Further studies on Hb Canebière [β12(G4)Asn→His], a low affinity hemoglobin variant.
A case of Hb Canebière [β102(G4)Asn→His] was diagnosed in an otherwise healthy 21-year-old Danish woman. The clinical consequences were minor, since her only symptom consisted of transient cyanosis in lips and fingers when exposed to cold environments. Whole blood p50 was 59.9 mmHg. The Hb Canebière variant could not be separated from Hb A by high performance liquid chromatography (HPLC) and isoelectric focusing (IEF), and it was thus missed by routine hemoglobin (Hb) fractionation techniques.
Froelund
Ulf
U
Department of Hematology, Herlev University Hospital, Herlev, Denmark.
Sandbakken
Erik
E
Szecsi
Pal
P
Birgens
Henrik
H
D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007525:Isoelectric Focusing; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C509421:hemoglobin Canebiere