A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H

Achour, Ahlem; Koopmann, Tamara T.; Castel, Rob; Santen, Gijs W.E.; Hollander, Nicolette den; Knijnenburg, Jeroen; Ruivenkamp, Claudia; Arkesteijn, Sandra G.J.; Huurne, Jeanet ter; Bisoen, Sharda; Verschuren, Maaike; Vijfhuizen, Linda; Schaap, Rianne; Grimbergen, Anneliese; Slomp, J.; Traeger‐Synodinos, Joanne; Vrettou, Christina; Pissard, Serge; Galactéros, Frédéric; Baas, Frank; Harteveld, Cornelis L.

doi:10.1182/blood.2020005934

Cited by 17 publications

(17 citation statements)

References 20 publications

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“…Based on these results, the combination of HMA+Ven is now United States Food and Drug Administration (FDA) approved for upfront treatment in the elderly AML population. 1,2 Given the inclusion criteria for enrolment on this study, patients were not eligible for allogeneic haematopoietic cell transplantation (allo-HCT), hence data regarding allo-HCT data after…”

Section: Author Contributionsmentioning

confidence: 99%

A novel SUPT5H variant associated with a beta‐thalassaemia trait

et al. 2021

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Section: Author Contributionsmentioning

confidence: 99%

A novel SUPT5H variant associated with a beta‐thalassaemia trait

et al. 2021

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“…While a few trans‐ acting mutations have been identified, including the newly identified variant in SUPT5H gene causing β‐thalassaemia phenotypes. Therefore, both cis ‐ and trans‐ acting mutations are responsible for altering the production of β‐globin protein and segregating independently to the β‐globin cluster 41–44 …”

Section: Molecular Pathology Of βEta‐thalassaemiamentioning

confidence: 99%

Beta‐thalassemia and the advent of new interventions beyond transfusion and iron chelation

Chauhan

Shoaib

Fatma

et al. 2022

Brit J Clinical Pharma

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Beta-thalassaemia, including sickle cell anaemia and thalassaemia E, is most common in developing countries in tropical and subtropic regions. Because carriers have migrated there owing to demographic migration, β-thalassaemia can now be detected in areas other than malaria-endemic areas. Every year, an estimated 300 000-500 000 infants, the vast majority of whom are from developing countries, are born with a severe haemoglobin anomaly. Currently, some basic techniques, which include iron chelation therapy, hydroxyurea, blood transfusion, splenectomy and haematopoietic stem cell transplantation, are being used to manage thalassaemia patients. Despite being the backbone of treatment, traditional techniques have several drawbacks and limitations. Ineffective erythropoiesis, correction of globin chain imbalance and adjustment of iron metabolism are some of the innovative treatment methods that have been developed in the care of thalassaemia patients in recent years. Moreover, regulating the expression of B-cell lymphoma/leukaemia 11A and sex-determining region Y-box through the enhanced expression of micro RNAs can also be considered putative targets for managing haemoglobinopathies. This review focuses on the biological basis of β-globin gene production, the pathophysiology of β-thalassaemia and the treatment options that have recently been introduced.

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“…WES uncovered two different pathogenic splice site variants in the SUPT5H gene (ENSG00000196235.14) that encodes the Spt5H protein, a component of the DSIF complex. A total of eight different pathogenic variants in the SUPT5H gene have been identified in 25 patients with a similar beta-thalassemia minor phenotype showing no abnormalities in the HBB gene (16, Dutch; 2, French; and 7, Greek) (Achour et al, 2020).…”

Section: The Role Of Ngs In Molecular Diagnosismentioning

confidence: 99%

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

et al. 2021

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During the last few years, next-generation sequencing (NGS) has undergone a rapid transition from a research setting to a clinical application, becoming the method of choice in many clinical genetics laboratories for the detection of disease-causing variants in a variety of genetic diseases involving multiple genes. The hemoglobinopathies are the most frequently found Mendelian inherited monogenic disease worldwide and are composed of a complex group of disorders frequently involving the inheritance of more than one abnormal gene. This review aims to present the role of NGS in both screening and pre- and post-natal diagnostics of the hemoglobinopathies, and the added value of NGS is discussed based on the results described in the literature. Overall, NGS has an added value in large-scale high throughput carrier screening and in the complex cases for which common molecular techniques have some inadequacies. It is proven that the majority of thalassemia cases and Hb variants can be diagnosed using routine analysis involving a combined approach of hematology, hemoglobin separation, and classical DNA methods; however, we conclude that NGS can be a useful addition to the existing methods in the diagnosis of these disorders.

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A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H

Cited by 17 publications

References 20 publications

A novel SUPT5H variant associated with a beta‐thalassaemia trait

A novel SUPT5H variant associated with a beta‐thalassaemia trait

Beta‐thalassemia and the advent of new interventions beyond transfusion and iron chelation

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

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