‘Silent’ β-thalassaemia caused by a ‘silent’ β-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia
- 1 August 1982
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 51 (4) , 577-583
- https://doi.org/10.1111/j.1365-2141.1982.tb02821.x
Abstract
In a Greek family 3 cases of .beta.-thalassemia intermedia were diagnosed as resulting from the interaction of a typical high HbA2-.beta.-thalassemia with an atypical (silent) .beta.-thalassemia 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 thalassemia gene and in the intermediates; it amounted to 33% of the non-.alpha. chains in the former and to .apprx. 75% in the latter. The provisional name Hb Knossos is suggested for this abnormality.This publication has 15 references indexed in Scilit:
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