β-Thalassemias Defective synthesis of the β-globin chain causes recessively inherited
disorders characterized by inadequate hemoglobin production and chronic anemia. Transfusion …

In 1925, Thomas Cooley and Pearl Lee described a form of severe anemia, occurring in
children of Italian origin and associated with splenomegaly and characteristic bone changes. …

β-thalassemias are heterogeneous hereditary anemias characterized by a reduced output of
β-globin chains. The disease is most frequent in the temperate regions of the world, where …

… The β-thalassemias are genetic disorders of hemoglobin synthesis characterized by
deficient (β + ) or absent (β 0 ) synthesis of the β-globin subunit of hemoglobin molecule (Weatherall …

… The β-thalassemias, including the hemoglobin E disorders, … heterozygotes or carriers of the
β-thalassemias. While the overall … with β-thalassemias and hemoglobin E disorders in Asia. …

In this paper we review the molecular basis of the marked heterogeneity of the thalassemia
syndromes as well as the relative implications for carrier screening and prenatal diagnosis. …

… β-thalassemias are monogenic disorders characterized by defective synthesis of the β-… or
its regulatory elements have been associated with β-thalassemias. Due to the complexity of the …

… β-thalassemias and hemoglobinopaties are among the commonest autosomal recessive
diseases with a high frequency in population of the Mediterranean area, the Middle East, the …

The β‐thalassemias are congenital anemias that are caused by mutations that reduce or
abolish expression of the β‐globin gene. They can be cured by allogeneic hematopoietic stem …

… The data confirm previous suggestions that the cellular pathology underlying this group of
β thalassemias is related to the synthesis of highly unstable β-globin chain variants, which fail …