title: Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia.
abstract: A new electrophoretically silent hemoglobin variant is described that produces the classical phenotype of beta thalassemic intermedia in association with beta thalassemia trait. This variant has the expression of a silent beta 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 approximately 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 leads to Ser substitution in the beta T3. This variant has been previously called Hb Knossos (beta 27 (B9) Ala leads to Ser).
mesh_terms: D000596:Amino Acids / Q000032:analysis; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D013789:Thalassemia / Q000097:blood*
chemical_list: D000596:Amino Acids; D006455:Hemoglobins, Abnormal; C036232:hemoglobin Knossos