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Dominant β‐thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the β‐globin gene
Author(s) -
Oner R.,
Oner C.,
Wilson J. B.,
Tamagnini G. P.,
Ribeiro L. M. L.,
Huisman T. H. J.
Publication year - 1991
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.1365-2141.1991.tb04538.x
Subject(s) - microcytosis , genetics , biology , proteolysis , reticulocyte , heinz body , microbiology and biotechnology , gene , anemia , medicine , hemoglobin , biochemistry , iron deficiency , messenger rna , enzyme
Summary We have studied a Portuguese family with a dominant β‐thalassaemia trait that was present in one member of each of three generations. It was characterized by a moderate anaemia, microcytosis and hypochromia, anisopoikilocytosis, Heinz body formation in peripheral red cells, splenomegaly, and a blood transfusion requirement during pregnancy. Sequence analyses of amplified DNA detected a deletion of (G) TGGCTGGTGT(G) at codons 134‐137 (ValAlaGlyVal) and the insertion of (G)GCÀ(G) (GlyArg) at the same location. Thus, the resulting β chain has an abnormal structure only at codons 134‐137 and is two residues shorter than the normal 146 residues. This chain could not be detected in circulating red cells and must be degraded rapidly by proteolysis because the Heinz bodies consisted mainly of a chains.