title: Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene.
abstract: We report two new abnormal hemoglobins (Hbs) caused by mutations on the α2 gene. One resulted into an Asn→His substitution at position 68, the other in a Leu→Gln substitution at position 125. The first mutation was observed in a 61-year-old North European Belgian male during Hb A(1c) analysis and subsequently in other members of his family. The variant was expressed at a normal level and caused no hematological abnormalities in the carriers. The second was found in a 27-year-old Turkish male living in The Hague, The Netherlands, who presented with microcytic hypochromic parameters without iron deficiency and was also carrier of the common α2 IVS-I (-5 nt) deletion.
authors.affiliation: The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. J.O.Kaufmann@lumc.nl
authors.forename: Judith O
authors.initials: JO
authors.lastname: Kaufmann
authors.forename: Marion
authors.initials: M
authors.lastname: Phylipsen
authors.forename: Catherine
authors.initials: C
authors.lastname: Neven
authors.forename: Wim
authors.initials: W
authors.lastname: Huisman
authors.forename: Peter
authors.initials: P
authors.lastname: van Delft
authors.forename: Margreet
authors.initials: M
authors.lastname: Bakker-Verweij
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; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C556237:hemoglobin St. Truiden; C556238:hemoglobin Westeinde