title: Haemoglobin Bonn in a Chinese family as a cause of spurious hypoxaemia measured by pulse oximetry.
abstract: Haemoglobin (Hb) Bonn is a newly described benign Hb variant that causes falsely depressed oxygen saturation as measured by pulse oximetry. It was found to be associated with mild haemolysis. Since its first report in a German family, no further cases have been documented in the literature. We report the first Chinese family with this Hb variant and confirm its unusual clinical presentation. No evidence of haemolysis was seen. The absence of consistent abnormalities in routine Hb tests such as high-performance liquid chromatography and gel electrophoresis means that spurious hypoxaemia is the only clue to its presence, and genotypic analysis is the preferred method for definitive diagnosis. Its positive identification is important for counselling and will help to avoid unnecessary investigation and treatment for this benign condition.
authors.affiliation: Department of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. scc@pathology.hku.hk
authors.forename: Chi-Chiu
authors.initials: CC
authors.lastname: So
authors.forename: Amy Y
authors.initials: AY
authors.lastname: Chan
authors.forename: Eudora Y
authors.initials: EY
authors.lastname: Chow
authors.forename: Shek-Ying
authors.initials: SY
authors.lastname: Lin
authors.forename: Sze-Fai
authors.initials: SF
authors.lastname: Yip
authors.forename: Siu-Cheung
authors.initials: SC
authors.lastname: Szeto
authors.forename: Li-Chong
authors.initials: LC
authors.lastname: Chan
mesh_terms: D000368:Aged; D044466:Asian People; D002681:China; D003937:Diagnosis, Differential; D005260:Female; D005838:Genotype; D006453:Hemoglobinopathies / Q000150:complications / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D000860:Hypoxia / Q000175:diagnosis* / Q000209:etiology; D008297:Male; D008875:Middle Aged; D010092:Oximetry; D010100:Oxygen / Q000097:blood; D010641:Phenotype; D055815:Young Adult
chemical_list: D006455:Hemoglobins, Abnormal; C528769:hemoglobin Bonn; D010100:Oxygen