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The Clinical and Haematological Findings in Children Inheriting Two Types of Thalassaemia: High‐A 2 Type β‐Thalassaemia, and High‐F Type or δβ‐Thalassaemia
Author(s) -
Kattamis C.,
MetaxotouMavromati Anna,
Karamboula Katerina,
Nasika Evangelia,
Lehmann H.
Publication year - 1973
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.1365-2141.1973.tb01748.x
Subject(s) - heterozygote advantage , beta thalassaemia , medicine , thalassemia , compound heterozygosity , mutation , red cell , pediatrics , gastroenterology , genetics , biology , gene , genotype
S ummary . Eleven children who are double heterozygotes for β‐ and δβ‐thalassaemia are described. Of their parents one was always heterozygous for β‐(A 2 ) thalassaemia (increased Hb A 2 ), and the other for the high F variant or δβ‐thalassaemia (increased Hb F). The clinical syndrome resulting from the combination of β‐ and δβ‐thalassaemia shows some heterogeneity, but in general is of intermediate severity. Red cell abnormalities were considerable, Hb F was very high (mean 70.3 ± 12.6%), Hb A 2 was low or normal (mean 2.36 ± 1.52%), and Hb A was absent in five patients. Hb F was nearly homogeneously distributed in the red cells of most patients. These findings are explained as the outcome of a mutation which suppresses δ‐ and β ‐chain synthesis which is associated with a genetically determined increased production of γ‐ chains.