Novel dominant β‐thalassemia: Hb Boston‐Kuwait [Codon 139/140(+T)]

Dominant β-thalassemias exhibit a hybrid phenotype of unstable hemoglobin and ineffective erythropoiesis. Most arise from heterozygous β-globin gene mutations in exons 3 or 2 and present in adulthood as thalassemia intermedia. We report a novel, de novo β-globin mutation presenting in a toddler with features of thalassemia major and chromaturia. Hemoglobin Boston-Kuwait is an elongated β-chain variant (163 amino acids) that results from a …