title: Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].
abstract: We report two new point mutations of the alpha1-globin gene found in a Greek and a Burmese patient, both living in Western Australia. The patients were initially selected for their microcytic hypochromic parameters as belonging to a group suspected for uncommon (deletion) defects. Gap-polymerase chain reaction (gap-PCR) and multiplex ligation-dependent probe amplification (MLPA) technologies were applied, and in those cases not showing deletions, direct sequencing was performed. We have found 1) HBA1:c.86C>T, Hb Nedlands [alpha28(B9)Ala-->Val] which, based on the red cell indices and phenotype prediction scores, is presumed to be clinically silent, and 2) HBA1:c.98T>A, Hb Queens Park [alpha32(B13)Met-->Lys] which seems to be associated with a mild alpha-thalassemia (alpha-thal) phenotype. The phenotype/genotype correlation is briefly described.
authors.affiliation: Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Marion
authors.initials: M
authors.lastname: Phylipsen
authors.forename: John F
authors.initials: JF
authors.lastname: Prior
authors.forename: Erna
authors.initials: E
authors.lastname: Lim
authors.forename: Neela
authors.initials: N
authors.lastname: Lingam
authors.forename: Jill
authors.initials: J
authors.lastname: Finlayson
authors.forename: Sandra G J
authors.initials: SG
authors.lastname: Arkesteijn
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D000747:Anemia, Hypochromic / Q000235:genetics; D001315:Australia; D002851:Chromatography, High Pressure Liquid; D015331:Cohort Studies; D006115:Greece / Q000208:ethnology; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D002052:Myanmar / Q000208:ethnology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014904:Western Australia; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C550544:hemoglobin Nedlands; C550545:hemoglobin Queens Park