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Characterization of an Indian (δβ)° thalassaemia
Author(s) -
Wainscoat J. S.,
Old J. M.,
Wood W. G.,
Trent R. J.,
Weatherall D. J.
Publication year - 1984
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.1365-2141.1984.tb06094.x
Subject(s) - medicine , thalassemia
Summary The molecular basis of δβ thalassaemia in an Indian family is shown here to be due to a previously undescribed deletion within the β globin gene complex. Starting 3 kilobases from the 3’ end of the A γ gene, the deletion removes the δ and β globin genes and continues to an unknown extent in the 3’ direction. Heterozygotes for this deletion have about 25% Hb F with a G γ: A γ ratio of 70:30 while interaction with β + thalassaemia results in the clinical picture of thalassaemia intermedia.