Significance of variant annotation for molecular diagnosis of thalassaemia
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Pathology"
DOI: 10.1136/jclinpath-2020-207045
Abstract: Beta thalassaemia is one of the most common heritable haematological disorders worldwide. Although beta thalassaemia has an autosomal recessive mode of inheritance, the clinical presentations can be classified according to different categories of severity aligning… read more here.
Keywords: hbb gene; gene; thalassaemia; beta globin ... See more keywords
Structural Variation within the Beta-Globin Gene Cluster Among HbS Haplotype Groups
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-119824
Abstract: BACKGROUND The severity of sickle cell anemia (SCA) has been associated with five specific haplotypes in the beta globin cluster, identifiable by distinct patterns of restriction fragment length polymorphism (RFLP). These RFLP-defined haplotypes, named according… read more here.
Keywords: variation; beta globin; rflp; gene ... See more keywords
Long Range Sequencing Shows Improved Resolution in the Detection of Beta Globin Cluster Variants
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood-2019-130652
Abstract: Introduction: Globin gene sequencing has long been impeded by repetitive regions, homology and structural variation. Currently, long-read sequencing technology has been limited by high cost and error rate. These challenges can be mitigated by sample… read more here.
Keywords: range; beta globin; long range; range sequencing ... See more keywords