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A Comparison of the Homozygous States for G γ and G γ A γδβ Thalassaemia
Author(s) -
Amin A. B.,
Pandya N. L.,
Diwin P. P.,
Darbre P. D.,
Kattamis C.,
MetaxatouMavromati A.,
White J. M.,
Wood W. G.,
Clegg J. B.,
Weatherall D. J.
Publication year - 1979
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.1365-2141.1979.tb03786.x
Subject(s) - beta (programming language) , hemoglobinopathy , delta , beta thalassaemia , microbiology and biotechnology , physics , genetics , thalassemia , medicine , biology , hemolytic anemia , astronomy , computer science , programming language
Summary. One Arabic and two Indian patients with thalassaemia intermedia produce only Hb F of the G γ type. Haemoglobin synthesis studies and genetic analysis indicate that they are homozygous for G γδβ thalassaemia. The findings in these patients and their heterozygous relatives are compared with those in an individual homozygous for G γ A γδβ thalassaemia. From this analysis, and from previously reported data on G γ A γδβ thalassaemia, the phenotypic expression of the two varieties of δβ thalassaemia is defined. The relationship between the clinical expression and molecular pathology of these forms of δβ thalassaemia is discussed.