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

Abstract excerpt

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

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