Heterogeneity in ?0 thalassemia from Algeria: Genetic, clinical and molecular studies

Publisher Website
Google Scholar
Abstract
Six Algerian patients with β0 thalassemia are presented, in addition to the two patients already reported (Godet et al., 1977). Family studies indicate that all the patients had homozygous β thalassemia characterized by absence of β globin chain synthesis in peripheral blood. The clinical severity varies from one family to the other and within the same family, from typical Cooley's anemia to thalassemia intermedia and appears to be related to the child death rate observed in each family. The γ/α biosynthetic ratio was 0.36–0.40 in seven patients and 0.2 in the most seriously affected patient. The mRNAβ content in peripheral reticulocytes was less than 1.5% of mRNAα in seven patients and 13.3% in one patient. These results indicate that Algerians homozygous for β thalassemia are heterozygous at the clinical, biochemical and molecular levels.