RARE BETA-CHAIN HEMOGLOBIN-VARIANTS FOUND IN SWEDISH PATIENTS DURING HBA(1C) ANALYSIS

Here we report the occurrence of five different beta chain hemoglobin variants not previously described in Sweden. The variants were found d uring quantification of HbA1c using ion exchange high performance liqu id chromatography (HPLC) or isoelectrofocusing. Samples were examined either at protein level by separation of globin chains on C-8 reversed phase HPLC, digestion with trypsin or lysylendopeptidase and separati on of peptides by C18 reversed phase HPLC, or at DNA level by direct n ucleotide sequencing of double-stranded DNA fragments amplified from e xon 1+2 of the beta-globin gene. The variants were: Hb Raleigh beta1( NA1)Val-->Ac-Ala!, Hb J-Baltimore beta16(A13)Gly-->Asp!, Hb Tacoma b eta30(B12)Arg-->Ser!, Hb K-Ibadan beta46(CD5)Gly-->Glu!, and Hb Fukuy ama beta77(EF1)His-->Tyr!. Hb Tacoma, Hb K-Ibadan, and Hb Fukuyama we re slightly unstable in the isopropanol test, but no signs of hemolysi s were found in the patients who all had normal hematological findings .