RESUMEN
A 36-year-old pregnant woman with gestational diabetes mellitus and anemia was found to have an abnormal Hb (comprising 18.7%) in the automated midget low pressure cation- exchange chromatography (DiaSTATTM, Bio-Rad, USA) for Hb A1c assay. The abnormal Hb revealed an abnormal peak emerged slightly later than normal Hb A1 in DiaSTATTM chromatogram, subsequently confirmed by cellulose acetate membrane electrophoresis and isoelectric focusing. This hemoglobinopathy with high isoelectric point was noted and abnormal chain globin was prepared by chromatography. Family study was carried out and this chain variant was also found in four other family members, and all of them had no clinical abnormalities, except well controlled diabetes. As the results from peptide mapping, amino acid analysis and sequencing, abnormal Hb of the patient was finally identified as Hb Queens[ 34 (B15)Leu-->Arg] without clinical abnormalities.
Asunto(s)
Adulto , Femenino , Humanos , Embarazo , Anemia , Celulosa , Cromatografía , Diabetes Gestacional , Electroforesis , Globinas , Hemoglobina Glucada , Hemoglobinopatías , Focalización Isoeléctrica , Punto Isoeléctrico , Membranas , Mapeo Peptídico , Mujeres EmbarazadasRESUMEN
We report a Korean family case of beta-thalassemia minor and Hb Queens. This is the first case report of Hb Queens in Korea. A 43-year-old male and his four family members had beta-thalassemia minor which is very rare in Korea. Incidentally, an alpha chain variant with a high isoelectric point was also found in two other family members without clinical problems and was finally identified as alpha 34 (B15) Leu-Arg or Hemoglobin Queens.