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

AbstractDominant 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 frameshift mutation caused by a thymidine insertion in codons 139/140. Hematopoietic stem cell transplant provided a successful alternative therapy for this severe form of dominant β‐thalassemia. Pediatr Blood Cancer 2013;60:E131–E134. © 2013 Wiley Periodicals, Inc.

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