Novel α0-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease
Sign Up to like & getrecommendations! Published in 2020 at "Hemoglobin"
DOI: 10.1080/03630269.2020.1797774
Abstract: Abstract We report the identification of a large deletion of the α-globin gene cluster, which removed both HBA2 and HBA1 and included the region from HBZ to HBQ1 on chromosome 16 (16p13.3). The α0-thalassemia (α0-thal)… read more here.
Keywords: thal deletion; thalassemia; disease; novel thalassemia ... See more keywords
Catalog of 73 novel variants in thalassemia: discoveries and insights
Sign Up to like & getrecommendations! Published in 2025 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddaf171
Abstract: Abstract Thalassemia is a genetic blood disorder caused by disrupted hemoglobin synthesis, posing significant public health challenges. This study aims to expand the identification of novel thalassemia variants in a large cohort from pre-marriage screenings… read more here.
Keywords: novel thalassemia; novel variants; thalassemia; catalog novel ... See more keywords