'Silent' beta-thalassaemia caused by a 'silent' beta-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia.
In a Greek family three cases of beta-thalassaemia intermedia were diagnosed as resulting from the interaction of a typical high HbA2-beta-thalassaemia with an atypical (silent) beta-thalassaemia gene. Following electrophoresis of globins on an acid-urea-Triton-acrylamide system, an otherwise silent beta-like variant was revealed in the carriers of the atypical thalassaemia gene and in the intermediates; it amounted to 33% of the non-alpha chains in the former and to c. 75% in the latter. The provisional name Hb Knossos is suggested for this abnormality.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D014644:Genetic Variation; D006443:Hemoglobin A2; D006455:Hemoglobins, Abnormal; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006443:Hemoglobin A2