Premium
Thalassaemia intermedia: interaction of the triple α‐globin gene arrangement and heterozygous β‐thalassaemia
Author(s) -
Kulozik A. E.,
Thein S. L.,
Wainscoat J. S.,
Gale R.,
Kay L. A.,
Wood J. K.,
Weatherali D. J.,
Huehns E. R.
Publication year - 1987
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.1365-2141.1987.00103.x-i1
Subject(s) - alpha (finance) , gene , basophilic , globin , heterozygote advantage , beta (programming language) , alpha globulin , genetics , ineffective erythropoiesis , biology , microbiology and biotechnology , medicine , erythropoiesis , genotype , anemia , pathology , construct validity , nursing , computer science , patient satisfaction , programming language
Summary. Five patients with heterozygous β‐thalassaemia with an unusually severe clinical picture, low haemoglobin levels occasionally requiring blood transfusion, splenomegaly and unusually prominent basophilic stippling were found to have co‐inherited a triple α‐globin gene arrangement on one chromosome (ααα/αα). It seems probable that the expression of a single extra α‐globin gene is sufficient in some patients with heterozygous β‐thalassaemia to give rise to a clinically significant degree of dyserythropoietic anaemia.