title: Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background.
abstract: We report the second case of Hb Titusville in a family of Northern European background. This variant hemoglobin caused by an alpha-globin gene mutation has decreased oxygen affinity. Correct diagnosis is clinically important to spare affected individuals extensive investigations into other causes of low oxygen saturation in peripheral blood.
authors.affiliation: Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts 02118, USA.
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Luo
authors.forename: Ian
authors.initials: I
authors.lastname: Irving
authors.forename: John
authors.initials: J
authors.lastname: Prior
authors.forename: Erna
authors.initials: E
authors.lastname: Lim
authors.forename: Shawn H
authors.initials: SH
authors.lastname: Eung
authors.forename: Timothy P
authors.initials: TP
authors.lastname: Skelton
authors.forename: Wendy N
authors.initials: WN
authors.lastname: Erber
authors.forename: Martin H
authors.initials: MH
authors.lastname: Steinberg
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D005060:Europe; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010100:Oxygen / Q000097:blood*; D010375:Pedigree
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; D010100:Oxygen