title: Hb East Timor [β80(EF4)Asn→His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology.
abstract: Routine hemoglobin (Hb) analyses identified a new β-globin variant in a family from East Timor. The red cell indices were within normal limits for all affected family members. The variant is due to a missense mutation at amino acid codon 80 (AAC>CAC) which results in the substitution of histidine for asparagine.
authors.affiliation: Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia. Jill.Finlayson@health.wa.gov.au
authors.forename: Jill
authors.initials: J
authors.lastname: Finlayson
authors.forename: Reza
authors.initials: R
authors.lastname: Ghassemifar
authors.forename: Paula
authors.initials: P
authors.lastname: Holmes
authors.forename: Dianne
authors.initials: D
authors.lastname: Grey
authors.forename: Lisa
authors.initials: L
authors.lastname: Figliomeni
authors.forename: Christopher
authors.initials: C
authors.lastname: Newbound
authors.forename: Nicole
authors.initials: N
authors.lastname: Pell
authors.forename: Michael
authors.initials: M
authors.lastname: Kersten
authors.forename: Michelle
authors.initials: M
authors.lastname: Jennens
authors.forename: Claire
authors.initials: C
authors.lastname: Macaulay
authors.forename: Laura
authors.initials: L
authors.lastname: Greenwood
authors.forename: John
authors.initials: J
authors.lastname: Beilby
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D020125:Mutation, Missense; D049648:Timor-Leste; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C557562:hemoglobin East Timor