title: A newly identified deletion of 970 bp at the alpha-globin locus that removes the promoter region of the alpha1 gene.
abstract: The most common causes of alpha-thalassemia (thal) are deletions that remove a part, or one or both of the functional alpha-globin genes. These deletions cause diminished expression of the alpha-globin protein, which may result in relatively low hemoglobin (Hb) and/or mean corpuscular volume (MCV) values. We here report the identification of a 970 bp deletion in the alpha1-globin gene that encompasses the entire promoter region of the alpha1-globin gene and 26 bp encoding the 5' end of the mRNA. Thus, the affected alpha1-globin gene is prone to be nonfunctional. We therefore nominated the newly identified deletion allele alpha-alphaDelta970. The MCV values of four related carriers of the alpha-alphaDelta970 allele were slightly lowered, consistent with the presence of three functional alpha-globin genes.
authors.affiliation: Multidisciplinary Laboratory for Molecular Diagnostics, Jeroen Bosch Hospital, s-Hertogenbosch, The Netherlands.
authors.forename: Jeroen
authors.initials: J
authors.lastname: Poodt
authors.forename: Henk A M
authors.initials: HA
authors.lastname: Martens
authors.forename: Ita B B
authors.initials: IB
authors.lastname: Walsh
authors.forename: Bente
authors.initials: B
authors.lastname: Felix-Schollaart
authors.forename: Mirjam H A
authors.initials: MH
authors.lastname: Hermans
mesh_terms: D000328:Adult; D005260:Female; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009426:Netherlands; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins