title: Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.
abstract: The most common causes of alpha-thalassemia are deletions that remove one or both of the functional alpha-globin genes. In addition, more than 30 different point mutations and small deletions/insertions have been reported for the alpha-globin genes. Here, we describe two new mutations occurring in exon 2 of the alpha1-globin gene. One mutation is an insertion of 21 bp that gives rise to a predicted alpha-globin chain containing a duplication of amino acid residues 93-99. The second mutation is a 33 bp deletion resulting in a predicted alpha-globin chain that is missing amino acid residues 64-74. Neither mutation results in a detectable hemoglobin variant, indicating that the variant alpha-globin chains are highly unstable. Carriers of these mutations have mild microcytosis and the phenotype of alpha+-thalassemia trait.
authors.affiliation: Provincial Hemoglobinopathy and DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Ontario, Canada. wayej@mcmail.mcmaster.ca
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: M
authors.initials: M
authors.lastname: Patterson
authors.forename: M D
authors.initials: MD
authors.lastname: Carcao
authors.forename: L
authors.initials: L
authors.lastname: Chang
authors.forename: N F
authors.initials: NF
authors.lastname: Olivieri
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
mesh_terms: D001483:Base Sequence; D002648:Child; D004913:Erythrocytes, Abnormal; D005091:Exons; D005192:Family Health; D005260:Female; D018740:Genetic Heterogeneity; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins