.3 and 8.0% among HbE-β + -thalassemia patients with low and high HbF levels, respectively. Two rare α-thalassemia mutations (Cap +14(C>G) and initiation codon (ATG>-TG)) of α 2 -globin genes were identified. The genotype and allele of the polymorphism at −158 nt 5′ to G γ-globin was found to be negatively associated with HbF expression. Conclusions HbE-β + -thalassemia cannot be disregarded until appropriate DNA analysis is performed, and the detection of α-thalassemia mutations should always be performed under these conditions. An HbE level ≥35.0% may indicate screening of samples for DNA analysis for HbE-β + -thalassemia diagnosis.

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Section: Discussionmentioning

confidence: 99%

Molecular understanding of unusual HbE-β ⁺ -thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels

Jomoui,

Satthakarn,

Panyasai

2023

Annals of Medicine

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Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression

et al. 2020

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A New α1-Globin Variant, Hb Ormylia [ HBA1 :c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece

Vousvouki,

Delaki,

Boutou

et al. 2024

Hemoglobin

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Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or HBA1: c.-24C>G (or HBA2) Variants

Cited by 4 publications

References 20 publications

Molecular understanding of unusual HbE-β ⁺ -thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels

Molecular understanding of unusual HbE-β ⁺ -thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels

Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression

A New α1-Globin Variant, Hb Ormylia [ HBA1 :c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece

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Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or HBA1: c.-24C>G (or HBA2) Variants

Cited by 4 publications

References 20 publications

Molecular understanding of unusual HbE-β + -thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels

Molecular understanding of unusual HbE-β + -thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels

Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression

A New α1-Globin Variant, Hb Ormylia [ HBA1 :c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece

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Molecular understanding of unusual HbE-β ⁺ -thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels

Molecular understanding of unusual HbE-β ⁺ -thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels