Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001941
Abstract: Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical clinical presentation or targeted genotyping approaches are inconclusive. Here, we describe a… read more here.
Keywords: exome sequencing; diagnosis; triplication; globin cluster ... See more keywords
Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ)0-Thalassemia among Tunisian family
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical Biochemistry"
DOI: 10.1177/00045632221134688
Abstract: Background Deletions in the β-globin cluster are uncommon and cause thalassemia (thal) with hereditary persistence of fetal hemoglobin. They constitute a heterogenous group of disorders characterized by absent or reduced synthesis of adult hemoglobin (Hb… read more here.
Keywords: globin cluster; deletion; tunisian family; thalassemia ... See more keywords
DNA methylation patterns of β-globin cluster in β-thalassemia patients
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Epigenetics"
DOI: 10.1186/s13148-020-00987-2
Abstract: Background Reactivation of fetal hemoglobin (HbF, α 2 γ 2 ) holds a therapeutic target for β-thalassemia and sickle cell disease. Although many HbF regulators have been identified, the methylation patterns in β-globin cluster driving… read more here.
Keywords: methylation; thalassemia patients; globin cluster; patterns globin ... See more keywords