Haemoglobin Bonn in a Chinese family as a cause of spurious hypoxaemia measured by pulse oximetry.
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.
So
Chi-Chiu
CC
Department of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. scc@pathology.hku.hk
Chan
Amy Y
AY
Chow
Eudora Y
EY
Lin
Shek-Ying
SY
Yip
Sze-Fai
SF
Szeto
Siu-Cheung
SC
Chan
Li-Chong
LC
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
D006455:Hemoglobins, Abnormal; C528769:hemoglobin Bonn; D010100:Oxygen