title: Hb Phimai [β72(E16)Ser→Thr]: a novel β-globin structural variant found in association with Hb constant spring in pregnancy.
abstract: A Thai pregnant woman with α and β hemoglobinopathies is described. Initial hemoglobin (Hb) analysis revealed an unknown variant with a high performance liquid chromatography (HPLC) elution pattern similar to Hb Hope [β136(H14)Gly→Asp]. Subsequent DNA-based diagnostics revealed that she was a carrier of Hb Constant Spring [Hb CS, α142, TAA>CAA (α2)] and a novel β-globin chain variant [β72(E16)Ser→Thr, AGT>ACT] which we named Hb Phimai. Her hematological findings and a simple DNA test for differential diagnosis of Hb Phimai and Hb Hope are presented.
authors.affiliation: The Graduate School, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Sanita
authors.initials: S
authors.lastname: Singsanan
authors.forename: Hataichanok
authors.initials: H
authors.lastname: Srivorakun
authors.forename: Goonnapa
authors.initials: G
authors.lastname: Fucharoen
authors.forename: Rawiwan
authors.initials: R
authors.lastname: Puangplruk
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence; D003062:Codon; D005260:Female; D023061:Gene Order; D006403:Hematologic Tests; D006441:Hemoglobin A / Q000737:chemistry; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; D006441:Hemoglobin A; C035541:Hemoglobin Constant Spring