Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β<sup>0</sup> thalassemia

Ekwattanakit, Supachai; Riolueang, Suchada; Viprakasit, Vip

doi:10.1080/10245332.2017.1359899

Cited by 4 publications

(3 citation statements)

References 29 publications

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“…An ameliorating effect of α-thalassemia interactions and high Hb F determinants has been well studied [40][41][42]. Moreover, the interaction of thalassemia and Hb variants has been reported in several publications in the Thai population such as compound heterozygosity for Hb Korle-Bu and Hb E with α + -thalassemia, complex interactions between Hb Lepore-Hollandia and Hb E with α + -thalassemia and interaction between Hb E and Hb Yala resulting in Hb E/β 0 -thalassemia, double heterozygosity of Hb Hope and α 0 -thalassemia and compound heterozygotes for Hb Hope and β 0 -thalassemia [43][44][45][46]. Hereditary persistence (HPFH) and δβ-thalassemia are characterized by elevated fetal hemoglobin levels in adult life.…”

Section: Interaction Of Common Thalassemia and Hemoglobin Variantsmentioning

confidence: 94%

Interaction of Thalassemia and Hb Variants in Southeast Asia: Genotype-Phenotype Relationship

Nuinoon¹

2023

Thalassemia Syndromes - New Insights and Transfusion Modalities

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Thalassemia and hemoglobinopathies are characterized by globin gene mutations affecting the production of quantitative and structural defects of the globin chain. α-Thalassemia, β-thalassemia, hemoglobin E (Hb E), and hemoglobin Constant Spring (Hb CS) are very common in Southeast Asian countries. Complex interactions of thalassemia and Hb variants are also common and affect the thalassemia diagnosis with several techniques including Hb typing and DNA analysis. A family study (family pedigree) is required in the proband with a complex interaction of several globin gene defects with rare types. Homozygous β-thalassemia, Hb E/β-thalassemia, and Hb Bart’s hydrops fetalis are severe thalassemia and these diseases have been concerned and included in the prevention and control program in several countries. Understanding the genotype-phenotype could help with the proper laboratory tests, genetic counseling, and effective treatment for the patients.

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Section: Interaction Of Common Thalassemia and Hemoglobin Variantsmentioning

confidence: 94%

Interaction of Thalassemia and Hb Variants in Southeast Asia: Genotype-Phenotype Relationship

Nuinoon¹

2023

Thalassemia Syndromes - New Insights and Transfusion Modalities

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“…On the other hand, β-thalassemia, whose coding gene is situated on chromosome 11, is a hemoglobin disorder characterized by anemia that is passed down from parents to children. Β-thalassemia is commonly found in individuals from the Mediterranean region (5).…”

Section: Introductionmentioning

confidence: 99%

Prevalence of β-thalassemia in anemic children referred to City Medical Complex in Kabul City in 1401

Salarzai,

Azizi,

Sadeqi

2024

AJBMS

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Introduction: β-thalassemia is caused by a defect in the synthesis of the βchain of the hemoglobin molecule. Depending on the extent of the genetic aberration, there are several classifications of β-thalassemia, namely βthalassemia minor, intermediate, and major. Among these, β-thalassemia major represents the most severe manifestation of this disorder. Materials and Methods:This descriptive investigation was carried out in a cross-sectional manner. The data pertaining to the research were obtained from the archived records of anemic children who were referred to City Medical Complex Hospital in Kabul city for an HB-Electrophorisis test during the initial six months of 1401. The analysis of the data was performed utilizing descriptive statistics and the software SPSS version 22. Results:The data presented in the study revealed that out of the total sample size of 216 children diagnosed with thalassemias, 37 individuals were identified as having β-thalassemias, accounting for approximately 17.6% of the cases. Further analysis of the β-thalassemia subgroup indicated that the majority of cases (66.7%) were classified as β-thalassemia major. Conclusion:The study found that 17.6% of children with anemia were diagnosed with β-thalassemia, with the majority being thalassemia major. The prevalence is highest among children under 6, with symptoms onset around 6 months and survival until 10. β-thalassemia minor has the highest occurrence, possibly due to its hereditary nature passed down from parents. Traditional family marriages in society often lack awareness and knowledge about this condition, affecting the prevalence of β-thalassemia.

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“…Arch Med Sci 2, February / 2020 Table I. [25] have identified two frameshift mutations in the third exon that causes a rapid mRNA decay in thalassemia intermedia patients. The novel heterozygous mutation identified in this present study, HBB:c.281G>T in exon 2 is caused by a missense mutation that substituted the sulfur containing amino acid, cysteine into the aromatic amino acid, phenylalanine [26].…”

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confidence: 99%

Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

Aldakeel

Ghanem

Al-Amodi

et al. 2020

aoms

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Introduction: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain. The severity of the disease relies on the variant's characteristics. This study aimed to identify the common β-globin HBB variants in the population of the Eastern Province, which has the highest prevalence of blood diseases in Saudi Arabia. Material and methods: Direct sequence of β-globin HBB gene, and alpha-globin HBA1 and HBA2 genes was performed on a total of 545 blood samples (transfusion-dependent: 215, 106 men and 109 women; normal healthy subjects: 330, 197 men and 133 women) collected from Saudi Arabian participants in the Eastern region. Results: A total of 36 variants in HBB gene were revealed with 11 variants that have been reported for the first time in Saudi Arabia, including 7 novel variants that have been identified for the first time in HBB gene. The novel variants consisted of two exonic (HBB:c.252C>T; HBB:c.281G>T) and five intronic variants (c.316-183_316-168del; c.315+241T>A; c.315+376T>C; c.316-114C>G; c.315+208T>G) at HBB gene. The novel exonic variants and three (c.316-183_316-168del; c.315+241T>A; c.315+376T>C) intronic variants were co-inherited with α deletion. Conclusions: This current study updated the HBB gene variations with newly identified variants of HBB gene and co-inheritance with α-globin deletions. The identified β-globin mutations will strengthen the genetic reference that could aid in characterizing mutations that are associated with phenotype of thalassemia in a specific region.

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Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β⁰ thalassemia

Abstract: This report has provided evidence that genotype-phenotype correlation in thalassemia syndromes is highly complex and a correct clinical severity classification of thalassemia should be mainly based on clinical evaluation.

Cited by 4 publications

References 29 publications

Interaction of Thalassemia and Hb Variants in Southeast Asia: Genotype-Phenotype Relationship

Interaction of Thalassemia and Hb Variants in Southeast Asia: Genotype-Phenotype Relationship

Prevalence of β-thalassemia in anemic children referred to City Medical Complex in Kabul City in 1401

Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

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Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β0 thalassemia

Abstract: This report has provided evidence that genotype-phenotype correlation in thalassemia syndromes is highly complex and a correct clinical severity classification of thalassemia should be mainly based on clinical evaluation.

Cited by 4 publications

References 29 publications

Interaction of Thalassemia and Hb Variants in Southeast Asia: Genotype-Phenotype Relationship

Interaction of Thalassemia and Hb Variants in Southeast Asia: Genotype-Phenotype Relationship

Prevalence of β-thalassemia in anemic children referred to City Medical Complex in Kabul City in 1401

Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

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Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β⁰ thalassemia