title: Novel dominant β-thalassemia: Hb Boston-Kuwait [codon 139/140(+T)].
abstract: 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 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.
authors.affiliation: Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA. stacy.croteau@childrens.harvard.edu
authors.forename: Stacy E
authors.initials: SE
authors.lastname: Croteau
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Luo
authors.forename: Leslie E
authors.initials: LE
authors.lastname: Lehmann
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
authors.forename: Ellis J
authors.initials: EJ
authors.lastname: Neufeld
mesh_terms: D002675:Child, Preschool; D003062:Codon; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D018380:Hematopoietic Stem Cell Transplantation; D006449:Hemoglobin M / Q000235:genetics*; D006801:Humans; D014184:Transplantation, Homologous; D017086:beta-Thalassemia / Q000235:genetics* / Q000628:therapy
chemical_list: D003062:Codon; C027541:hemoglobin M Boston; D006449:Hemoglobin M
keywords: chromouria; dipyrrole methylenes; stem cell transplant; unstable hemoglobin