Abstract
A new electrophoretically silent hemoglobin variant is described that produces the classical phenotype of β thalassemic intermedia in association with β° thalassemia trait. This variant has the expression of a silent β thalassemia trait. The abnormal hemoglobin was detected by acid—urea—Triton—acrylamide electrophoresis and further demonstrated by isoelectric focusing. The amount of the variant in carrier is ∼30% of the total hemoglobin. No instability was found. Absence of hemoglobin A in the propositus blood facilitated structural studies. Peptides maps were normal but analysis of individual peptide spots showed an Ala→Ser substitution in the βT3. This variant has been previously called Hb Knossos (β27 (B9) Ala→Ser).
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