β-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report

Review Medicine, General & Internal

Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia

Syahzuwan Hassan et al.

Summary: Thalassemia is a highly heterogeneous disease with over a thousand recorded mutation types worldwide. Conventional PCR-based DNA analysis for thalassemia diagnosis is time-consuming and resource-intensive due to phenotype variability, disease complexity, and test limitations. Advanced molecular techniques such as next-generation sequencing (NGS) and third-generation sequencing (TGS) offer more suitable and valuable options for DNA analysis of thalassemia. The continuous improvement of sequencing methods and bioinformatics tools, particularly for identifying copy number variations and homologous genes, will lead to more accurate thalassemia detection.

DIAGNOSTICS (2023)

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Article Hematology

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals

Jiwu Lou et al.

Summary: This study analyzed the phenotype-genotype correlation of 47336 individuals and identified 1439 individuals with elevated Hb A(2). Through genetic analysis, it was found that most of these individuals had molecular defects in globin genes, while some had defects in the KLF1 gene and a few had loss-of-function mutations in SUPT5H.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2023)

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Article Cell Biology

RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

Danya J. Martell et al.

Summary: This study identified mutations in the SUPT5H gene associated with beta-thalassemia, highlighting the importance of RNA polymerase II pausing in erythropoiesis. The disruption of pause release was found to affect cell differentiation and proliferation dynamics, resulting in delayed erythroid-specific gene expression.

DEVELOPMENTAL CELL (2023)

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Letter Hematology

A novel SUPT5H variant associated with a beta-thalassaemia trait

Theo Charnay et al.

BRITISH JOURNAL OF HAEMATOLOGY (2022)

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Review Pediatrics

Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review

Syahirah Amnani Suhaimi et al.

Summary: This review discusses the applications of next-generation sequencing (NGS) technology in screening and diagnosing thalassemias, highlighting its advantages in terms of high throughput, accuracy, and adaptability, as well as its importance in detecting rare variants, solving complex problems, and providing alternative methods. However, there are still limitations that prevent it from completely replacing conventional methods.

FRONTIERS IN PEDIATRICS (2022)

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Review Medicine, General & Internal

Molecular genetics of β-thalassemia A narrative review

Tang-Her Jaing et al.

Summary: Beta-thalassemia is a hereditary hematological disease caused by mutations in the beta-globin gene. Genetic studies have provided insights into disease severity prediction and management, with gene therapy representing a promising novel therapeutic approach. The expanding genome editing toolkit offers increased accuracy for personalized treatment strategies.

MEDICINE (2021)

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Review Physiology

The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies

Ahlem Achour et al.

Summary: Next-generation sequencing (NGS) has rapidly transitioned from a research setting to a clinical application, becoming the preferred method for detecting disease-causing variants in various genetic diseases. NGS plays an important role in screening and diagnosing hemoglobinopathies, with added value in large-scale screening and complex cases. It is a useful addition to existing methods for diagnosing these disorders.

FRONTIERS IN PHYSIOLOGY (2021)

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Article Hematology