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‘Silent’β‐thalassaemia caused by a ‘silent’β‐chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia
Author(s) -
Fessas Phaedon,
Loukopoulos Dimitris,
LoutradiAnagnostou Aphrodite,
Komis George
Publication year - 1982
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1982.tb02821.x
Subject(s) - beta thalassaemia , beta (programming language) , hemoglobinopathy , genetics , globin , gene , mutation , pathogenesis , mutant , beta thalassemia , biology , microbiology and biotechnology , medicine , thalassemia , hemolytic anemia , computer science , programming language
S ummary . In a Greek family three cases of β‐thalassaemia intermedia were diagnosed as resulting from the interaction of a typical high HbA 2 ‐β‐thalassaemia with an atypical (silent) β‐thalassaemia gene. Following electrophoresis of globins on an acid‐urea‐Triton‐acrylamide system, an otherwise silent β‐like variant was revealed in the carriers of the atypical thalassaemia gene and in the intermediates; it amounted to 33% of the non‐α chains in the former and to c . 75% in the latter. The provisional name Hb Knossos is suggested for this abnormality.