A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H
Ahlem Achour, Tamara T. Koopmann, Rob Castel, Gijs W.E. Santen, Nicolette S. den Hollander, Jeroen Knijnenburg, Claudia Ruivenkamp, Sandra G.J. Arkesteijn, Jeanet ter Huurne, Sharda Bisoen, Maaike Verschuren, Linda Vijfhuizen, Rianne Schaap, Anneliese Grimbergen, Jennichjen Slomp, Joanne Traeger‐Synodinos, Christina Vrettou, Serge Pissard, F. Galactéros, Frank Baas, Cornelis L. Harteveld
Abstract
b-Thalassemia is among the most common autosomal-recessive conditions; it is caused by nucleotide variants and, less commonly, deletions of the b-globin gene (HBB; 11p15.4) or gene cluster, Heterozygotes usually show reduced erythrocyte indices and elevated HbA 2 levels, and
Topics & Concepts
ThalassemiaPhenotypeGeneticsBiologyGeneMedicineComputational biologyGenetics and Neurodevelopmental DisordersHemoglobinopathies and Related DisordersGenomics and Rare Diseases