Abstract
An abnormal hemoglobin (Hb) fraction was observed during a high performance liquidchromatographic (HPLC) Hb A1c control for diabetes mellitus in a 56-year-old north Europeanwoman. Family analyses revealed the abnormal fraction in three of her five siblings and in her son.Elevated Hb and packed cell volume (PCV) values and red blood cell (RBC) counts were present in allcarriers. No histories of anemia, hemolytic or circulatory episodes were reported. The abnormal Hbfraction estimated at 40%, migrated just below Hb F on alkaline electrophoresis and overlapped the HbA2 peak on cation exchange HPLC. Direct sequencing of the β-globin genes revealed a newGAC→TAC transversion in heterozygous form at codon 94 of the β-globin gene. Based on thehematological/biochemical data and the decreased P50 value, we conclude that the new variant is astable Hb associated with a slightly elevated oxygen affinity.
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